Investigators

Principal Investigator: Prof Paola Giunti, Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology

Co-investigators:

• Dr Hector Garcia-Moreno (Clinical Research Fellow)
• Miss Ola Volhina (Research Assistant)
  

Background 

This study aims to characterize the natural history of DRPLA in both juvenile- and adult-onset patients and study different modalities of biomarkers in this condition, to identify genetic factors and biomarkers that could predict disease progression, and to provide a platform to support the design and conduct of clinical trials.

Currently, there is no effective treatment for DRPLA. Future clinical trials will require previous data about the natural history of the condition, and valid biomarkers for their use as outcome measures.

This is a UK-wide, 3 year study. The funding for the study is provided by CureDRPLA and grants are administered and awarded by Ataxia UK.

Case Definition

Genetic diagnosis of DRPLA, with CAG repeat expansion >35 repeats in the ATN1 gene. Participants must be 16 years old or over at the time of enrolment, to participate. Patient is able to read, understand, and provide written informed consent (signed and dated). If the patient is unable to provide consent, the patient must have a personal consultee capable of providing assent (signed and dated) and able to attend all scheduled study visits, and provide feedback regarding the participant’s symptoms and performance as described in the protocol. 

Pre-symptomatic subjects must have a positive genetic test for the DRPLA expansion without symptoms compatible with the disease, and be 16 years old or over at the time of enrolment.

Study Methods

Subjects will be assessed in one of the study centres. Exceptionally, researchers can carry out home/virtual visits if requested by the research participants or required for public health reasons. 

The DRPLA NHBS aims to collect natural history information for different clinical features that patients with DRPLA present (e.g. ataxia, choreoathetosis, dementia, cognitive impairment, seizures, myoclonus). MRI sequences and Biosamples will also be taken. 

Reporting instructions