Actively Recruiting
Dentatorubral-pallidoluysian Atrophy Natural History and Biomarkers Study
Led by University College, London · Updated on 2024-05-10
225
Participants Needed
3
Research Sites
204 weeks
Total Duration
On this page
Sponsors
U
University College, London
Lead Sponsor
U
University of North Carolina, Chapel Hill
Collaborating Sponsor
AI-Summary
What this Trial Is About
DRPLA Natural History and Biomarkers Study (DRPLA NHBS) is a prospective observational study that will lay the foundation for clinical trials in DRPLA. The aims of this project are: * 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. * To provide a platform to support the design and conduct of clinical trials. This study has three arms: 1. Adult Participants: this arm of the study will require participants to be 16 years old or over to participate. 2. Pediatric Participants: this arm of the study will require participants to be under 16 years old to participate. 3. Remote Participants: patients that cannot or do not wish to travel to one of the study sites can participate in this arm of the study, irrespective of their age. Participants will have an annual visit for three years (baseline visit and two follow-up visits, three visits in total). Subjects who complete the whole protocol will be assessed on two consecutive days to reduce patient burden. This project will allow for a better understanding of DRPLA and its course, and therefore allow for future clinical trials on this condition to be more precisely and effectively conducted.
CONDITIONS
Official Title
Dentatorubral-pallidoluysian Atrophy Natural History and Biomarkers Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Adult participants must be 16 years old or older at the time of enrollment.
- Adult participants must have a genetic diagnosis of DRPLA with CAG repeat expansion greater than 35.
- Participants must be able to read, understand, and provide written informed consent; if under 18 or unable, a parent or caregiver must provide consent and attend visits.
- Adult pre-symptomatic subjects must have a positive genetic test for DRPLA without symptoms and be 16 years old or older.
- Adult family/community control participants must be 16 years old or older and not have a genetic diagnosis of DRPLA or have unknown genetic status.
- Pediatric participants must be under 16 years old at enrollment.
- Pediatric participants must have a genetic diagnosis of DRPLA with CAG repeat expansion greater than 35.
- Pediatric participants unable to consent must have a parent or caregiver provide consent and attend visits.
- Pediatric family/community control participants must be under 16 years old and not have a genetic diagnosis of DRPLA or have unknown genetic status.
You will not qualify if you...
- Individuals with an ataxia condition other than DRPLA.
- Failure to sign the consent form.
- Any condition or circumstance making the participant unsuitable, including medical conditions affecting biomarker measurement.
- History of severe allergic or anaphylactic reactions to local anesthetics used in the study, excluding participant from lumbar puncture and skin biopsy.
- Family/community controls with neurological conditions other than primary headache disorders.
AI-Screening
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Trial Site Locations
Total: 3 locations
1
NYU Grossman School of Medicine
New York, New York, United States, 10017
Actively Recruiting
2
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States, 27599-7025
Actively Recruiting
3
University College London
London, United Kingdom, WC1N 3BG
Actively Recruiting
Research Team
P
Paola Giunti
CONTACT
H
Hector Garcia-Moreno
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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