UK register for hereditary spastic paraplegia
Research type
Research Study
Full title
UK register for hereditary spastic paraplegia
IRAS ID
154050
Contact name
Henry Houlden
Contact email
Sponsor organisation
UCL
Research summary
Hereditary spastic paraplegia (HSP) includes a large, clinically and genetically heterogeneous group of inherited neurodegenerative disorders characterised by lower limb weakness and spasticity. HSP is a rare disorder, with a reported worldwide prevalence that varies from 1.2 to 9.6 per 100 000.
HSP represents a public health issue because it is a rare disease and symptoms can be mild with a slow disease progression, leaving many patients undiagnosed. Nonetheless, these patients do need regular follow-up and genetic counselling, and in view of new treatment possibilities it is important to identify them.
Our aim is to build the first UK register for HSP and record clinical and genetic information following a standardised protocol. We will recruit HSP patients across UK (see methods) and we will review and evaluate medical records. Patient will fill in a questionnaire regarding their HSP (gene defect, symptoms, disease history and medications) to combine with genetic results. Where necessary, we will examine patients and where missing, we will perform genetic analysis.
We will store clinical and genetic information for each patient on a central database. This information will allow us to study the correlation between clinical and genetic variables.
In summary, the register will record for the first time clinical and genetic information of the UK HSP patients. The register will allow us to define: 1) the natural history of HSP; 2) HSP genetic epidemiology in the UK, and 3) the current effectiveness of drugs and health services.This Register will further be a unique asset to allow carrying out biomedical studies, including clinical trials. Indeed, given the rarity of the disease, studies and trials will need to be multicentred in order to recruit the appropriate number of individuals.
REC name
London - South East Research Ethics Committee
REC reference
14/LO/1373
Date of REC Opinion
16 Sep 2014
REC opinion
Further Information Favourable Opinion