WithdrawnNCT04977648NatHis-CNMUpdated Jul 11, 2022

Natural History Study of Patients With Centronuclear Myopathies

An observational study in Centronuclear Myopathy, sponsored by Dynacure. Withdrawn. Open to participants aged 0 Months and older. Per ClinicalTrials.gov, last updated 2022-07-11.

Sponsored by Dynacure · Observational

Why this study was withdrawn

The first Clinical trial with DYN101 (UNITE-CNM) was early terminated. As a consequence, Dynacure decided to not perform this study.

Study type: Observational
Model: Cohort
Time perspective: Prospective
Enrollment: 0
Ages: 0 Months and older
Sex: All

Study 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 studied

Centronuclear Myopathy

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Keywords

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

In context

Muscular Diseases

280 studies on the registry are indexed under Muscular Diseases; 63 are open to participants now.

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Lead sponsor

Dynacure is the lead sponsor of 3 studies on the registry; none are open to participants now.

Counted across the registry records on this site, refreshed daily.

Who can participate

Ages eligible: 0 Months and older
Sexes eligible: All
Accepts healthy volunteers: No
Sampling method: Non-probability sample

Study population

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

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.
1. 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.
1. Willing and able to comply with all protocol requirements and procedures.

Exclusion criteria

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.
1. Currently undergoing or has undergone previous gene therapy or other therapy for CNM.
1. 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.
1. 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).
1. 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 design

Observational model: Cohort
Time perspective: Prospective
Enrollment: 0 participants (actual)
Patient registry: No
Biospecimen retention: Samples with dna

What researchers measure

Primary outcomes

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).
Time frame: 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.
Time frame: 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.
Time frame: Baseline, Up to 36 months

Secondary outcomes

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.
Time frame: 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).
Time frame: 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).
Time frame: 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).
Time frame: Baseline, Up to 36 months

Study locations

No study locations are listed for this record.

References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

Updates

Tracking since Sep 25, 2026

No changes since tracking began. The registry record was last updated on Jul 11, 2022, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗

Registry details

Key details

Study ID: NCT04977648
Lead sponsor: Dynacure
Responsible party: Sponsor
First posted: Jul 27, 2021
Start date: Sep 2022 (estimated)
Primary completion: Mar 2026 (estimated)
Completion: Mar 2026 (estimated)
Last update: Jul 11, 2022

Oversight

FDA-regulated drug: No
FDA-regulated device: No

View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is withdrawn, as verified in Jul 2022. You cannot join it, but the record below documents what was studied.

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Discussion

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