MOCHEL Fanny

Professor Mochel heads the Paris Adult Leukodystrophy Rare Disease Reference Center and the Paris Adult Neurometabolic Rare Disease Reference Center. The central focus of her research is to understand and treat metabolic dysfunctions of the brain and myelin disorders, using rare disease models within an integrative, translational, and interdisciplinary framework.

Her research projects are organized around 3 main areas:

• The study of neurometabolism through the integration of omics data (transcriptomics, metabolomics, and lipidomics) and multiparametric imaging analyses (volumetry, NMR spectroscopy, diffusion tensor imaging, and elastography);
• The identification and validation of new treatments for neurometabolic diseases and leukodystrophies;
• An interdisciplinary approach to neurometabolism, exploring the connections between physics and metabolism in brain function.

• Yska HAF, Golse M, Galanaud D, Amartino HM, Bergner C, Bruschi F, Eichler FS, Fatemi A, García-Cazorla À, Gomez-Chiari M, Köhler W, Loes D, Lund T, Mallack EJ, Moscatelli M, Musolino PL, Nascene DR, Orthmann-Murphy JL, Parazzini C, Pouwels PJW, Ribeiro-Constante J, Roosendaal SD, Salsano E, Sgobbi PV, Sevin C, Smith Fine A, Tonduti D, Van Haren K, Zerem A, Engelen M, Mochel F. Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research. Neurology. 2026 Mar 10;106(5):e214657.
• Mochel F, de Oyarzábal Sanz A, Pías Peleteiro L, Ribeiro-Constante J, Bassereau P, Chalut K, Cognet L, Cronin L, Hameroff S, López-Murcia FJ, Pillai EK, Sales-Pardo M, Straube A, Hallou A, Garcia-Cazorla A. Connections between physics and metabolism in brain functions. iScience. 2026 Jan 7;29(2):114643.
• Yska HAF, Golse M, Beerepoot S, Hayer S, Bergner C, de Paiva ARB, Marelli C, Palacios NJ, Osorio YL, Huiban C, Franke G, Wortmann F, Holtick U, Ayrignac X, van der Knaap MS, Schöls L, Perlbarg V, Galanaud D, de Witte MA, Wolf NI, Nguyen S, Mochel F on behalf of the International CSF1R‐RD Working Group. Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder. Mov Disord. 2025 Sep;40(9):1826-1835.
• Mochel F, Méneret A, Adanyeguh IM, Giron C, Hainque E, Luton MP, Atencio M, Debs R, Jacobs M, Veldkamp FCM, Barbier M, Coppen EM, van der Zwaan KF, Diallo A, Ottolenghi C, Vicaut E, Roos RA, Durr A. Effect of Triheptanoin on Caudate Atrophy and Motor Scores in Patients With Early-Stage Huntington Disease: A Phase II Study. Neurology. 2025 Jan 28;104(2):e210194.
• Golse M, Weinhofer I, Blanco B, Barbier M, Yazbeck E, Huiban C, Chaumette B, Pichon B, Fatemi A, Pascual S, Martinell M, Berger J, Perlbarg V, Galanaud D, Mochel F. Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy. Brain. 2024 Oct 3;147(10):3344-3351.
• Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group. Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome. Neurology. 2023 Jun 6;100(23):e2360-e2373.
• Köhler W, Engelen M, Eichler F, Lachmann R, Fatemi A, Sampson J, Salsano E, Gamez J, Molnar MJ, Pascual S, Rovira M, Vilà A, Pina G, Martín-Ugarte I, Mantilla A, Pizcueta P, Rodríguez-Pascau L, Traver E, Vilalta A, Pascual M, Martinell M, Meya U, Mochel F on behalf of the ADVANCE Study Group. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial. Lancet Neurol. 2023 Feb;22(2):127-136.
• Mochel F, Delorme C, Czernecki V, Froger J, Cormier F, Ellie E, Fegueux N, Lehéricy S, Lumbroso S, Schiffmann R, Aubourg P, Roze E, Labauge P, Nguyen S. Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. J Neurol Neurosurg Psychiatry. 2019 Dec;90(12):1375-1376.
• Hainque E, Gras D, Meneret A, Atencio M, Luton MP, Barbier M, Doulazmi M, Habarou F, Ottolenghi C, Roze E, Mochel F. Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect. J Neurol Neurosurg Psychiatry. 2019 Nov;90(11):1291-1293.
• van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger- Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. Neurology. 2019 Mar 12;92(11):e1225-e1237.