Natural History Study of Patients With Centronuclear Myopathies

NCT04977648 | Withdrawn

• 1 other identifier: NH-CNM-001
• Study Type: observational
• Target: N/A
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Centronuclear Myopathy

Keywords

Muscular Diseases; Myopathies, Structural, Congenital; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases

Outcome Measures

Primary Outcomes (3)

• Change from baseline in the Motor Function Measure (MFM32) for neuromuscular diseases.

  The MFM32 assessment will be based on subject age. Scoring from 0 (cannot initiate the task) to 3 (performs the task fully).

  Baseline, Up to 36 months

• Change from baseline in the Peak Inspiratory Pressure (PIP).

  The PIP assessment will be based on subject age and ventilation status. Results will be expressed in cmH2O.

  Baseline, Up to 36 months

• Change from baseline in the in Peak Expiratory Pressure (PEP).

  The PEP assessment will be based on subject age and ventilation status. Results will be expressed in cmH2O.

  Baseline, Up to 36 months

Secondary Outcomes (4)

• Change from baseline in the Pediatric Quality of Life inventory (PedsQL™).

  Baseline, Up to 36 months

• Change from baseline in the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND).

  Baseline, Up to 36 months

• Change from baseline in the (Pediatric) Eating Assessment Tool-10 ([Pedi]-EAT-10).

  Baseline, Up to 36 months

• Change from baseline in the Meaningful Use of Speech Scale (MUSS).

  Baseline, Up to 36 months

Eligibility Criteria

• Age: 0 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients of all ages (newborns included) with a CNM resulting from mutations in DNM2 or MTM1.

You may qualify if:

• \. 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.
• \. 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.
• \. Willing and able to comply with all protocol requirements and procedures.

You may not qualify if:

• \. Participation in any other interventional study. Participation in a previous study should be completed at least 4 weeks before the first study visit.
• \. Currently undergoing or has undergone previous gene therapy or other therapy for CNM.
• \. 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.
• \. 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).
• \. 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.

Sponsors & Collaborators

• Dynacure: lead

Biospecimen

Retention: SAMPLES WITH DNA

Blood and optional biomarker/genetic samples

MeSH Terms

Conditions

Myopathies, Structural, Congenital; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 21, 2021
• First Posted: July 27, 2021
• Study Start: September 1, 2022
• Primary Completion: March 1, 2026
• Study Completion: March 1, 2026
• Last Updated: July 11, 2022

Record last verified: 2022-07

Data Sharing

• IPD Sharing: Will not share