Natural History Study of Patients With Centronuclear Myopathies (NatHis-CNM)

A Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Centronuclear Myopathies

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 Overview

• Status: Withdrawn
• Conditions: Centronuclear Myopathy

• Study Type: Observational

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

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

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change from baseline in the Pediatric Quality of Life inventory (PedsQL™).	The PedsQL™ questionnaire will be completed by the caregivers or by subjects based on subject age.	Baseline, Up to 36 months
Change from baseline in the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND).	The ACEND questionnaire will be completed by the caregiver for subjects in the study. Scoring from 1 (needs full time assistance) to 6 (needs no assistance).	Baseline, Up to 36 months
Change from baseline in the (Pediatric) Eating Assessment Tool-10 ([Pedi]-EAT-10).	The (Pedi)-EAT-10 assessment will be completed by the caregiver based on subject age. Scoring from 0 (no problem) to 4 (severe problem).	Baseline, Up to 36 months
Change from baseline in the Meaningful Use of Speech Scale (MUSS).	The MUSS will be scored by trained site personnel based on the caregiver's or subject's reporting. Scoring from 0 (never) to 4 (always).	Baseline, Up to 36 months

Collaborators and Investigators

• Sponsor: Dynacure

Study record dates

Study Major Dates

• Study Start (Anticipated): September 1, 2022
• Primary Completion (Anticipated): March 1, 2026
• Study Completion (Anticipated): March 1, 2026

Study Registration Dates

• First Submitted: May 21, 2021
• First Submitted That Met QC Criteria: July 15, 2021
• First Posted (Actual): July 27, 2021

Study Record Updates

• Last Update Posted (Actual): July 11, 2022
• Last Update Submitted That Met QC Criteria: July 7, 2022
• Last Verified: July 1, 2022

More Information

Terms related to this study

• Keywords: Nervous System Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Muscular Diseases; Myopathies, Structural, Congenital
• Additional Relevant MeSH Terms: Nervous System Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Muscular Diseases; Myopathies, Structural, Congenital
• Other Study ID Numbers: NH-CNM-001

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No