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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 24, 2017
Sponsor:
Collaborator:
Dynacure
Information provided by (Responsible Party):
Institut de Myologie, France

November 14, 2017
November 22, 2017
November 24, 2017
May 28, 2017
May 2019   (Final data collection date for primary outcome measure)
  • 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 ]
  • 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 ]
Complete list of historical versions of study NCT03351270 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
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 European part of the prospective and longitudinal study of the natural history and function of patients with myotubular myopathy (MTM) initially sponsored by Valerion therapeutics. Twenty additional patients with other centronuclear myopathies (CNM) (due to mutation in MTM1 but also in DNM2 or BIN1 genes) are planned to be enrolled in one year leading to an expected total number of 60 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.
Not Provided
Interventional
Not Applicable
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Other
Centronuclear Myopathy
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.
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
60
Same as current
May 2019
May 2019   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
Child, Adult, Older Adult
No
Contact: Laurent Servais, MD +33 1 44 73 65 44 l.servais@institut-myologie.org
Belgium,   France,   Germany,   Italy,   Spain
 
 
NCT03351270
NatHis-CNM
No
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Not Provided
Institut de Myologie, France
Institut de Myologie, France
Dynacure
Principal Investigator: Laurent Servais, MD Association Institut de Myologie
Institut de Myologie, France
November 2017

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