Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
Launched by INSTITUT DE MYOLOGIE, FRANCE · Nov 21, 2017
Trial Information
Current as of June 01, 2025
Completed
Keywords
ClinConnect Summary
No description provided
Gender
ALL
Eligibility criteria
- Inclusion Criteria:
- • Patients of any age (newborns included) may participate
- • Patients over 18 years of age and parent(s)/legal guardian(s) of patients \< 18 years of age must be provide written informed consent prior to participating in the study and informed assent will be obtained from minors at least 7 years of age when required by regulation.
- • Myotubular Centronuclear myopathy (MTMCNM) resulting from a mutation in the MTM1, DNM2 or BIN1 gene
- • Male or symptomatic female. A symptomatic female will be defined by the motor function assessment by Motor Function Measure (MFM) or North Star Ambulatory Assessment (NSAA) below 80% of the total score.
- • Willing and able to comply with all protocol requirements and procedures.
- • In France only: Affiliated to or a beneficiary of a social security category
- Exclusion Criteria:
- • Other disease which may significantly interfere with the assessment of the MTM CNM and is clearly not related to the disease
- • Currently enrolled in a treatment study; or treatment with an experimental therapy other than pyridostigmine
- • For women: pregnancy or current breastfeeding
About Institut De Myologie, France
The Institut de Myologie, based in France, is a leading research center dedicated to the study of muscle diseases and disorders. Renowned for its multidisciplinary approach, the institute combines cutting-edge scientific research with clinical expertise to advance understanding and treatment of myopathies. With a strong emphasis on innovation, the Institut de Myologie actively sponsors clinical trials aimed at developing new therapeutic strategies and improving patient outcomes. Its collaborative environment fosters partnerships with academic institutions, healthcare providers, and industry stakeholders, positioning it at the forefront of myology research and clinical trials in Europe.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Paris, , France
Lyon, , France
Toulon, , France
Paris, , France
Liège, , Belgium
Bron, , France
Lille, , France
Paris, , France
Essen, , Germany
Roma, , Italy
Cadiz, , Spain
Patients applied
Trial Officials
Laurent Servais, MD
Principal Investigator
Centre de référence neuromusculaire, CHR La Citadelle; 4000 Liege Belgium
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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