The team

Maya Tchikviladze is a neurologist, trained at Tbilisi State University and at Hôpital de la Pitié-Salpêtrière, where she also headed the medical service of the Clinical Investigation Center (CIC). She later worked at Hôpital Foch, focusing on cerebral white matter disorders and neurovascular diseases. She currently works part-time within CRMR teams (Clinical and Research Center for Rare Diseases) specializing in adult leukodystrophies and neurometabolic diseases, as well as within the MIND research team. She is also trained in acupuncture and has been an Associate Professor of Neurology at ALTE University since 2025.

Bernardo Blanco is a PhD-qualified engineer and project manager with a scientific background focused on the molecular mechanisms of rare white matter diseases.

He oversees and coordinates clinical and research activities within reference centers for adult neurometabolic diseases and leukodystrophies, both at local and national levels, working in close collaboration with reference center partners.

Valérie Gaudin is specialized in dietary management for inherited metabolic disorders. She is a member of the dietitians’ working group of the French Society for Inborn Errors of Metabolism (SFEIM). She is responsible for the nutritional follow-up of patients treated with triheptanoin, a medium-chain triglyceride with innovative energy properties. She also works as a trainer in patient education programs for the ketogenic diet.

Camille Huiban’s role is to assess cognitive function through neuropsychological evaluations that take into account several parameters such as memory, language, attention, executive functions, and visuo-constructive praxis. She also evaluates patients in routine clinical care as well as in the IGNITE and CALDIFF clinical trials.

Manon Robert provides care for the psychological distress of patients and their caregivers by offering clinical interviews and follow-up tailored to their needs. She is also involved in the presymptomatic diagnostic pathway for individuals at risk of leukodystrophies, helping address complex questions regarding the timing of genetic testing and anticipating the post-test period. Ms. Robert participates in clinical trials and teaches university seminars in clinical psychopathology focused on neuropsychiatric disorders.

Leslie Delachaux is a genetic counselor. Her role is to support patients with mitochondrial diseases and their families in understanding the disease and its genetic implications. She provides information on patterns of genetic inheritance, risks for offspring, and helps patients communicate this information to family members who may also be affected. She serves as secretary of the French Association of Genetic Counselors and is involved in teaching within the Genetic Counseling Master’s program at Université Paris-Cité.

Heidy Baide has a scientific and medical background in inherited metabolic diseases. She contributes to coordinating the care pathway for patients with neurometabolic disorders at the Adult Neurometabolic Rare Diseases Reference Center (CRMR). She supports patients and their families in their specialized follow-up care.

Samira Ouamkal is the first point of contact for patient care coordination and administrative support. She can be reached by email and telephone for orientation and assistance with the care pathway.

Irene García Ramos is a hospital-based clinical research associate within the Adult Leukodystrophy Reference Center. Her role involves coordinating interventional and observational clinical studies conducted by the reference center. She works in collaboration with the various hospital departments involved in patient care (genetics, neurology, hematology, etc.), as well as with partner laboratories and biotechnology companies.

Anne-Marie Mukundwa is a clinical research associate within the Adult Leukodystrophy Reference Center. Her role is to coordinate clinical studies in collaboration with several departments of the Pitié-Salpêtrière Hospital as well as research platforms at the Paris Brain Institute. She is also responsible for managing investigational medicinal product workflows and biobanks within the context of clinical studies.

Diane Yonta is a clinical research associate within the adult neurometabolic and leukodystrophy reference centers. In addition to her active involvement in the centers’ clinical research studies, she coordinates the scheduling of standardized patient assessments in routine clinical care. She is also responsible for collecting activity data from both CRMRs.