MedTrace Logo

Global Registry for COL6-related Dystrophies

NCT04020159 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2023-03-22

No results posted yet for this study

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

Interventions

OTHER

Patient Registry

No intervention/treatment

Sponsors & Collaborators

  • Newcastle-upon-Tyne Hospitals NHS Trust

    lead OTHER

Principal Investigators

  • Volker Straub · Newcastle University

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-08-01
Primary Completion
2024-10-31
Completion
2024-10-31

Countries

  • United Kingdom

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04020159 on ClinicalTrials.gov