Global Registry for COL6-related Dystrophies

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.

Study Overview

• Status: Recruiting
• 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
• Intervention / Treatment: Other: Patient Registry

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 Type: Observational
• Enrollment (Anticipated): 1000

Contacts and Locations

• Study Contact: Name: Sam McDonald; Phone Number: 01912418605; Email: collagen6registry@newcastle.ac.uk
• Study Contact Backup: Name: Sam McDonald; Email: registries@newcastle.ac.uk

Study Locations

• United Kingdom
  • Newcastle Upon Tyne, United Kingdom
    • Recruiting
    • Newcastle University
    • Contact: Sam McDonald; Phone Number: 0191 2418605; Email: sam.mcdonald@newcastle.ac.uk

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

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

Description

Inclusion Criteria:

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

Exclusion Criteria:

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Participants with COL6-related dystrophy; Participants who have volunteered to participate will complete various questionnaires relating to their condition.	Other: Patient Registry; No intervention/treatment

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Newcastle-upon-Tyne Hospitals NHS Trust
• Investigators: Principal Investigator: Volker Straub, Newcastle University

Study record dates

Study Major Dates

• Study Start (Actual): August 1, 2018
• Primary Completion (Anticipated): October 1, 2024
• Study Completion (Anticipated): October 1, 2024

Study Registration Dates

• First Submitted: June 28, 2019
• First Submitted That Met QC Criteria: July 12, 2019
• First Posted (Actual): July 15, 2019

Study Record Updates

• Last Update Posted (Actual): March 22, 2023
• Last Update Submitted That Met QC Criteria: March 21, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Genetic Diseases, Inborn; Joint Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Sclerosis; Muscular Dystrophies; Muscular Diseases; Contracture
• Other Study ID Numbers: 18/NE/0243; 8451 (The Newcastle upon Tyne Hospitals NHS FT)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No