Dentatorubral-Pallidoluysian Atrophy Natural History and Biomarkers Study
This is an observational study for people with Dentatorubral-Pallidoluysian Atrophy (DRPLA), a genetic condition. The study aims to understand how DRPLA progresses in both children and adults, and to find biological markers (biomarkers) that could help predict how the disease will change over time. You can join if you have a genetic diagnosis of DRPLA with a specific genetic change (CAG repeat expansion >35) and are able to give informed consent. The study will look at your ataxia (problems with coordination), brain changes, and a specific protein in your blood (neurofilament plasma concentration) over three years to see how these relate to DRPLA progression. The goal is to gather information that will help design future clinical trials for DRPLA.
- Study design
- This is an observational study with a planned enrollment of 225 participants. It is not testing a new treatment but rather observing the natural course of the disease.
- What's involved
- Not specified in the trial record.
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed for at least 3 years, as primary endpoints are measured at this time point.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Dentatorubral-pallidoluysian Atrophy Natural History and Biomarkers Study
At a glance
Conditions
NCT06273150
Where you'd take part
This study runs at 3 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
NYU Grossman School of Medicine
New York, New Yorkstudy coordinator listed
Recruiting
University College London
London, United Kingdomstudy coordinator listed
Recruiting
University of North Carolina at Chapel Hill
Chapel Hill, North Carolinastudy coordinator listed
Recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Study leadership
- Paola Giunti · PRINCIPAL_INVESTIGATOR · University College, London
Who to contact
Opens a ready-to-send draft in your own email app — review before sending.
What this trial measures
- Scale for the assessment and rating of ataxia (SARA)3 years
Progression of ataxia is measured using a validated ataxia scale, SARA. Scores range from 0 (no ataxia) to 40 (most severe ataxia).
- Brain atrophy3 years
Brain MRI is used to measure atrophy. Atrophy is expected to be observed in DRPLA patients, and in particular in the brainstem, superior cerebellar peduncle, cerebellum and thalamus.
- Neurofilament plasma concentration (NfL)3 years
Blood and CSF samples will be measured for NfL, a brain-derived protein.