UK Facioscapulohumeral Muscular Dystrophy Registry
The UK FSHD Patient registry is a database of genetic and clinical information about people affected by FSHD1 and FSHD2 and was established in 2013. This online patient driven registry combines patient reported outcomes with professionally verified genetic information through a secure online portal. The primary aim of the registry is to facilitate and accelerate recruitment into clinical trials and research. The registry is governed by a Steering Committee of clinicians, researchers and patient organisation representatives and receives funding and support from Muscular Dystrophy UK.
The registry has successfully assisted researchers in planning and carrying out research. As part of the TREAT-NMD network the registry shares a core dataset with many national registries globally.
Adults and children with FSHD confirmed by a genetic test who live in the UK join the UK FSHD Patient registry. People affected by FSHD can register online and create an account so that they can view and update their information at any time. If a person is under 18, a parent or guardian must create an account on their behalf. You will be asked to provide personal details an information about your FSHD and how it affects you. In addition a number of questionnaires looking at pain and quality of life are also available to complete. You will also be asked to provide detailed of the consultant (neuromuscular specialist) in charge of your care.
You can register online at www.fshd-registry.org/uk or you can request a paper form by calling he number below.
For Researchers (academic and commercial)
The Registry supports and encourages applications from researchers working to improve knowledge, understanding, care and treatment of FSHD. Research which may benefit from interactions with the registry includes but is not limited to:
- Clinical research that will improve standards of care and best practices
- Scientific research that increases understanding of disease mechanism and pathology
- Epidemiological studies to better understand the prevalence and progression of the condition.
- Clinical trials of new therapies and treatments.
The registry is a flexible research tool and can facilitate and accelerate research in a number of ways:
- Feasibility enquiries which provide non identifiable aggregate data to help you plan and carry out your research, e.g. the number of patients with a specific symptom or from a specific region.
- Facilitating the recruitment process, the registry can directly contact patients fitting specific criteria to provide information about participating in your research.
- Providing services to conduct research including disseminating, collecting and analysing research questionnaires.
It is important to note that the Registry releases de-identified data only; patient identifiable data will never be released to a researcher, company or other third party.
If you are interested in using the registry using the details below as soon as possible to discuss further how the interaction could be best used to aide your research. Early contact will ensure that all approvals are met and all costs are negotiated.
T: +44 (0) 191 241 8604