Spinocerebellar Ataxia (SCA)

This is an observational study. Subjects with a documented diagnosis of spinocerebellar ataxia (SCA) will be screened and recruited to participate at two clinical sites: Johns Hopkins University (JHU) and Columbia University (CU). Researchers at BioSensics, JHU, and CU will use wearable sensors computerized speech, psychomotor, and ocular assessments to evaluate the feasibility of using digital health technologies to monitor symptoms in SCA. Researchers will also measure the Scale for the Assessment and Rating of Ataxia (SARA) and other SCA clinical assessments. The solution will be deployed for 25 participants with SCA for approximately 12 months with 5 study visits (Screening/Baseline, Day 1, Day 30, Day 90, Day 180, Day 360).

This is a single-center, open-label study designed to evaluate the feasibility, safety, and preliminary efficacy of cerebellar adaptive deep brain stimulation (aDBS) in adults with spinocerebellar ataxia type 6 (SCA6). A total of 5 participants will be enrolled. Participants will undergo surgical implantation of deep brain stimulation (DBS) leads targeting the motor interposed nucleus of the cerebellum. The leads will be connected to one or two implantable pulse generators capable of delivering stimulation to deep brain structures and recording neural activity. Participants will complete up to 18 in-person study visits over a 24-month follow-up period. During these visits, neural signals will be recorded under varying behavioral tasks and stimulation conditions. Early study visits will be used to identify optimal stimulation parameters and neural biomarkers associated with disease state. These biomarkers will subsequently be used to implement adaptive DBS, in which stimulation amplitude is automatically adjusted in response to recorded neural activity. Study outcomes will include assessments of safety and feasibility of cerebellar aDBS, as well as preliminary evaluation of its effects on clinical measures.

The goal of this clinical trial is to test the safety of placing Deep Brain Stimulators (DBS) in the cerebellum and using electrical stimulation of that part of the brain to treat symptoms related to the participants spinocerebellar ataxia. Five adults diagnosed with spinocerebellar ataxia type 6 (SCA6) with inadequate cerebellar symptom relief will be implanted with a Medtronic Percept Primary Cell Neurostimulator. The device will be implanted into the dentate nucleus, which is a structure located within the cerebellum that is responsible for controlling movement and balance. Specifically, the investigators will be using adaptive deep brain stimulation (aDBS), which analyzes brain signals and automatically adjusts the strength, timing, and pattern of stimulation according to the patient's needs at any given moment. This study will evaluate the feasibility, safety, and tolerability of aDBS in SCA6 patients.