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

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.

Full Title of Study: “Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies”

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: N/A
    • Intervention Model: Single Group Assignment
    • Primary Purpose: Other
    • Masking: None (Open Label)
  • Study Primary Completion Date: September 30, 2021

Interventions

  • Other: Standardized strength, respiratory and motor function assessments
    • Standardized assessments will be adjusted by the age, the ambulant status and the respiratory status of the patient. The visit frequency will also be adjusted according to the age and to the time spent in the study varying between quarterly to yearly.

Clinical Trial Outcome Measures

Primary Measures

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

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Institut de Myologie, France
  • Collaborator
    • Dynacure
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Laurent Servais, MD, Principal Investigator, Centre de référence neuromusculaire, CHR La Citadelle; 4000 Liege Belgium

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