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.
Study Type
OBSERVATIONAL
Enrollment
225
Positive genetic test for pathological expansion in ATN1
NYU Grossman School of Medicine
New York, New York, United States
RECRUITINGUniversity of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States
RECRUITINGUniversity College London
London, United Kingdom
RECRUITINGScale for the assessment and rating of ataxia (SARA)
Progression of ataxia is measured using a validated ataxia scale, SARA. Scores range from 0 (no ataxia) to 40 (most severe ataxia).
Time frame: 3 years
Brain atrophy
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.
Time frame: 3 years
Neurofilament plasma concentration (NfL)
Blood and CSF samples will be measured for NfL, a brain-derived protein.
Time frame: 3 years
Inventory of non-ataxia signs (INAS)
The occurrence of accompanying non-ataxia symptoms is assessed using INAS.
Time frame: 3 years
Upper limb function test AIM-S
Hand dexterity and upper limb function is assessed using the AIM-S spoon test.
Time frame: 3 years
Redenlab DRPLA specific speech battery
Speech is assessed using the Redenlab software speech battery.
Time frame: 3 years
Clinical Assessment of Dysphagia in Neurodegeneration (CADN)
Dysphagia is assessed using the CADN, an assessment of swallowing in neurodegenerative disease.
Time frame: 3 years
Tau plasma concentration
Blood and CSF samples will be measured for Tau, a brain-derived protein.
Time frame: 3 years
Glial fibrillary acidic protein (GFAP) concentration
Blood and CSF samples will be measured for GFAP, a brain-derived protein.
Time frame: 3 years
Ubiquitin carboxyterminal hydrolase L1 (UCH-L1) concentration
Blood and CSF samples will be measured for UCH-L1, a brain-derived protein.
Time frame: 3 years
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