Dentatorubral-pallidoluysian Atrophy Natural History and Biomarkers Study
- Conditions
- Dentatorubral-Pallidoluysian Atrophy
- Interventions
- Other: Positive genetic test for pathological expansion in ATN1
- Registration Number
- NCT06273150
- Lead Sponsor
- University College, London
- Brief Summary
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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 225
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Volunteer control Positive genetic test for pathological expansion in ATN1 Subjects without neurological conditions (other than primary headache disorders), without a family history of DRPLA or a previous negative genetic test for pathological expansions in the ATN1 gene. DRPLA-mutation carrier Positive genetic test for pathological expansion in ATN1 Subjects with a positive genetic test for a pathological expansion in the ATN1 gene.
- Primary Outcome Measures
Name Time Method Brain atrophy 3 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.
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).
- Secondary Outcome Measures
Name Time Method Ubiquitin carboxyterminal hydrolase L1 (UCH-L1) concentration 3 years Blood and CSF samples will be measured for UCH-L1, a brain-derived protein.
Inventory of non-ataxia signs (INAS) 3 years The occurrence of accompanying non-ataxia symptoms is assessed using INAS.
Tau plasma concentration 3 years Blood and CSF samples will be measured for Tau, a brain-derived protein.
Glial fibrillary acidic protein (GFAP) concentration 3 years Blood and CSF samples will be measured for GFAP, a brain-derived protein.
Upper limb function test AIM-S 3 years Hand dexterity and upper limb function is assessed using the AIM-S spoon test.
Clinical Assessment of Dysphagia in Neurodegeneration (CADN) 3 years Dysphagia is assessed using the CADN, an assessment of swallowing in neurodegenerative disease.
Redenlab DRPLA specific speech battery 3 years Speech is assessed using the Redenlab software speech battery.
Trial Locations
- Locations (3)
University of North Carolina at Chapel Hill
🇺🇸Chapel Hill, North Carolina, United States
University College London
🇬🇧London, United Kingdom
NYU Grossman School of Medicine
🇺🇸New York, New York, United States