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

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ClinicalTrials.gov Identifier: NCT03351270
Recruitment Status : Recruiting
First Posted : November 22, 2017
Last Update Posted : November 25, 2020
Sponsor:
Collaborator:
Dynacure
Information provided by (Responsible Party):
Institut de Myologie, France

Tracking Information
First Submitted Date  ICMJE November 14, 2017
First Posted Date  ICMJE November 22, 2017
Last Update Posted Date November 25, 2020
Actual Study Start Date  ICMJE May 28, 2017
Estimated Primary Completion Date September 30, 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: November 22, 2017)
  • 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 ]
Original Primary Outcome Measures  ICMJE
 (submitted: November 21, 2017)
  • MFM score change from baseline [ Time Frame: Baseline, 6 months, 12 months and every year up to 60 months ]
    Motor Function Measure scale
  • 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
  • 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 ]
Change History
Current Secondary Outcome Measures  ICMJE Not Provided
Original Secondary Outcome Measures  ICMJE Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
Official Title  ICMJE Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
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 Provided
Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Other
Condition  ICMJE Centronuclear Myopathy
Intervention  ICMJE 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.
Study Arms  ICMJE Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Recruiting
Estimated Enrollment  ICMJE
 (submitted: November 23, 2020)
70
Original Estimated Enrollment  ICMJE
 (submitted: November 21, 2017)
60
Estimated Study Completion Date  ICMJE September 30, 2022
Estimated Primary Completion Date September 30, 2022   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE Child, Adult, Older Adult
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE
Contact: Emmanuelle Lagrue, MD +33 1 44 73 65 44 e.lagrue@institut-myologie.org
Listed Location Countries  ICMJE Belgium,   France,   Germany,   Italy,   Spain
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT03351270
Other Study ID Numbers  ICMJE NatHis-CNM
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Institut de Myologie, France
Study Sponsor  ICMJE Institut de Myologie, France
Collaborators  ICMJE Dynacure
Investigators  ICMJE
Principal Investigator: Laurent Servais, MD Centre de référence neuromusculaire, CHR La Citadelle; 4000 Liege Belgium
PRS Account Institut de Myologie, France
Verification Date November 2020

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP