Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies

Institut de Myologie, France60 enrolled

Overview

This is the 2 years extension of the prospective and longitudinal study of the natural history and functional status of patients with myotubular myopathy and other centronuclear (CNM) sponsored by Dynacure including ten additional pediatric patients with mutation in MTM1 or DNM2 genes). the patients are planned to be enrolled in one year leading to an expected total number of 70 patients followed at least over 1 year period. Data from the study will be used to characterize the disease course of CNM and determine which outcome measures will be the best to assess the efficacy of potential therapies.

Study Type

INTERVENTIONAL

Allocation

Purpose

OTHER

Masking

NONE

Enrollment

Conditions

Centronuclear Myopathy

Interventions

Standardized strength, respiratory and motor function assessments

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (11)

Centre de référence neuromusculaire, CHR La Citadelle

Liège, Belgium

Hôpital Femme Mère Enfant, CHU Lyon L'Escale

Bron, France

Hôpital Roger Salengro, CHU Lille

Lille, France

Hôpital de la Croix Rousse

Lyon, France

Hôpital Armand Trousseau

Paris, France

I-Motion Institute - Trousseau Hospital

Paris, France

Institute of Myology

Paris, France

Hôpital Sainte Musse

Toulon, France

Universitätsklinikum Essen (AöR)

Essen, Germany

Bambino Gesu Children's Hospital

Roma, Italy

...and 1 more locations

Outcomes

Primary Outcomes

MFM score change from baseline

Motor Function Measure scale. The total test score can range from 0 if the subject cannot perform any of the items to 100 if all the items are fully achieved.