Myotubular MyopathyNCT04064307
Myotubular and Centronuclear Myopathy Patient Registry
An observational study of Myotubular Myopathy and Myotubular Myopathy 1, run by Newcastle-upon-Tyne Hospitals NHS Trust at 1 site in United Kingdom.
Trial summary
The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions. More details and online registration are available at www.mtmcnmregistry.org. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Myotubular Myopathy, Myotubular Myopathy 1, Myotubular (Centronuclear) Myopathy
- How many people
- 500 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 26 Mar 2013to May 2025
- How long will I take part?
- 1 Year
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Eligible participants from any country. Registration is voluntary, and initiated by participants.
Who may be able to join
- Patients with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy.
- Any carrier females of x-linked myotubular myopathy, especially if they have manifested myotubular myopathy type symptoms.
- Any patient who is deceased, but who had a confirmed diagnosis.
Who cannot join
- None
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United Kingdom1 site, 1 recruiting
- Recruiting
Newcastle University
Newcastle upon Tyne, Tyne and Wear, NE1 3BZ
Jo Bullivant, 0044 191 241 8640, joanne.bullivant@newcastle.ac.uk
Chiara Marini Bettolo
About this study
The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions.
More details and online registration are available at www.mtmcnmregistry.org.
Read the detailed description
The Myotubular and Centronuclear Myopathy (MTM \& CNM) Patient Registry is managed and operated by the John Walton Muscular Dystrophy Research Centre at Newcastle University, in partnership with the Myotubular Trust, and is part of the TREAT-NMD Neuromuscular Network. The registry has been developed in partnership with a number of leading neuromuscular researchers, and is jointly funded by the Myotubular Trust, Muscular Dystrophy UK and Astellas Gene Therapies.
Participants register online and must provide consent before accessing the registry questionnaire. The clinical data and genetic or biopsy reports are provided by the participants and their doctors.
The MTM \& CNM Registry aims to:
- Help identify patients for relevant clinical trials as they become available.
- Encourage further research into myotubular and centronuclear myopathy.
- Provide researchers with specific patient information to support their research.
- Assist doctors and other health professionals by providing them with up-to-date information on managing myotubular and centronuclear myopathy, to help them deliver better standards of care for their patients.
The investigators welcome the registration of:
- All patients with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy.
- Any carrier females of x-linked myotubular myopathy, especially if they have manifested myotubular myopathy type symptoms.
- Any patient who is deceased, but who had a confirmed diagnosis.
This is an online registry and is hosted on the RDRF (Rare Disease Registry Framework) by Murdoch University.
More details and online registration are available at www.mtmcnmregistry.org.
- Conditions
- Myotubular Myopathy, Myotubular Myopathy 1, Myotubular (Centronuclear) Myopathy, Centronuclear Myopathy, Centronuclear Myopathy, X-Linked, X-linked Myotubular Myopathy
- Keywords
- Registry, Patient Registry, Myotubular, Centronuclear, Myopathy
- Medical subject headings
- Myopathies, Structural, Congenital, Muscular Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Patient questionnaire
Patient reported clinical diagnosis, genetic mutation, motor function, wheelchair use, respiratory function, ventilation type, chest infection, feeding and heart function, neuromuscular examinations, scoliosis surgery, family history and other registries joined. No scales are collected. Patient genetic report and muscle biopsy report are also uploaded to the registry if available, with details of clinician and where the tests were conducted.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Aug 2019
- Study start26 Mar 2013
- Primary completionMay 2025 (estimated)
- Study completionMay 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myotubular 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
- Target duration
- 1 Year
Sponsor and investigators
- Lead sponsor
- Newcastle-upon-Tyne Hospitals NHS Trust
- Sponsor type
- University, hospital or other
- Collaborators
- Myotubular Trust, Muscular Dystrophy UK, Astellas Gene Therapies, Astellas Pharma Inc
- Responsible party
- Principal investigator, Chiara Marini Bettolo, Newcastle-upon-Tyne Hospitals NHS Trust
- Investigators
- Chiara Marini Bettolo, Principal investigator, Newcastle-upon-Tyne Hospitals NHS Trust
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04064307
- Sponsor's protocol ID
- NUTH 7729
- Status last verified
- Apr 2025
- First submitted
- 6 Mar 2018
- Last updated
- 9 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Myotubular and Centronuclear Myopathy Patient Registry
- ClinicalTrials.gov ID
- NCT04064307
- Acronym / sponsor ID
- NUTH 7729
- Conditions
- Myotubular Myopathy, Myotubular Myopathy 1, Myotubular (Centronuclear) Myopathy, Centronuclear Myopathy, Centronuclear Myopathy, X-Linked, X-linked Myotubular Myopathy
- Keywords
- Registry, Patient Registry, Myotubular, Centronuclear, Myopathy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- Newcastle-upon-Tyne Hospitals NHS TrustUniversity, hospital or other
- Collaborators
- Myotubular Trust, Muscular Dystrophy UK, Astellas Gene Therapies, Astellas Pharma Inc
- Study start
- 26 Mar 2013 (actual)
- Primary completion
- May 2025 (estimated)
- Study completion
- May 2025 (estimated)
- First posted
- 21 Aug 2019 (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.
The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions.
More details and online registration are available at www.mtmcnmregistry.org.
Detailed description
The Myotubular and Centronuclear Myopathy (MTM \& CNM) Patient Registry is managed and operated by the John Walton Muscular Dystrophy Research Centre at Newcastle University, in partnership with the Myotubular Trust, and is part of the TREAT-NMD Neuromuscular Network. The registry has been developed in partnership with a number of leading neuromuscular researchers, and is jointly funded by the Myotubular Trust, Muscular Dystrophy UK and Astellas Gene Therapies.
Participants register online and must provide consent before accessing the registry questionnaire. The clinical data and genetic or biopsy reports are provided by the participants and their doctors.
The MTM \& CNM Registry aims to:
- Help identify patients for relevant clinical trials as they become available.
- Encourage further research into myotubular and centronuclear myopathy.
- Provide researchers with specific patient information to support their research.
- Assist doctors and other health professionals by providing them with up-to-date information on managing myotubular and centronuclear myopathy, to help them deliver better standards of care for their patients.
The investigators welcome the registration of:
- All patients with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy.
- Any carrier females of x-linked myotubular myopathy, especially if they have manifested myotubular myopathy type symptoms.
- Any patient who is deceased, but who had a confirmed diagnosis.
This is an online registry and is hosted on the RDRF (Rare Disease Registry Framework) by Murdoch University.
More details and online registration are available at www.mtmcnmregistry.org.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Target follow-up
- 1 Year
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Eligible participants from any country. Registration is voluntary, and initiated by participants.
Key inclusion criteria (3 listed)
- Patients with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy.
- Any carrier females of x-linked myotubular myopathy, especially if they have manifested myotubular myopathy type symptoms.
- Any patient who is deceased, but who had a confirmed diagnosis.
Key exclusion criteria (1 listed)
- None
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
Patient questionnaire
Time frame: 12 months
Patient reported clinical diagnosis, genetic mutation, motor function, wheelchair use, respiratory function, ventilation type, chest infection, feeding and heart function, neuromuscular examinations, scoliosis surgery, family history and other registries joined. No scales are collected. Patient genetic report and muscle biopsy report are also uploaded to the registry if available, with details of clinician and where the tests were conducted.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Apr 2025.
Related trials for Myotubular 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.
Chiara Marini Bettolo principal investigator
Newcastle-upon-Tyne Hospitals NHS Trust
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myotubular Myopathy and Myotubular Myopathy 1, run by Newcastle-upon-Tyne Hospitals NHS Trust at 1 site in United Kingdom.
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 1 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: looking for participants now, as of the sponsor's last update on 9 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Julie Bohill (0044 191 241 8640, julie.bohill@newcastle.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Patient questionnaire (time frame: 12 months). 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 9 Apr 2025.