Global Registry for COL6-related Dystrophies

NCT04020159 | Unknown

• 2 other identifiers: 18/NE/02438451
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief 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. 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.

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; BTHLM1

Outcome Measures

Primary Outcomes (2)

• Patient questionnaire

  Patient reported genetic diagnosis, motor and respiratory function, contractures, pain, unplanned admissions, and quality of life updated annually.

  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.

  12 months

Study Arms (1)

Participants with COL6-related dystrophy

Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Other: Patient Registry

Interventions

Patient Registry OTHER

No intervention/treatment

Participants with COL6-related dystrophy

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Self-referring individuals with a confirmed diagnosis of a COL6-related dystrophy.

You may qualify if:

• confirmed diagnosis of a COL6-related dystrophy (Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD), or an intermediate form of these conditions.

You may not qualify if:

• absence of a diagnosis of COL6-related dystrophy
• Bethlem Myopathy Type 2, Ullrich Congenital Muscular Dystrophy 2 and other COL12-related conditions

Sponsors & Collaborators

• Newcastle-upon-Tyne Hospitals NHS Trust: lead

Study Sites (1)

Newcastle University

Newcastle upon Tyne, United Kingdom

RECRUITING

MeSH Terms

Conditions

Bethlem myopathy; Scleroatonic muscular dystrophy; Multiple Pterygium Syndrome, Autosomal Dominant

Study Officials

• Volker Straub

  Newcastle University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Sam McDonald

CONTACT

01912418605; collagen6registry@newcastle.ac.uk

Sam McDonald

CONTACT

registries@newcastle.ac.uk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 28, 2019
• First Posted: July 15, 2019
• Study Start: August 1, 2018
• Primary Completion: October 1, 2024
• Study Completion: October 1, 2024
• Last Updated: March 22, 2023

Record last verified: 2023-03

Locations

GB (1)