PROSPAX
Research type
Research Study
Full title
Understanding the progression over time of hereditary spastic paraplegia, ataxia and related conditions (PROSPAX).
IRAS ID
284706
Contact name
Rita Horvath
Contact email
Sponsor organisation
Cambridge University Hospitals
Clinicaltrials.gov Identifier
Duration of Study in the UK
2 years, 11 months, 31 days
Research summary
Hereditary Spastic Paraplegias (HSPs) are a group of genetic movement disorders that share the clinical hallmark of slowly progressive lower limb spasticity and weakness due to degeneration of motor neurones. In complicated forms of HSP patients can have a broad spectrum of additional features, including cognitive impairment, seizures, cerebellar ataxia, dystonia, peripheral neuropathy and more. As a result, diagnosis of HSPs can be very challenging, as they overlap with other rare diseases e.g. hereditary ataxias, leukodystrophies, hereditary movement disorders, Charcot-Marie-Tooth disease, motor neurone diseases, and mitochondrial diseases.
An international collaboration, led by the University of Tübingen, Germany, has therefore been set-up to better understand the clinical appearance and course of HSP related conditions (a 'Natural History Study') and to develop methods to improve the diagnosis and treatment of these disorders.
Individuals that will be invited to take part in the study include: affected individuals (who have a clinical or genetic diagnosis of an HSP/related disorder); unaffected family members (parents or siblings); and unrelated healthy controls. The majority of participants will be enrolled via the HSP outpatient clinics at the partner sites of the TreatHSP and PROSPAX network, and further national and international collaborating sites, including Cambridge University Hospitals NHS Foundation Trust (CUH NHS FT) in the UK.
As part of this study, data from routine treatment will be collected with additional optional study-related examinations including blood and tissue samples, neurophysiological tests, imaging, and questionnaires planned annually. As the study investigates the long-term course of the condition, there is no fixed end of the study; study participants can take part for as long as they wish to or are able to.
REC name
East Midlands - Leicester South Research Ethics Committee
REC reference
20/EM/0217
Date of REC Opinion
28 Oct 2020
REC opinion
Further Information Favourable Opinion