protocolSection identificationModule nctId: NCT06273150, orgStudyIdInfo id: 142048, briefTitle: Dentatorubral-pallidoluysian Atrophy Natural History and Biomarkers Study, acronym: DRPLA NHBS, statusModule overallStatus: RECRUITING, startDateStruct date: 2022-05-01, primaryCompletionDateStruct date: 2026-04, completionDateStruct date: 2026-04, studyFirstPostDateStruct date: 2024-02-22, lastUpdatePostDateStruct date: 2024-02-22, sponsorCollaboratorsModule leadSponsor name: University College, London, class: OTHER, collaborators name: University of North Carolina, Chapel Hill, collaborators name: NYU Grossman School of Medicine, descriptionModule briefSummary: 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., conditionsModule conditions: Dentatorubral-Pallidoluysian Atrophy, designModule studyType: OBSERVATIONAL, designInfo observationalModel: COHORT, timePerspective: PROSPECTIVE, enrollmentInfo count: 225, type: ESTIMATED, armsInterventionsModule interventions name: Positive genetic test for pathological expansion in ATN1, outcomesModule primaryOutcomes measure: Scale for the assessment and rating of ataxia (SARA), primaryOutcomes measure: Brain atrophy, primaryOutcomes measure: Neurofilament plasma concentration (NfL), secondaryOutcomes measure: Inventory of non-ataxia signs (INAS), secondaryOutcomes measure: Upper limb function test AIM-S, secondaryOutcomes measure: Redenlab DRPLA specific speech battery, secondaryOutcomes measure: Clinical Assessment of Dysphagia in Neurodegeneration (CADN), secondaryOutcomes measure: Tau plasma concentration, secondaryOutcomes measure: Glial fibrillary acidic protein (GFAP) concentration, secondaryOutcomes measure: Ubiquitin carboxyterminal hydrolase L1 (UCH-L1) concentration, eligibilityModule sex: ALL, stdAges: CHILD, stdAges: ADULT, stdAges: OLDER_ADULT, contactsLocationsModule locations facility: NYU Grossman School of Medicine, status: RECRUITING, city: New York, state: New York, zip: 10017, country: United States, contacts name: Claire Miller, role: CONTACT, phone: 212-263-4838, email: Claire.Miller@nyulangone.org, geoPoint lat: 40.71427, lon: -74.00597, locations facility: University of North Carolina at Chapel Hill, status: RECRUITING, city: Chapel Hill, state: North Carolina, zip: 27599-7025, country: United States, contacts name: Yael Shiloh-Malawsky, role: CONTACT, phone: 919-966-2528, email: yaelm@neurology.unc.edu, geoPoint lat: 35.9132, lon: -79.05584, locations facility: University College London, status: RECRUITING, city: London, zip: WC1N 3BG, country: United Kingdom, contacts name: Paola Giunti, role: CONTACT, phone: +44 7899974923, email: p.giunti@ucl.ac.uk, geoPoint lat: 51.50853, lon: -0.12574, hasResults: False