Centronuclear MyopathyNatHis-CNMNCT04977648
Natural History Study of Patients With Centronuclear Myopathies
An observational study of Centronuclear Myopathy, run by Dynacure.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 months and older
- Conditions the study is for
- Centronuclear Myopathy
- How many people
- 0 participants
- Where
- No sites listed yet
- Study dates
- Sep 2022to Mar 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients of all ages (newborns included) with a CNM resulting from mutations in DNM2 or MTM1.
Who may be able to join
- 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.
Who cannot join
- 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.
About this study
Official title: 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.
- Conditions
- Centronuclear Myopathy
- Keywords
- Muscular Diseases, Myopathies, Structural, Congenital, Musculoskeletal Diseases, Neuromuscular Diseases, Nervous System Diseases
- Medical subject headings
- Myopathies, Structural, Congenital, Muscular Diseases, Musculoskeletal Diseases, Neuromuscular Diseases, Nervous System Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 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.
Measured: 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.
Measured: Baseline, Up to 36 months
Secondary outcomes (4)
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.
Measured: 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).
Measured: 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).
Measured: 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).
Measured: Baseline, Up to 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jul 2021
- Study startSep 2022 (estimated)
- Primary completionMar 2026 (estimated)
- Study completionMar 2026 (estimated)
Why it stopped: The first Clinical trial with DYN101 (UNITE-CNM) was early terminated. As a consequence, Dynacure decided to not perform this study.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Centronuclear MyopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Dynacure
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04977648
- Sponsor's protocol ID
- NH-CNM-001
- Acronym
- NatHis-CNM
- Status last verified
- Jul 2022
- First submitted
- 21 May 2021
- Last updated
- 11 Jul 2022
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Jul 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Centronuclear Myopathies
- ClinicalTrials.gov ID
- NCT04977648
- Acronym / sponsor ID
- NatHis-CNM / NH-CNM-001
- Conditions
- Centronuclear Myopathy
- Keywords
- Muscular Diseases, Myopathies, Structural, Congenital, Musculoskeletal Diseases, Neuromuscular Diseases, Nervous System Diseases
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: The first Clinical trial with DYN101 (UNITE-CNM) was early terminated. As a consequence, Dynacure decided to not perform this study.
- Enrolment
- 0 participants (actual)
- Lead sponsor
- DynacureIndustry (pharma, biotech, devices)
- Study start
- Sep 2022 (estimated)
- Primary completion
- Mar 2026 (estimated)
- Study completion
- Mar 2026 (estimated)
- First posted
- 27 Jul 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 0 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients of all ages (newborns included) with a CNM resulting from mutations in DNM2 or MTM1.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (5 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change from baseline in the Motor Function Measure (MFM32) for neuromuscular diseases.
Time frame: Baseline, Up to 36 months
The MFM32 assessment will be based on subject age. Scoring from 0 (cannot initiate the task) to 3 (performs the task fully).
Change from baseline in the Peak Inspiratory Pressure (PIP).
Time frame: Baseline, Up to 36 months
The PIP assessment will be based on subject age and ventilation status. Results will be expressed in cmH2O.
Change from baseline in the in Peak Expiratory Pressure (PEP).
Time frame: Baseline, Up to 36 months
The PEP assessment will be based on subject age and ventilation status. Results will be expressed in cmH2O.
4 secondary outcomes
Change from baseline in the Pediatric Quality of Life inventory (PedsQL™).
Time frame: Baseline, Up to 36 months
Change from baseline in the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND).
Time frame: Baseline, Up to 36 months
Change from baseline in the (Pediatric) Eating Assessment Tool-10 ([Pedi]-EAT-10).
Time frame: Baseline, Up to 36 months
Change from baseline in the Meaningful Use of Speech Scale (MUSS).
Time frame: Baseline, Up to 36 months
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Jul 2022.
- Individual participant dataSharing planned: No
Related trials for Centronuclear Myopathy
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
Not yet recruitingPhase 1/2
A Long-term Follow-up Study in Male Participants With X-linked Myotubular Myopathy Treated With ASP2957
X-linked Myotubular Myopathy
RecruitingObservational study
A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
X-Linked Myotubular Myopathy
RecruitingPhase 1/2
Study of ASP2957 in Male Participants With X-linked Myotubular Myopathy Who Need Ventilators
X-Linked Myotubular Myopathy
Active, not recruitingPhase 2/3
A Study of AT132 in Young Children With X-Linked Myotubular Myopathy (XLMTM)
X-Linked Myotubular Myopathy
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Centronuclear Myopathy, run by Dynacure.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: withdrawn, as of the sponsor's last update on 11 Jul 2022. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change from baseline in the Motor Function Measure (MFM32) for neuromuscular diseases. (time frame: Baseline, Up to 36 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Jul 2022.