Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies (NatHis-CNM)

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies

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 Overview

• Status: Completed
• Conditions: Centronuclear Myopathy
• Intervention / Treatment: Other: Standardized strength, respiratory and motor function assessments

• Study Type: Interventional
• Enrollment (Actual): 60
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Emmanuelle Lagrue, MD; Phone Number: +33 1 44 73 65 44; Email: e.lagrue@institut-myologie.org

Study Locations

• Belgium
  • Liège, Belgium, 4000
    • Centre de référence neuromusculaire, CHR La Citadelle
• France
  • Bron, France, 69500
    • Hôpital Femme Mère Enfant, CHU Lyon L'Escale
  • Lille, France, 59000
    • Hôpital Roger Salengro, CHU Lille
  • Lyon, France, 69004
    • Hopital de la Croix Rousse
  • Paris, France, 75012
    • Hopital Armand Trousseau
  • Paris, France, 75013
    • Institute of Myology
  • Paris, France, 75012
    • I-Motion Institute - Trousseau Hospital
  • Toulon, France, 83056
    • Hôpital Sainte Musse
• Germany
  • Essen, Germany, D-45147
    • Universitätsklinikum Essen (AöR)
• Italy
  • Roma, Italy, 00146
    • Bambino Gesù Children's Hospital
• Spain
  • Cadiz, Spain, 21-11009
    • Hospital Puerta del Mar

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	Baseline, 6 months, 12 months and every year up to 60 months
CHOP-INTEND score change from baseline	Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders	Baseline, 6 months, 12 months and every year up to 60 months
Modified Hammersmith score change from baseline	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	Baseline, 6 months, 12 months and every year up to 60 months
Moviplate score change from baseline	Moviplate score	Baseline, 6 months, 12 months and every year up to 60 months
6MWD change from baseline	6 Minute Walking Distance	Baseline, 6 months, 12 months and every year up to 60 months
Grip strength change from baseline	MyoGrip	Baseline, 6 months, 12 months and every year up to 60 months
Pinch strength change from baseline	MyoPinch	Baseline, 6 months, 12 months and every year up to 60 months
Forced Vital Capacity change from baseline		Baseline, 6 months, 12 months and every year up to 60 months
Peak Cough Flow change from baseline		Baseline, 6 months, 12 months and every year up to 60 months
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

Collaborators and Investigators

• Sponsor: Institut de Myologie, France
• Collaborators: Dynacure
• Investigators: Principal Investigator: Laurent Servais, MD, Centre de référence neuromusculaire, CHR La Citadelle; 4000 Liege Belgium

Study record dates

Study Major Dates

• Study Start (Actual): May 28, 2017
• Primary Completion (Actual): September 30, 2021
• Study Completion (Actual): September 30, 2021

Study Registration Dates

• First Submitted: November 14, 2017
• First Submitted That Met QC Criteria: November 21, 2017
• First Posted (Actual): November 22, 2017

Study Record Updates

• Last Update Posted (Actual): March 2, 2023
• Last Update Submitted That Met QC Criteria: March 1, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Keywords: XLMTM; CNM; Myotubular myopathy
• Additional Relevant MeSH Terms: Nervous System Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Muscular Diseases; Myopathies, Structural, Congenital
• Other Study ID Numbers: NatHis-CNM

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No