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.