Bethlem MyopathyNCT04020159
Global Registry for COL6-related Dystrophies
An observational study of Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy 1, Digenic, Col6A1/Col6A2, run by Newcastle-upon-Tyne Hospitals NHS Trust at 1 site in United Kingdom.
Trial summary
The Global Registry for COL6-related dystrophies (www.collagen6.org) is a database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of these diseases. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy 1, Digenic, Col6A1/Col6A2, Ullrich Congenital Muscular Dystrophy 1, Autosomal Recessive
- What is being tested?
- Patient Registry
- How many people
- 1,000 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 1 Aug 2018to Oct 2024
- How long will I take part?
- 5 Years
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Self-referring individuals with a confirmed diagnosis of a COL6-related dystrophy.
Who may be able to join
- confirmed diagnosis of a COL6-related dystrophy (Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD), or an intermediate form of these conditions.
Who cannot join
- absence of a diagnosis of COL6-related dystrophy
- Bethlem Myopathy Type 2, Ullrich Congenital Muscular Dystrophy 2 and other COL12-related conditions
Trial locations and contacts
1 site in 1 country.
Sam McDonald contact
United Kingdom1 site, 1 recruiting
- Recruiting
Newcastle University
Newcastle upon Tyne
Sam McDonald, 0191 2418605, sam.mcdonald@newcastle.ac.uk
About this study
The Global Registry for COL6-related dystrophies (www.collagen6.org) is a database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of these diseases. The registry team is based at the John Walton Muscular Dystrophy Research Centre at Newcastle University, UK and is part of the TREAT-NMD alliance global network of registries. The registry has been developed in partnership with a number of leading neuromuscular researchers and is funded by the Collagen VI Alliance.
This patient registry will:
Read more
- Help identify patients for relevant clinical trials as they become available
- Encourage further research into Collagen 6-related dystrophies
- 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 Collagen 6- related dystrophies, to help them deliver better standards of care for their patients
The investigators welcome the registration of:
✓ All patients, with a diagnosis of a COL6-related dystrophy (Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy or Intermediate form) , which has been confirmed via genetic testing or muscle biopsy.
Read the detailed description
The Global Registry for COL6-related dystrophies (www.collagen6.org) is an international registry for patients with a COL6-related condition; no experimental intervention is involved. Patients will receive information on the most up to date standards of care relating to their disease and may be invited to participate in relevant clinical trials. Their data will be updated annually and stored indefinitely, or until they request their data to be removed.
The data will be collected via a secure online form and stored on a secure server. Data collected from patients will include demographic information, diagnosis, current condition (wheelchair use and motor ability, respiratory function, contractures and scoliosis), family history and quality of life. Further information collected from patients' doctors will include genetics, age of onset, lung function, medication, muscle strength, contractures and muscle MRI findings.
One of the purposes of the Global Registry for COL6-related dystrophies is to define the patient population and disease course, therefore data is collected longitudinally and participants will be invited to update their records on a yearly basis.
Access to the database is limited to named individuals, approved by the Principal Investigator, Professor Volker Straub, and the database curator. The database is password protected, with different levels of access. All database entries and contacts are traceable through an audit trail. A SOP has been formulated to cover administration, management and communication procedures for the database.
Researchers and Industry may ask specific questions of registry data. These questions may be to support academic research, feasibility studies for clinical trials or recruitment for clinical trials. Any enquiries for data will be examined and approved by the registry steering committee. Data released for approved enquiries would be de-identified aggregate data. In the case of recruitment for clinical trials when the registry principle investigator and/or curator believe that a patient meets a trial's inclusion criterion and might benefit from participation in a trial, the patient will be contacted by the curator with general information about the upcoming trial and will be asked to contact their local trial/study centre for more information if they are interested in participating. The patient's name or any other personal information will not be given to researchers or industry. Clinical trials will need to have appropriate IRB/ethics board and steering committee approval although the registry will not endorse any particular trial.
Registry participation in voluntary and participants may decline to participate or withdraw consent for their data to be stored in the Global Registry for COL6-related dystrophies at any time without prejudice.
The protocol, patient information sheets and consent forms, and relevant supporting information has been reviewed and approved by NHS HRA Research Ethics Committee and Newcastle University ethics committee.
- Conditions
- Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy 1, Digenic, Col6A1/Col6A2, Ullrich Congenital Muscular Dystrophy 1, Autosomal Recessive, Ullrich Congenital Muscular Dystrophy 1, Autosomal Dominant, Bethlem Myopathy 1, Autosomal Recessive, UCMD
- Being tested
- Patient Registry
- Medical subject headings
- Bethlem myopathy, Scleroatonic muscular dystrophy, Multiple Pterygium Syndrome, Autosomal Dominant
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Patient RegistryOther
No intervention/treatment
| Study group | Role | What they receive |
|---|---|---|
| Participants with COL6-related dystrophy | Participants who have volunteered to participate will complete various questionnaires relating to their condition. Receives: Other: Patient Registry |
What is being measured
The primary outcome is the main question the study is designed to answer.
Patient questionnaire
Patient reported genetic diagnosis, motor and respiratory function, contractures, pain, unplanned admissions, and quality of life updated annually.
Measured: 12 months
Clinician questionnaire
Clinician reported details of current medical condition (ambulatory status, medications, comorbidities) and medical history (first presenting symptoms, age at diagnosis, diagnosis (genetic, MRI and muscle biopsy findings)), updated annually.
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 posted15 Jul 2019
- Study start1 Aug 2018
- Primary completionOct 2024 (estimated)
- Study completionOct 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Bethlem 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
- 1,000 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Newcastle-upon-Tyne Hospitals NHS Trust
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Volker Straub, Principal investigator, Newcastle University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04020159
- Sponsor's protocol ID
- 18/NE/0243
- Other IDs
- 8451
- Status last verified
- Mar 2023
- First submitted
- 28 Jun 2019
- Last updated
- 22 Mar 2023
- 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 22 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Global Registry for COL6-related Dystrophies
- ClinicalTrials.gov ID
- NCT04020159
- Acronym / sponsor ID
- 18/NE/0243
- Conditions
- Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy 1, Digenic, Col6A1/Col6A2, Ullrich Congenital Muscular Dystrophy 1, Autosomal Recessive, Ullrich Congenital Muscular Dystrophy 1, Autosomal Dominant, Bethlem Myopathy 1, Autosomal Recessive, UCMD
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Newcastle-upon-Tyne Hospitals NHS TrustUniversity, hospital or other
- Study start
- 1 Aug 2018 (actual)
- Primary completion
- Oct 2024 (estimated)
- Study completion
- Oct 2024 (estimated)
- First posted
- 15 Jul 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 Global Registry for COL6-related dystrophies (www.collagen6.org) is a database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of these diseases. The registry team is based at the John Walton Muscular Dystrophy Research Centre at Newcastle University, UK and is part of the TREAT-NMD alliance global network of registries. The registry has been developed in partnership with a number of leading neuromuscular researchers and is funded by the Collagen VI Alliance.
This patient registry will:
- Help identify patients for relevant clinical trials as they become available
- Encourage further research into Collagen 6-related dystrophies
- 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 Collagen 6- related dystrophies, to help them deliver better standards of care for their patients
The investigators welcome the registration of:
✓ All patients, with a diagnosis of a COL6-related dystrophy (Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy or Intermediate form) , which has been confirmed via genetic testing or muscle biopsy.
Detailed description
The Global Registry for COL6-related dystrophies (www.collagen6.org) is an international registry for patients with a COL6-related condition; no experimental intervention is involved. Patients will receive information on the most up to date standards of care relating to their disease and may be invited to participate in relevant clinical trials. Their data will be updated annually and stored indefinitely, or until they request their data to be removed.
The data will be collected via a secure online form and stored on a secure server. Data collected from patients will include demographic information, diagnosis, current condition (wheelchair use and motor ability, respiratory function, contractures and scoliosis), family history and quality of life. Further information collected from patients' doctors will include genetics, age of onset, lung function, medication, muscle strength, contractures and muscle MRI findings.
One of the purposes of the Global Registry for COL6-related dystrophies is to define the patient population and disease course, therefore data is collected longitudinally and participants will be invited to update their records on a yearly basis.
Access to the database is limited to named individuals, approved by the Principal Investigator, Professor Volker Straub, and the database curator. The database is password protected, with different levels of access. All database entries and contacts are traceable through an audit trail. A SOP has been formulated to cover administration, management and communication procedures for the database.
Researchers and Industry may ask specific questions of registry data. These questions may be to support academic research, feasibility studies for clinical trials or recruitment for clinical trials. Any enquiries for data will be examined and approved by the registry steering committee. Data released for approved enquiries would be de-identified aggregate data. In the case of recruitment for clinical trials when the registry principle investigator and/or curator believe that a patient meets a trial's inclusion criterion and might benefit from participation in a trial, the patient will be contacted by the curator with general information about the upcoming trial and will be asked to contact their local trial/study centre for more information if they are interested in participating. The patient's name or any other personal information will not be given to researchers or industry. Clinical trials will need to have appropriate IRB/ethics board and steering committee approval although the registry will not endorse any particular trial.
Registry participation in voluntary and participants may decline to participate or withdraw consent for their data to be stored in the Global Registry for COL6-related dystrophies at any time without prejudice.
The protocol, patient information sheets and consent forms, and relevant supporting information has been reviewed and approved by NHS HRA Research Ethics Committee and Newcastle University ethics committee.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with COL6-related dystrophy | – | Other: Patient RegistryParticipants who have volunteered to participate will complete various questionnaires relating to their condition. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Self-referring individuals with a confirmed diagnosis of a COL6-related dystrophy.
Key inclusion criteria (1 listed)
- confirmed diagnosis of a COL6-related dystrophy (Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD), or an intermediate form of these conditions.
Key exclusion criteria (2 listed)
- absence of a diagnosis of COL6-related dystrophy
- Bethlem Myopathy Type 2, Ullrich Congenital Muscular Dystrophy 2 and other COL12-related conditions
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Patient RegistryNo intervention/treatment | Other | Participants with COL6-related dystrophy |
Primary outcome
Patient questionnaire
Time frame: 12 months
Patient reported genetic diagnosis, motor and respiratory function, contractures, pain, unplanned admissions, and quality of life updated annually.
Clinician questionnaire
Time frame: 12 months
Clinician reported details of current medical condition (ambulatory status, medications, comorbidities) and medical history (first presenting symptoms, age at diagnosis, diagnosis (genetic, MRI and muscle biopsy findings)), updated annually.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Mar 2023.
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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.
Sam McDonald contact
Volker Straub principal investigator
Newcastle University
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 Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy 1, Digenic, Col6A1/Col6A2, 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 1 inclusion and 2 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: status not confirmed, as of the sponsor's last update on 22 Mar 2023. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Sam McDonald (01912418605, collagen6registry@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). The study lists 2 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 22 Mar 2023.