Clinical trial NCT04977648: Natural History Study of Patients With Centronuclear Myopathies
Official title: A Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Centronuclear Myopathies
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: Centronuclear Myopathy
Keywords: Muscular Diseases
Myopathies, Structural, Congenital
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Lead sponsor: Dynacure
Sponsor class: INDUSTRY
First posted: 2021-07-27
Enrollment: 0
Sex: ALL
Minimum age (years): 0
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients of all ages (newborns included) with a CNM resulting from mutations in DNM2 or MTM1.

Brief summary: This is a prospective, longitudinal study of the natural disease course intended to recruit approximately 60 patients with centronuclear myopathies (CNM) in Europe and the United States. The duration of the study, including the enrollment period, will be approximately 4 years. Data from the study will be used to characterize the natural disease course of CNM, to identify prognostic variables of the disease and to determine the best outcome measure(s) for the evaluation of future therapeutic approaches.


Eligibility criteria: Inclusion Criteria:

* 1. Clinically symptomatic male or female subjects of all ages (newborns included) with a CNM resulting from a documented mutation in the MTM1 or DNM2 gene.
* 2. A written, signed and dated informed consent must be provided to participate in the study. For subjects \<18 years, consent of parent(s)/legal guardian(s) is required; informed assent can be obtained from the child according to local regulations.
* 3. Willing and able to comply with all protocol requirements and procedures.

Exclusion Criteria:

* 1. Participation in any other interventional study. Participation in a previous study should be completed at least 4 weeks before the first study visit.
* 2. Currently undergoing or has undergone previous gene therapy or other therapy for CNM.
* 3. Current or past abuse of alcohol or recreational/narcotic drugs (with the exception of caffeine and nicotine), which in the investigator's opinion would compromise the subject's safety and/or compliance with the study procedures.
* 4. Current or relevant history of physical or psychiatric illness, that would make the subject unlikely to comply with the study procedures. (Note: Subjects in a wheelchair are not to be excluded).
* 5. Subject is mentally incapacitated, or parent(s)/legally-authorized representative are legally incapacitated or have limited legal capacity, or have lack of mental capacity to fully understand the protocol requirements and complete all study required procedures.

Primary outcomes:
measure: Change from baseline in the Motor Function Measure (MFM32) for neuromuscular diseases.
timeFrame: Baseline, Up to 36 months
measure: Change from baseline in the Peak Inspiratory Pressure (PIP).
timeFrame: Baseline, Up to 36 months
measure: Change from baseline in the in Peak Expiratory Pressure (PEP).
timeFrame: Baseline, Up to 36 months
Secondary outcomes:
measure: Change from baseline in the Pediatric Quality of Life inventory (PedsQL™).
timeFrame: Baseline, Up to 36 months
measure: Change from baseline in the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND).
timeFrame: Baseline, Up to 36 months
measure: Change from baseline in the (Pediatric) Eating Assessment Tool-10 ([Pedi]-EAT-10).
timeFrame: Baseline, Up to 36 months
measure: Change from baseline in the Meaningful Use of Speech Scale (MUSS).
timeFrame: Baseline, Up to 36 months
Other outcomes:
Locations:
Study officials:
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