Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
1000 participants
OBSERVATIONAL
2018-08-01
2024-10-31
Brief Summary
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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.
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Detailed Description
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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
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Participants with COL6-related dystrophy
Participants who have volunteered to participate will complete various questionnaires relating to their condition.
Patient Registry
No intervention/treatment
Interventions
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Patient Registry
No intervention/treatment
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
* Bethlem Myopathy Type 2, Ullrich Congenital Muscular Dystrophy 2 and other COL12-related conditions
ALL
No
Sponsors
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Newcastle-upon-Tyne Hospitals NHS Trust
OTHER
Responsible Party
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Principal Investigators
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Volker Straub
Role: PRINCIPAL_INVESTIGATOR
Newcastle University
Locations
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Newcastle University
Newcastle upon Tyne, , United Kingdom
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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8451
Identifier Type: OTHER
Identifier Source: secondary_id
18/NE/0243
Identifier Type: -
Identifier Source: org_study_id
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