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Completed

NCT Number: NCT03351270

Prospective Natural History Study 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.

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Key information

Conditions

Centronuclear Myopathy Muscular Diseases Musculoskeletal Diseases Myopathies, Structural, Congenital Nervous System Diseases Neuromuscular Diseases

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Centre de référence neuromusculaire, CHR La Citadelle, Liège, Belgium

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Standardized strength, respiratory and motor function assessments

Other

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.

Primary outcomes

  1. 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.

  2. 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

  3. 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

  4. Moviplate score change from baseline

    Time frame: Baseline, 6 months, 12 months and every year up to 60 months

    Moviplate score

  5. 6MWD change from baseline

    Time frame: Baseline, 6 months, 12 months and every year up to 60 months

    6 Minute Walking Distance

  6. Grip strength change from baseline

    Time frame: Baseline, 6 months, 12 months and every year up to 60 months

    MyoGrip

  7. Pinch strength change from baseline

    Time frame: Baseline, 6 months, 12 months and every year up to 60 months

    MyoPinch

  8. Forced Vital Capacity change from baseline

    Time frame: Baseline, 6 months, 12 months and every year up to 60 months

  9. Peak Cough Flow change from baseline

    Time frame: Baseline, 6 months, 12 months and every year up to 60 months

  10. Maximum Inspiratory Pressure change from baseline

    Time frame: Baseline, 6 months, 12 months and every year up to 60 months

  11. Maximum Expiratory Pressure change from baseline

    Time frame: Baseline, 6 months, 12 months and every year up to 60 months

Sponsors and collaborators

Lead sponsor

Institut de Myologie, France

Other

Collaborators

  • Dynacure

Registry information

Official study title

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

Acronym: NatHis-CNM

Important dates

Study start
2017
Primary completion
2021
Study completion
2021
First posted
Nov 22, 2017
Registry last updated
Mar 2, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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