As part of its activities, Paris Brain Institute provides a transparency portal for people who have participated in or participated in the research listed on this page. You may, on this portal, be informed about the use of personal data and biological samples collected in the course of studies in which you have participated or are participating, be informed about the results of studies we are conducting and in which we are participating and you may, if you wish, oppose the re-use of your personal data and/or biological samples for further research purposes.
Presentation
The existence of health databases or collections of biological samples now opens up new possibilities and the possibility of enhancing the quality of research results. National or international collaboration between teams of physicians and researchers is essential for scientific research. It allows for the exchange of ideas and saves time and efficiency. The results thus shared are more representative, therefore more robust and lead to faster progress in the acquisition of knowledge for the benefit of the health of all. This is particularly true for rare diseases that require a sufficient number of patients.
For this reason, it is necessary to encourage the reuse of data and biological samples already collected in the framework of research projects or databases set up for this purpose, in order to carry out projects of scientific interest and with the necessary supervision and information of the persons concerned.
Some research can be conducted by our research teams. There are other situations in which other researchers have specific expertise or in which we wish to participate in a collective effort to advance health knowledge. We can then carry out research in partnership with other researchers or transfer the data and biological samples needed for their own projects, while respecting the confidentiality of these data.
Each new research project conducted at Paris Brain Institute or by another organization will be conducted in accordance with the commitment made by the responsible organization to comply with a reference methodology developed by the CNIL to guide the research. Failing this, it will be the subject of an application for authorisation from the Commission.
Whatever the research project and in order to preserve their confidentiality, your data and/or biological samples will be entrusted to our public or private partners without your identity, but with a confidential code of which only the investigator centre holds the key of correspondence. Furthermore, only information strictly necessary to answer the scientific questions raised will be transmitted.
In the event of data transmission, we first draw up a contract in order to guarantee security, respect for the conditions of use of the data and respect for your rights. If the partner is located outside the European Union, the transfer of your coded personal data will be subject to appropriate and adapted safeguards to guarantee the security of your data.
You will be informed of the re-use of biological data and/or samples on this site, which will be updated with each research project. This page will detail all the information relating to the processing of your data within the framework of these new projects, in particular, for each project concerned, the identity of the controller and the purposes pursued justifying the re-use of your data which will necessarily be related to the initial study in which you participated. This will help you understand the context and issues of the research conducted on this data.
With this information, you can choose to exercise your rights in each subsequent search. The posting of projects on the website is considered as information for this re-use of data and therefore there are no plans to send you an individual letter of further information for each research project.
If you do not agree to the use of your data or biological samples for future research, please write to opposition.recherche@icm-institute.org. As soon as your request for objection is taken into account, we guarantee that your data and/or biological samples will never be made available and will therefore never be used for other scientific research projects.
You may also object to the re-use of your data and/or biological samples for a given scientific research project(s) by contacting the contact point mentioned in the description of each project. Your data and/or biological samples will not be used for the project(s) concerned but may be used for those for which you have not expressed opposition.
When your data is used, you can assert your rights:
- You can access your data and in case of error you can ask to correct your data. If it is medical information, it is best to go through your health care professional who alone can judge the accuracy of the information.
- You may ask to limit the use of your data, which temporarily prevents its use for projects, for example, while it is being rectified.
- You can have these data erased. However, you should be aware that useful data collected prior to the exercise of your right to erasure, your right to object or the withdrawal of your research consent may continue to be treated as confidential if their erasure would compromise the achievement of the research objectives.
These rights apply to the body responsible for processing such data at the contact address provided on each information sheet of the research project or database concerned. Your identity will be verified to protect you from spoofing.
In case of difficulty in exercising your rights, you can contact Paris Brain Institute Data Protection Officer by e-mail (dpo@icm-institute.org) or by post (DPO, Institut du Cerveau - Paris Brain Institute - Hôpital de la Pitié-Salpêtrière - 47, boulevard de l’Hôpital - 75013 Paris).
You also have the right to lodge a complaint with the Commission nationale de l’informatique et des libertés (cnil.fr).
Tetris studies (Pr. Alamowitch, Dr. Gerschenfeld)
« Registre Tenecteplase treatment in ischemic stroke (TETRIS) »
Promoteur/responsable de traitement : Assistance Publique - Hôpitaux de Paris
Ce registre a obtenu l’avis favorable du Comité d’Éthique de la Recherche de Sorbonne Université le 8 janvier 2022 (CER-2021-1053).
L e registre TETRIS (rétrospectif et prospectif) rassemble les données cliniques et radiologiques de tous les patients ayant eu une thrombolyse intraveineuse avec de la Ténectéplase en phase aiguë d’un infarctus cérébral de plusieurs Unités Neurovasculaires françaises (CH André Mignot, CH Sud Francilien, CHU Bicêtre, CHU de Bordeaux, CHU Pitié-Salpêtrière, Fondation Rothschild, GHU Paris Psychiatrie Neurosciences).
Les recherches basées sur ce registre visent à mieux caractériser l’action de la Ténectéplase en phase aiguë d’un infarctus cérébral dans des populations bien caractérisées sur les plans cliniques et radiologiques. Ces recherches participent à l’amélioration des pratiques médicales en phase aiguë des infarctus cérébraux.
Contact : opposition.recherche.tetris.psl@aphp.fr
- Devenir fonctionnel, taux de recanalisation et de remaniements hémorragiques chez les patients traités par ténectéplase avant la réalisation d’une thrombectomie pour un infarctus cérébral aigu avec une occlusion proximale d’une artère cérébrale
Nature du projet : étude de registre
Pathologie : infarctus cérébral aigu avec occlusion proximale d’une artère cérébrale
Objectif : évaluer l’efficacité et la sécurité de la thrombolyse par la Ténectéplase avant la thrombectomie mécanique en soins courants
Contact : Dr Gaspard Gerschenfeld, urgences Cérébro-Vasculaires, APHP, Hôpitaux Pitié-Salpêtrière et Saint-Antoine, Paris
Référence : Gerschenfeld G, Smadja D, Turc G, et al. Functional Outcome, Recanalization, and Hemorrhage Rates After Large Vessel Occlusion Stroke Treated With Tenecteplase Before Thrombectomy. Neurology. 2021;97(22):e2173-e2184. doi:10.1212/wnl.0000000000012915
- Délais de traitement, devenir fonctionnel et taux de remaniements hémorragiques après le switch de l’altéplase pour la ténectéplase
Nature du projet : étude de registre avant-après
Pathologie : infarctus cérébral aigu éligible à un traitement thrombolytique
Objectif : rechercher un impact du switch de l’Altéplase vers la Ténectéplase sur les délais de traitements des patients pris en charge pour un infarctus cérébral aigu
Contact : Dr Gaspard Gerschenfeld, urgences Cérébro-Vasculaires, APHP, Hôpitaux Pitié-Salpêtrière et Saint-Antoine, Paris
Référence : Gerschenfeld G, Liegey J-S, Laborne F-X, et al. Treatment times, functional outcome, and hemorrhage rates after switching to tenecteplase for stroke thrombolysis: Insights from the TETRIS registry. European Stroke Journal. July 2022. doi:10.1177/23969873221113729
- Comparaison de la ténectéplase et de l’altéplase dans le traitement combiné des infarctus cérébraux dus à une occlusion en tandem
Nature du projet : analyse comparative de deux cohortes (TETRIS et ETIS)
Pathologie : infarctus cérébral aigu avec une occlusion tandem éligible au traitement combiné
Objectif : comparer l’efficacité et la sécurité de la ténectéplase et l’altéplase dans les occlusions en tandem en soins courant
Contact : Dr Gaultier Marnat
Service de Neuroradiologie Interventionnelle et Diagnostique, Hôpital Pellegrin, Bordeaux
- Évaluation de l'incidence et recherche de facteurs prédictifs de survenue de remaniement hémorragique intracrânien sévère après thrombolyse intraveineuse par ténectéplase
Nature du projet : étude de registre
Pathologie : infarctus cérébral aigu éligible à un traitement thrombolytique
Objectif : préciser le taux de survenue de remaniement hémorragique sévère et identifier les facteurs prédictifs
Contact : Dr Gaultier Marnat, service de Neuroradiologie Interventionnelle et Diagnostique, Hôpital Pellegrin, Bordeaux
- Anti-agrégation plaquettaire et surrisque de transformation hémorragique des infarctus cérébraux après thrombolyse intraveineuse par ténectéplase ou altéplase
Nature du projet : analyse comparative de deux cohortes
Pathologie : infarctus cérébral aigu éligible à un traitement thrombolytique
Objectif : comparer le surrisque de transformation hémorragique associé au traitement anti-agrégant plaquettaire chez les patients thrombolysés par ténectéplase ou altéplase ainsi que son impact sur le pronostique neurologique
Contact : Dr Jean-Sébastien Liegey, service de Neurologie, Hôpital Pellegrin, Bordeaux
- Comparaison de l’incidence et des facteurs prédictifs de recanalisation précoce après thrombolyse intraveineuse par ténectéplase ou altéplase dans le traitement combiné des infarctus cérébraux
Nature du projet : analyse comparative de deux cohortes (TETRIS et PREDICT-RECANAL)
Pathologie : infarctus cérébral aigu avec occlusion proximale d’une artère cérébrale
Objectif : comparer les facteurs influençant la recanalisation précoce (avant la thrombectomie) après une thrombolyse par altéplase ou ténectéplase chez des patients présentant un infarctus cérébral aigu avec une occlusion proximale d’une artère cérébrale
Contact : Dr Thomas Checkouri, urgences Cérébro-Vasculaires, APHP, Hôpitaux Pitié-Salpêtrière et Saint-Antoine, Paris
- Comparaison de la ténectéplase et de l’altéplase dans le traitement combiné des infarctus cérébraux de grande taille
Nature du projet : analyse comparative de deux cohortes (TETRIS et ETIS)
Pathologie : infarctus cérébral aigu avec occlusion proximale d’une artère cérébrale et un score CT- ou DWI-ASPECTS ≤ 5
Objectif : comparer l’efficacité (devenir neurologique à 3 mois) et la sécurité (transformation hémorragique intracrânienne) de la ténectéplase et l’altéplase dans le traitement combiné des infarctus cérébraux de grande taille
Contact : Dr Gaspard Gerschenfeld, urgences Cérébro-Vasculaires, APHP, Hôpitaux Pitié-Salpêtrière et Saint-Antoine, Paris
- Comparaison du devenir neurologique à 3 mois des patients thrombolysés avec la ténectéplase ou l’altéplase pour un infarctus cérébral aigu
Nature du projet : analyse comparative de deux cohortes (TETRIS et TRISP/EVATRISP)
Pathologie : infarctus cérébral aigu éligible à une thrombolyse intraveineuse
Objectif : déterminer si le devenir neurologique des patients traités par la ténectéplase est similaire à celui de ceux traités par altéplase pour un infarctus cérébral aigu
Contact : Dr Guillaume Turc, service de Neurologie, GHU Paris Psychiatrie et Neurosciences, Paris
- Comparaison de la ténectéplase et l’altéplase dans le traitement des infarctus cérébraux d’horaire inconnu
Nature du projet : analyse comparative de deux cohortes (TETRIS et TRISP/EVATRISP)
Pathologie : infarctus cérébral aigu éligible à une thrombolyse intraveineuse avec un horaire de début inconnu
Objectif : déterminer si le devenir neurologique des patients avec un infarctus cérébral aigu d’horaire inconnu traités par la ténectéplase est similaire à celui de ceux traités par altéplase
Contact : Dr Guillaume Turc, service de Neurologie, GHU Paris Psychiatrie et Neurosciences, Paris
- Comparaison de la ténectéplase et l’altéplase dans le traitement des infarctus cérébraux avec une occlusion de l’artère basilaire
Nature du projet : analyse comparative de deux cohortes (TETRIS et ETIS)
Pathologie : infarctus cérébral aigu avec une occlusion de l’artère basilaire et éligible à une thrombolyse intraveineuse
Objectif : déterminer si le devenir neurologique des patients traités par la ténectéplase est similaire à celui de ceux traités par altéplase avant la thrombectomie mécanique pour un infarctus cérébral avec une occlusion de l’artère basilaire
Contact : Dr Jildaz Caroff, service de Neuroradiologie Interventionnelle, APHP, Hôpital Bicêtre, Kremlin-Bicêtre
- Comparison of Tenecteplase and Alteplase in the Treatment of Minor Cerebral Infarction with Proximal occlusion of a Cerebral Artery
Nature of the project: comparative analysis of two cohorts (TETRIS and MINOR-STROKE)
Pathology: acute cerebral infarction eligible for intravenous thrombolysis with NIHSS score ≤ 5 and proximal occlusion of a cerebral artery, with or without mechanical decor thrombectomy
Objective: to compare the clinical (risk of early neurological deterioration, functional prognosis at 3 months) and radiological (early arterial recanalization, symptomatic hemorrhagic transformation) efficacy of intravenous thrombolysis by tetraplase or alteplase in patients with minor cerebral infarction and proximal occlusion of a cerebral artery
Contact: Dr. Pierre Seners, Department of Neurology, Rothschild Foundation Hospital, Paris
- Comparison of Tenecteplase and Alteplase in the Treatment of Cerebral Infarction with Proximal occlusion of the Anterior and Posterior Cerebral Arteries
Nature of the project: Comparative analysis of two cohorts (TETRIS and ACAPULCO)
Pathology: Acute cerebral infarction eligible for intravenous thrombolysis with proximal occlusion of an anterior or posterior cerebral artery, with or without mechanical thrombectomy to the decors
Objective: to compare the clinical (clinical improvement at 24 hours, functional prognosis at 3 months) and radiological (early arterial recanalization, symptomatic hemorrhagic transformation) efficacy of intravenous thrombolysis by tenecteplase or alteplase in patients with proximal occlusion of anterior or posterior cerebral artery
Contact: Dr. Pierre Seners, Department of Neurology, Rothschild Foundation Hospital, Paris
- Interaction between the therapeutic effect of tenecteplase and the etiology of cerebral infarction
Nature of the project: registry study
Pathology: acute cerebral infarction eligible for intravenous thrombolysis
Objective: to investigate an interaction between the therapeutic effect of tenecteplase and etiologic classification, comparing the functional status of patients at 3 months according to etiologic subtype
Contact: Dr. Emmanuel Wiener, Department of Neurology, Hospital Centre of Versailles, Le Chesnay-Rocquencourt
SPATAX studies (Pr. Alexandra Durr)
“Spinocyte degeneration: clinical genetics and therapeutic approaches”
Sponsor or Initial Investigator
Until 7 June 2024: Inserm, 101, rue de Tolbiac, 75013 Paris
Since 7 June 2024: Fondation Institut du Cerveau, Hôpital Pitié-Salpêtrière, 47 bd de l’Hôpital, 75013 Paris
Project Objective: The goal of this project is to improve knowledge of hereditary hyperkinetic movement disorders.
Status/ Project Status: Transfer of resources from the SPATAX study (closed on 17 May 2022) to 2024 for use in other projects carried out by or in partnership with the Brain Institute.
The data and biological samples collected within the framework of the SPATAX study constitute a valuable resource for the scientific community to identify the genetic factors involved in spinocerebral degeneration, to develop molecular diagnostics, to study the mechanisms of these diseases and subsequently to propose new treatments. The goal is to prevent transmission of the disease and to develop ways to diagnose and treat this rare disease. To this end, the following national and international collaborations were established and the ICM Foundation obtained the transfer of the data and biological samples from the Spatax research in 2024.
Research population: patients with spinocerebral diseases and, possibly, unaffected members of their immediate family.
Data categories: biological samples (blood and skin samples) and associated clinical data (not directly identifying): health data; genetic data; family history of the disease; vital status.
Data source: Resources collected directly from individuals within the framework of SPATAX Research.
Data recipients: Researchers from the Brain Institute and the SPATAX network or in partnership with third parties through scientific collaborations and compliance with regulations.
Legal basis: Implementation of a mission of public interest entrusted to the ICM Foundation
Transfer of data outside the European Union: Not within the scope of the Spatax data and sample retention activity.
If transfers were to be considered as part of future scientific collaborations, specific information would be made available on this site, including the safeguards put in place.
Retention period: 20 years from the date of transfer
Rights of data subjects: Contact Pr. Alexandra Durr (contact.rechercheclinique@icm-institute.org)
- SCAmod: search for genetic modifiers of autosomal dominant cerebellar ataxia SCA1, SCA2, SCA3
Date of posting: 04/2022
Treatment Manager: Dr. Henri Houlden, UCL London
Scientific Officer: Prof. Alexandra Durr
Key words: autosomal dominant cerebellar ataxia SCA1, SCA2, SCA3, GWAS
Objective: Project using genome-wide genotyping (analysis of genetic variation) to carry out studies of association between phenotype (severity of disease) and genetic markers in order to identify genetic modifiers and direct towards therapeutic pathways.
Project status/status: Genotyping in progress
Categories of data: Genetic and clinical data
Data recipients: Project sponsors and specially trained staff specifically trained under their responsibility for the exclusive needs of the project (methodologists, statisticians). Clinician partners of the project to enter their data directly into the UCL database in London (United Kingdom)
Legal basis: Performance of a task of public interest entrusted to the controller
Retention period: Up to 5 years after publication of the results of the main analysis.
Contacts : contact.rechercheclinique@icm-institute.org
- SCA non-polyQ: spinocerebral Ataxia not caused by pathological expansions of CAG triplets
Date of posting: 07/2020
Treatment Manager: Brain Institute
Scientific Officer: Dr. Giulia Coarelli
Keywords: spinocerebral Ataxia not caused by pathological expansions of CAG triplets
Objective: International collaboration to collect, through a common database, the clinical, genetic and all complementary medical data necessary to understand these rare ataxia.
Project status/status: Analysis in progress
Categories of data: Clinical and genetic data
Data recipients: Project sponsors and specially trained staff specifically trained under their responsibility for the exclusive needs of the project (methodologists, statisticians). Clinician partners of the project to enter their data directly into the database.
Legal basis: Performance of a task of public interest entrusted to the controller
Retention period: Up to 10 years after publication of the results of the main analysis.
Contacts : contact.rechercheclinique@icm-institute.org
Articles publiés : Cunha P, Petit E, Coutelier M, Coarelli G, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A*. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. Am J Hum Genet. 2023 Jun 6:S0002-9297(23)00166-0. doi: 10.1016/j.ajhg.2023.05.009.
- NATHIS SPG11/15 - NATurelle HIStoire from patients with spastic paraparesias SPG11 and SPG15
Date of posting: 13/01/2020
Treatment Manager: Paris Brain Institute
Scientist: Dr. Pauline Lallemant
Nature of the project: Pseudonymized database – Natural History
Key words: spastics SPG11 and SPG15
Objectives: Establishment of an international patient registry SPG11 and SPG15 to: 1. Measure prevalence (estimate the number of cases of these diseases in the population); 2. Characterizing the disease: symptoms and course; 3. Evaluate the quality and effectiveness of patient care; 4. Potentially improve the treatments currently offered and thus devise new therapeutic strategies.
Project Status/Status: In progress
Categories of data: Clinical data, Genetic data
Data recipients: Project sponsors and specially trained staff specifically trained under their responsibility for the exclusive needs of the project (methodologists, statisticians). Clinician partners of the project to enter their data directly into the database.
Legal basis: Performance of a task of public interest entrusted to the controller
Retention period: Up to 5 years after publication of the results of the main analysis.
Contacts : contact.rechercheclinique@icm-institute.org
- Analysis of the phenotypic, biological and functional consequences of mutations in the single heterozygous SPG7 gene
Date of posting: 15/12/2020
Processing manager: CHU Montpellier
Scientific officer: Dr Cécilia MARELLI for the CHU (Principal Investigator) and Dr Jean Charles LIEVENS for the MMDN (Scientific Officer)
Key words: SPG7; dominant; human; mitochondria
Objective: The objective of the project will be to study whether the presence of a single mutated copy of SPG7 represents a risk factor for the development of neurological symptoms. The secondary objectives of the project will be to better understand the functions of the paraplegin protein and the mechanisms of disease development.
Project status/status: under analysis
Categories of data: skin and blood samples and associated clinical data
Data recipients: Project sponsors and specially trained staff specifically trained under their responsibility for the exclusive needs of the project (methodologists, statisticians). Clinician partners of the project to enter their data directly into the database.
Legal basis: performance of a task in the public interest entrusted to the controller
Retention period: until 15/01/2024
Contact : contact.rechercheclinique@icm-institute.org
- Intrep-AF- Characterization and study of the role of GAA interruptions in the severity of Friedreich ataxia
Date of posting: 12/2020
Processing manager: CHU Montpellier
Scientific Officer: Dr. Cécilia Marelli and Prof. Michel Koenig
Key words: Friedreich ataxia
Objective: to study the correlation between the presence and type of interruption at the gene involved in Friedrich’s ataxia (location within the expansion, nucleotide sequence, etc.) and the age of onset of Friedreich’s ataxia.
Project status/status: under analysis
Categories of data: clinical data, blood samples
Data recipients: Project sponsors and specially trained staff specifically trained under their responsibility for the exclusive needs of the project (methodologists, statisticians). Clinician partners of the project to enter their data directly into the database.
Legal basis: performance of a task in the public interest entrusted to the controller
Retention period: until 15/01/2024
Contact : contact.rechercheclinique@icm-institute.org
- FAPP (FAUR) - Contribution of Quantitative Proteomics to Biomarker Discovery
Date of posting: 07/2018
Processing manager: Jacques Monod Institute in Paris (Valérie Serre)
Senior Scientist: Prof. Alexandra Durr
Key words: Friedreich ataxia
Objective: Identification of specific markers for diagnosis, follow-up of patients, and introduction of new therapeutic strategies
Status/Progress of the Project: ongoing analyses
Categories of data: clinical data, genetic data
Data recipients: Project sponsors and specially trained staff specifically trained under their responsibility for the exclusive needs of the project (methodologists, statisticians). Clinician partners of the project to enter their data directly into the database.
Legal basis: Performance of a task of public interest entrusted to the controller
Retention period: Up to 5 years after publication of the results of the main analysis.
Contact : contact.rechercheclinique@icm-institute.org
- MSAcAB (Multiple System Atrophy – Cerebellar – AntiBody): anti-neuronal antibody testing
Date of posting: 11/2018
Processing manager: CHU, Lyon
Head of Science: Prof. Jerome Honnorat
Key words: cerebellar multisystem-mediated Atrophy
Objective: anti-neural antibody testing, with a focus on the anti-Iglon5 antibody
Status/Progress From Project: completed on 11/2019
Categories of data: clinical data, genetic data
Data recipients: project promoters and staff specifically authorized and trained under their responsibility for the exclusive needs of the project (methodologists, statisticians). Clinician partners of the project to enter their data directly into the database.
Legal basis: performance of a task in the public interest entrusted to the controller
Retention period: up to 5 years after publication of the results of the main analysis.
Contact : contact.rechercheclinique@icm-institute.org
- PREPARE: Preparation of therapies for autosomal recessive ataxia
Date of posting: 05/2016
Treatment Manager: Dr. Matthis Synofzig
Scientific Officer: Dr. Matthis Synofzig
Key words: Charlevoix-Saguenay autosomal recessive spastic Ataxia (ARSACS) and autosomal recessive ubiquinone deficit cerebellar Ataxia (ADCK3)
Objective: identification of specific biomarkers to be used in future therapeutic trials
Project status/status: under analysis
Categories of data: blood samples and associated clinical data
Data recipients: project promoters and staff specifically authorized and trained under their responsibility for the exclusive needs of the project (methodologists, statisticians). Clinician partners of the project to enter their data directly into the database.
Legal basis: performance of a task in the public interest entrusted to the controller
Retention period: up to 5 years after final publication
Contact : contact.rechercheclinique@icm-institute.org
- Solve-RD: Solving the Unresolved Problems of Rare Diseases
Date of posting: 01/2018
Processing manager: University of Tubingen, Germany (Olaf Riess and Holm Graessner)
Scientific Officer: Prof. Alexandra Durr
Objective: to solve unresolved diseases by looking “beyond the exome” using multiomic approaches.
Project status/status: ongoing
Categories of data: genetic and clinical
Data recipients: Project sponsors and specially trained staff specifically trained under their responsibility for the exclusive needs of the project (methodologists, statisticians). Clinician partners of the project to enter their data directly into the database.
Legal basis: performance of a task in the public interest entrusted to the controller
Retention period: not specified
Contact : contact.rechercheclinique@icm-institute.org
- LongSCAPS: Long Read Sequennium for the Study of Repetitions and Structural Variants in Spinocerebeller Densities
Date of posting: 12/2021
Treatment Manager: Paris Brain Institute
Scientific Officer: Prof. Alexandra Durr
Nature of project: genomic sequencing
Key words: spinocerebral degeneration (cerebellar ataxia and hereditary spastic paraplegia)
Objective: project using last generation complete genomic sequencing “long readings” to identify unresolved causes of spinocerebral degeneration.
Project status/status: ongoing
Categories of data: genetic data
Data addressees: project promoter and staff specifically empowered and trained under his responsibility, for the exclusive needs of the project (methodologists, statisticians) of the National Research Centre for Human Genomics (CNRGH) in Évry (France).
Legal basis: performance of a task in the public interest entrusted to the controller
Retention period:
Studies BIOMOV (Pr. Alexandra Durr)
Biomarker Research in Hereditary Movement Disorders
Initial researcher/promoter: AP-HP, DRCI, 1 avenue Claude Vellefaux, 75010 Paris
Objectives: Biomov is a continuation of the SPATAX and NGC projects, Like previous studies, it aims to establish a network of specialists in several disciplines in collaboration with national or international teams to:
- Determine the clinical spectrum and natural history of these diseases,
- Understanding the role of genetic and environmental factors in causing differences in physical expression of disease (phenotype),
- To elucidate the molecular basis of these disorders and evaluate diagnostic strategies using molecular analysis methods to improve clinical and genetic management,
- Develop multi-modal biomarkers both for studies of these diseases and for accurate measurement of disease progression,
- Develop cohorts of well-characterized genetic patients, ready for clinical trials,
- To test new therapies, either symptomatic (suggest management of symptoms) or based on pathophysiologic mechanisms.
Status/ Progress of project: ongoing
Research population: persons who carry a mutation that causes hereditary movement disorders and their relatives.
Categories of data: biological samples (blood and skin samples) and associated clinical data (not directly identifying): health data; genetic data; family history of the disease; vital status.
Sources of data: resources collected directly from individuals as part of the BIOMOV Research
Data recipients: researchers from the Brain Institute and the BIOMOV network or in partnership with third parties through scientific collaborations and compliance with regulations.
Legal basis: performance of a mission of public interest entrusted to the APHP
Transfer of data outside the European Union: not part of the Biomov Sample and Data Retention Activity.
If transfers were to be considered as part of future scientific collaborations, specific information would be made available on this site, including the safeguards put in place.
Retention period: up to two years after the last publication of the research results.
Rights of data subjects: contact Pr. Alexandra Durr (contact.rechercheclinique@icm-institute.org)
- SCAmod: search for genetic modifiers of autosomal dominant cerebellar ataxia SCA1, SCA2, SCA3
Date of posting: 04/2022
Treatment Manager: UCL London (Dr. Henri Houlden)
Scientific Officer: Prof. Alexandra Durr
Key words: autosomal dominant cerebellar ataxia SCA1, SCA2, SCA3, GWAS
Objective: a project using genome-wide genotyping (analysis of genetic variation) to carry out studies of the association between phenotype (severity of disease) and genetic markers in order to identify genetic modifiers and direct towards therapeutic pathways.
Project status/status: Genotyping in progress
Categories of data: genetic and clinical
Data recipients: project owners and staff specifically empowered and trained under their responsibility, for the exclusive needs of the UCL London project
Legal basis: performance of a task in the public interest entrusted to the controller
Retention period: up to 5 years after publication of the results of the main analysis.
Contacts : contact.rechercheclinique@icm-institute.org
- LongSCAPS: Long Read Sequennium for the Study of Repetitions and Structural Variants in Spinocerebeller Densities
Date of posting: 12/2021
Treatment Manager: Paris Brain Institute
Scientific Officer: Prof. Alexandra Durr
Nature of project: genomic sequencing
Key words: spinocerebral degeneration (cerebellar ataxia and hereditary spastic paraplegia)
Objective: project using last generation complete genomic sequencing “long readings” to identify unresolved causes of spinocerebral degeneration.
Project status/status: ongoing
Categories of data: genetic data
Data addressees: project promoter and staff specifically empowered and trained under his responsibility, for the exclusive needs of the project (methodologists, statisticians) of the National Research Centre for Human Genomics (CNRGH) in Évry (France).
Legal basis: E-performance of a mission of public interest entrusted to the controller
Retention period:
Contact : contact.rechercheclinique@icm-institute.org
- SCA non-polyQ: spinocerebral Ataxia not caused by pathological expansions of CAG triplets
Date of posting: 07/2020
Treatment Manager: Paris Brain Institute
Scientific Officer: Dr. Giulia Coarelli
Keywords: spinocerebral Ataxia not caused by pathological expansions of CAG triplets
Objective: international collaboration to collect, through a common database, the clinical and genetic data and all the additional medical examinations needed to understand these rare ataxia.
Project status/status: analyses in progress
Categories of data: clinical and genetic
Data recipients: Project Sponsors and staff specifically authorized and trained under their responsibility for the exclusive needs of the project. Clinician partners of the project to enter their data directly into the database.
Legal basis: performance of a task in the public interest entrusted to the controller
Retention period: up to 10 years after publication of the results of the main analysis.
Contacts: Dr. Giulia Coarelli and Ms. Rania Hilab (Clinical Research Associate)
contact.rechercheclinique@icm-institute.org
Articles publiés : Cunha P, Petit E, Coutelier M, Coarelli G, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A*. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. Am J Hum Genet. 2023 Jun 6:S0002-9297(23)00166-0. doi: 10.1016/j.ajhg.2023.05.009.
Studies UCS
Clinical-genetic study of the pathologies of the basal ganglia
Promoter or Head of the initial research: Inserm, 101 rue de Tolbiac, 75013 Paris
The project brings together a national network of clinicians specializing in the ailments of the basal ganglia. Its objective is to advance our knowledge of the molecular basis of these diseases by collecting large-scale clinical and genetic data in a standardized manner.
The populations studied in this research are patients with anomalous movements due to UCS (i.e. Parkinson's Disease, Huntington's Disease, Essential Trembling…) as well as related relatives and healthy subjects.
The aim of the project is to identify the genetic susceptibility factors involved in the pathologies of the basal ganglia, those that modify their expression, identify biomarkers and determine the natural evolution of these diseases and their different manifestations.
To this end, the following national and international collaborations have been established:
Status/ Progress of project: closed
Data source: resources collected directly from individuals as part of the NGC Research.
Legal basis: carrying out a mission of public interest entrusted to the ICM Foundation
Transfer of data outside the European Union: not within the scope of the Spatax sample and data retention activity.
If transfers were to be considered as part of future scientific collaborations, specific information would be made available on this site, including the safeguards put in place.
Retention period: 20 years from the date of transfer
Rights of data subjects: contact Pr. Alexandra Durr (contact.rechercheclinique@icm-institute.org)
- Research of biomarkers to prepare a therapeutic trial in Huntington's disease
Date of posting: 01/2021
Processing manager: Brainvectis
Scientific Officer: Prof. Alexandra Durr
Key words: Huntington's disease
Objective: identification of specific biomarkers to be used in the upcoming therapeutic trial
Project Status/Status: 12/2021
Data categories: result of analyses of biological and clinical data
Data recipients: project promoters and staff specifically authorized and trained under their responsibility for the exclusive needs of the project (methodologists, statisticians)
Legal basis: legitimate interests pursued by the controller
Retention period: NA
Contact : contact.rechercheclinique@icm-institute.org
- IPDGC : International Parkinson’s disease genomics consortium
International collaboration https://pdgenetics.org
Nature of the project: sharing of data and biological samples
Pathology: Parkinson's disease
Objective: to identify the molecular basis and pathophysiology of Parkinson's disease (new genes, genetic susceptibility factors, phenotype or penetrance modifying genes, pathophysiological mechanisms).
Contact: Ms. Yajiththa RAJASEGARAM (Clinical Research Attaché)
- GP2 : Global Parkinson’s Genetics program et ASAP : Aligning Science Across Parkinson’s Initiative https://www.michaeljfox.org/grant/global-parkinsons-genetics-program-gp2
Collaborative project with multiple teams on all 5 continents
Nature of project: sharing of data (clinical and longitudinal paraclinical) and biological samples
Pathology: Parkinson's disease
Objective: to discover the molecular determinants of Parkinson's disease (population-based gene(s) and genetic susceptibility factors, phenotype and penetrance modifier genes, interaction with environmental factors, pathophysiological mechanisms and therapeutic approaches).
Contact: Ms. Yajiththa RAJASEGARAM (Clinical Research Attaché)
Iceberg Study (Pr. Marie Vidailhet)
Investigation of factors predictive of onset and progression of Parkinson’s disease
Initial Study Sponsor/Processor: Inserm
Study population: the populations studied in this research are patients with Parkinson’s disease (PD), REM sleep disorders, and related relatives and healthy subjects.
Project objectives: the strategy is to identify early the evolutionary factors of the disease and to consider therapeutic measures to change its course or to identify risk groups requiring a personalized approach.
Thus, our approach aims to:
- Identify markers prior to the onset of motor signs
- Identify PD progression markers
- Isolate prognostic factors
The identification of sub-populations at risk of rapid evolution or with particular evolutionary profiles could lead to the development of targeted therapeutics.
This research is therefore intended to identify and validate markers for predicting and monitoring the progression of dopaminergic and non-dopaminergic PD lesions from the prodromal and clinical expression phases.
To this end, the following national and international collaborations have been established:
- Spatiotemporal Changes in Substantia Nigra Neuromelanin Content in Parkinson’s Disease
Collaboration with Emma Biondetti https://academic.oup.com/brain/article/143/9/2757/5898381?login=true
Nature of project: data sharing (longitudinal clinical and paraclinical)
Pathology: Parkinson's disease
The objective of this study is to study the spatiotemporal changes of neuromelanin in the substantia nigra and their relationship to clinical scores assessing the severity of Parkinson’s disease in patients with early or progression and patients with Idiopathic REM Sleep Behaviour Disorder (iRBD) free of parkinsonian signs compared to healthy subjects.
Contact : Mme Alizé Chalançon - opposition.recherche.iceberg@icm-institute.org
- Changes in Neuromelanin MRI Signal in Parkinson’s Disease: A Longitudinal Study
Collaboration with Raul Gaurav
https://movementdisorders.onlinelibrary.wiley.com/doi/full/10.1002/mds.28531
Nature of project: data sharing (longitudinal clinical and paraclinical)
Pathology: Parkinson's disease
Objective: We studied neuromelanin signal changes in patients with Parkinson’s disease and explored its potential value as a biomarker of disease progression in neuroprotective clinical trials.
Contact : Mme Alizé Chalançon - opposition.recherche.iceberg@icm-institute.org
- Longitudinal comparison of subjects with and without Sleep Disorders in Parkinson’s Disease
Collaboration with Raphaël Couronné https://hal.archives-ouvertes.fr/hal-02945917v2/document
Nature of project: data sharing (longitudinal clinical and paraclinical)
Pathology: Parkinson's disease
Objective: We described the overall pattern of progression in PD subgroups using a model that describes the continuous progression of biomarkers at the population and individual level. This approach can be used to model the variability of progression and stage models between patients.
Contact : Mme Alizé Chalançon - opposition.recherche.iceberg@icm-institute.org
- Early detection of Parkinson’s disease through voice analysis and correlations with neuroimaging
Collaboration with Laëtitia Jeancolas https://tel.archives-ouvertes.fr/tel-02470759
Nature of project: data sharing (longitudinal clinical and paraclinical)
Pathology: Parkinson's disease
Objective: The objective of this thesis was to study voice changes in the early and preclinical stages of Parkinson's disease, and to develop models for automatic early detection and monitoring of this disease. The long-term goal is to be able to build an early diagnosis and follow-up tool, inexpensive, usable by office doctors, and even more interesting, from any telephone.
Contact : Mme Alizé Chalançon - opposition.recherche.iceberg@icm-institute.org
- Social Cognition and Parkinson's Disease: A Frequent, Early and Isolated Symptom
Collaboration with Virginie Czernecki, Eve Benchetrit, Fanny Pineau bit.ly/3uHj8XA
Nature of project: data sharing (longitudinal clinical and paraclinical)
Pathology: Parkinson's disease
Social cognitive impairment (CSD) has recently been described in the early stages of Parkinson's disease, but the results remain uncertain. Our objective was to determine the frequency of CS impairment in newly diagnosed patients and whether it is independent of mild cognitive impairment.
Contact : Mme Alizé Chalançon - opposition.recherche.iceberg@icm-institute.org
- Iron Imaging As A Diagnostic Tool For Parkinson's Disease: A Systematic Review And Meta-Analysis
Collaboration with Nadya Pyatigorskaya https://www.frontiersin.org/articles/10.3389/fneur.2020.00366/full
Nature of project: data sharing (longitudinal clinical and paraclinical)
Pathology: Parkinson's disease
Objective: We conducted a systematic meta-analysis of iron imaging studies of substantia nigra in Parkinson’s disease to better understand the role of iron-sensitive MRI quantification in distinguishing patients from healthy controls. We also investigated factors that may influence iron quantification and analyzed the correlations between demographic and clinical data and iron loading.
Contact : Mme Alizé Chalançon - opposition.recherche.iceberg@icm-institute.org
- Parkinson’s disease propagation using MRI biomarkers and partial least squares path modeling
Collaboration with Nadya Pyatigorskaya https://n.neurology.org/content/96/3/e460.abstract
Nature of project: data sharing (longitudinal clinical and paraclinical)
Pathology: Parkinson's disease
The classical model of Braak’s neuropathological staging in Parkinson’s disease suggests that brain lesions progress from medullary oblongata to cortex. An alternative model in which neurodegeneration occurs first in the cortex has also been proposed. These two models may correspond to different patient phenotypes. To test these two models and determine if they were influenced by the presence of REM sleep behaviour disorders (RRDs), we used multimodal MRI and partial least squares trajectory modeling (PLS-PM) assuming that patients with RRDs had a distinct neurodegeneration pattern.
Contact : Mme Alizé Chalançon - opposition.recherche.iceberg@icm-institute.org
- DIGIPD : Validating DIGItal biomarkers for better personalized treatment of Parkinson's Disease
International collaboration with different research teams
(France, Allemagne, Luxembourg, Belgique) https://www.digipd.eu/en/objectives.html
Nature of the project: sharing of data (longitudinal clinical and paraclinical)
Pathology: Parkinson's disease
Objective: DIGIPD evaluates modern digital technology for impaired walking, voice, and facial movements. In evaluating these digital biomarkers, DIGIPD unravels the relationship between numerical measurements, established clinical questionnaires and molecular biomarkers by testing whether they can distinguish between patients with PD and control patients and whether they are relevant for predicting disease progression using artificial intelligence. In addition, it will allow pharmaceutical companies to use data from a group of patients with similar disease progression to increase the chances of clinical trials of new personalized drugs.
Contact : Mme Alizé Chalançon - opposition.recherche.iceberg@icm-institute.org
