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

Not Applicable

Completed

• Conditions: Centronuclear Myopathy

• Registration Number: NCT03351270
• Lead Sponsor: Institut de Myologie, France

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2017-05-28
• Study First Submitted: 2017-11-14
• Study First Submitted QC: 2017-11-21
• Study First Posted: 2017-11-22
• Primary Completion: 2021-09-30
• Study Completion: 2021-09-30
• Status Verified: 2023-03
• Last Update Submitted: 2023-03-01
• Last Update Posted: 2023-03-02

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 60

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Modified Hammersmith score change from baseline	Baseline, 6 months, 12 months and every year up to 60 months	Modified Hammersmith Functional Motor Scale. The total test score can range from 0 if the subject cannot perform any of the items to 40 if all the items are fully achieved
MFM score change from baseline	Baseline, 6 months, 12 months and every year up to 60 months	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.
Peak Cough Flow change from baseline	Baseline, 6 months, 12 months and every year up to 60 months
Moviplate score change from baseline	Baseline, 6 months, 12 months and every year up to 60 months	Moviplate score
6MWD change from baseline	Baseline, 6 months, 12 months and every year up to 60 months	6 Minute Walking Distance
Pinch strength change from baseline	Baseline, 6 months, 12 months and every year up to 60 months	MyoPinch
Forced Vital Capacity change from baseline	Baseline, 6 months, 12 months and every year up to 60 months
CHOP-INTEND score change from baseline	Baseline, 6 months, 12 months and every year up to 60 months	Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders
Maximum Inspiratory Pressure change from baseline	Baseline, 6 months, 12 months and every year up to 60 months
Maximum Expiratory Pressure change from baseline	Baseline, 6 months, 12 months and every year up to 60 months
Grip strength change from baseline	Baseline, 6 months, 12 months and every year up to 60 months	MyoGrip

Trial Locations

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

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