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Search / Trial NCT03351270

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

Cnm Xlmtm Myotubular Myopathy

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.

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

0 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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