DRPLA Natural History and Biomarkers Study (DRPLA NHBS), v1.0, 26/4/21
Research type
Research Study
Full title
Dentatorubral-pallidoluysian atrophy Natural History and Biomarkers Study (DRPLA NHBS)
IRAS ID
300016
Contact name
Paola Giunti
Contact email
Sponsor organisation
University College London
Clinicaltrials.gov Identifier
Z6364106/2021/06/152, Data Protection Reference Number
Duration of Study in the UK
2 years, 11 months, 31 days
Research summary
Dentatorubral-pallidoluysian atrophy (DRPLA) is a type of autosomal dominant cerebellar ataxia characterised by the presence of a cerebellar syndrome, myoclonus, epilepsy and cognitive impairment. This project has three main objectives. Firstly, we will recruit and follow a group of patients with DRPLA to describe the natural course of the condition (natural history). This is fundamental before planning clinical trials, since this information usually helps in calculation of sample size, selection of study variables/methodology, stratification of patients and/or selection of patient subgroups. Secondly, we will study a comprehensive set of biomarkers. A biomarker is a certain characteristic in a subject that can be quantified and that provides information about multiple aspects of a disease. Due to their properties to inform about a disease process and the fact that they can be measured, biomarkers are indispensable tools in clinical trials. We will use different clinical scales and performance tests to rate different symptoms of the condition. We will study genetic biomarker and protein biomarkers in blood, CSF, saliva, urine and feces. We will also perform brain MRI to identify changes in the appearances of the brain that can reflect the deterioration of the patient. In addition, we will perform neuropsychological tests since patients with DPRLA normally present with problems in cognition (the set of intellectual abilities). We will administer different scales for characterization of the epilepsy in these patients.
Finally, we would like to integrate all this information to try to understand how the condition progresses and which tools will be useful in future collaborative international studies and multicentric clinical trials.REC name
London - Harrow Research Ethics Committee
REC reference
22/LO/0246
Date of REC Opinion
14 Jun 2022
REC opinion
Further Information Favourable Opinion