Natural History Study of Patients With Centronuclear Myopathies

Brief Title

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

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.
    



Study Type

Observational


Primary Outcome

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

Secondary Outcome

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

Condition

Centronuclear Myopathy



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

60

Start Date

October 2021

Completion Date

October 2025

Primary Completion Date

October 2025

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.

          -  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.
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

, +33 6 98 75 98 44, [email protected]



Administrative Informations


NCT ID

NCT04977648

Organization ID

NH-CNM-001


Responsible Party

Sponsor

Study Sponsor

Dynacure


Study Sponsor

, , 


Verification Date

July 2021