UK FSHD Patient Registry
Research type
Research Database
Full title
United Kingdom National Registry for Facioscapulohumeral Muscular Dyst
IRAS ID
121234
Contact name
Chiara Marini Bettolo
Contact email
Research summary
United Kingdom National Registry for Facioscapulohumeral Muscular Dystrophy
REC name
North East - Newcastle & North Tyneside 1 Research Ethics Committee
REC reference
13/NE/0048
Date of REC Opinion
19 Feb 2013
REC opinion
Favourable Opinion
Data collection arrangements
The data to be stored is identical to the internationally agreed FSHD registry dataset as it is anticipated the United Kingdom registry will link anonymously into the International Registry when established
The data is divided into two main sections, the ‘mandatory questions’ including demographic information, genetic diagnosis, clinical diagnosis, current mobility and wheelchair use. Along with further ‘highly encouraged questions’ which focus on family history, pulmonary condition and other more specific aspects of the condition. The participant will nominate a neuromuscular specialist in charge of their care to confirm the genetic and clinical details required.This data will be entered through an online portal and will be initiated by the data subject.
Research programme
The Neuromuscular research community will be supported directly by this database through its link to TREAT-NMD. The TREAT-NMD Alliance brings together researchers, clinicians, patient organisations and industry on a global level to help improve treatments and standards of care for all rare neuromuscular disorders. This database will be a step towards a global FSHD database and help move towards the Alliances goal of global trial readiness. The FSHD research community within the TREAT-NMD Alliance is beginning to develop as the genetics of the disease are better understood, making this database an important tool for their FSHD research community as a whole. On a wider scale the database will support the rare disease community and the International Rare Diseases Research Consortium's (IRDiRC) goals to help identify and treat the majority of rare diseases by 2020.
Research database title
United Kingdom National Registry for Facioscapulohumeral Muscular Dystrophy
Establishment organisation
Newcastle Univeristy
Establishment organisation address
Framlington Place
Newcastle upon Tyne
NE2 4HH