Chorea

Researchers are conducting a first-in-human, multi-center clinical trial to study the effects of SRP-1005 in people with Huntingtons disease HD. The trial is designed to evaluate the safety and impact of SRP-1005, a drug given by subcutaneous injection, compared to a placebo. The study includes adult participants aged 21 to 70 years who have a genetically confirmed diagnosis of HD and are at specific disease stages. Participants will be randomly assigned to one of four groups receiving different doses of SRP-1005 or a placebo. The study is double-blind, meaning neither the participants nor the researchers know who receives the drug or placebo. The treatment period includes dose escalation and monitoring to assess the drugs presence in plasma, urine, and cerebrospinal fluid over several weeks. During the study, participants will be monitored for side effects and adverse events from baseline through 24 weeks. Researchers will collect blood, urine, and cerebrospinal fluid samples to measure drug levels and safety. Participants must agree to use effective contraception if applicable, and the study excludes those with certain infections, other neurological illnesses, or conditions that prevent safe lumbar puncture or MRI. The total participation lasts at least 24 weeks with ongoing safety assessments.

Researchers are developing a multicenter registry to collect and share data on pediatric patients who have undergone deep brain stimulation DBS for movement disorders such as dystonia, epilepsy, Tourette syndrome, and mood disorders. The study aims to improve understanding of DBS safety and effectiveness in children, as current data are limited and individual centers often have too few cases for strong research. This registry will support large-scale analyses and help refine DBS as a treatment option for hyperkinetic movement disorders in the pediatric population. The study involves gathering both retrospective and prospective clinical data from multiple pediatric centers. The registry will collect information on surgical techniques, patient outcomes, implant sites, and long-term effects of DBS. This collaborative data-sharing approach enables comprehensive evaluation of which patients benefit most from DBS and how it impacts their quality of life over time. Participants include children aged 0 to 18 years who have already received or are scheduled to receive DBS for neurological movement disorders. Data will be collected over five years to monitor safety, efficacy, and quality of life outcomes. The study does not involve treatment administration but focuses on gathering and analyzing clinical information. Parental or legal guardian consent is required for prospective participation.

Researchers are monitoring people with advanced idiopathic Parkinsons Disease who have moderate to severe motor symptoms that do not respond well to medication. This study is an international, observational registry following patients who have undergone a unilateral pallidotomy using the Exablate Neuro device. The goal is to collect long-term information about this treatment after its approval. The treatment involves a focused ultrasound procedure called unilateral pallidotomy performed with the Exablate Model 4000 system. This registry will observe patients who have already received this procedure as part of their standard care. No additional treatment is given as part of the study. Patients will be followed with visits at 3, 6, and 12 months after the procedure, and then annually for up to 5 years. During the follow-up visits, researchers will collect information including any side effects, medication use, motor function scores, dyskinesia severity, quality of life, work productivity, and overall impressions from both doctors and patients. Safety and effectiveness will be assessed mainly by tracking responder outcomes over five years. Participants will be closely monitored throughout the study period, which may last up to five years from the time of the procedure.

Researchers are conducting a phase II randomized placebo-controlled trial to study oral N-Acetylcysteine NAC in individuals who carry the Huntington disease gene but do not yet show clear motor symptoms. The study aims to assess clinical and brain imaging outcomes over a three-year period, focusing on slowing disease progression in this premanifest stage. Participants will be randomly assigned to take either 1 gram of NAC capsules or matching placebo capsules twice daily by mouth. The study is quadruple-masked, meaning that participants, caregivers, investigators, and outcome assessors do not know which treatment is assigned. The treatment period lasts up to three years, with ongoing monitoring throughout. During the study, participants will undergo regular brain MRI scans to measure caudate atrophy rate and be evaluated for motor changes indicating disease progression. Various cognitive and behavioral tests, such as the UHDRS motor subscale, Stroop Word test, and Montreal Cognitive Assessment, will be performed at intervals over the three years. Safety will be monitored through laboratory tests, ECGs, and tracking of adverse events. Participants must comply with study procedures including blood draws and MRI scans for the full duration up to the study end in May 2027.

Researchers are evaluating the safety, tolerability, and initial effects of SPK-10001 gene therapy in adults with Huntingtons Disease. This randomized Phase 12 study aims to assess these aspects through a controlled, dose-escalation approach involving a one-time infusion into specific brain regions. The study focuses on participants aged 25 to 65 years who have confirmed genetic and clinical signs of Huntingtons Disease. Participants will receive either the SPK-10001 gene therapy or a placebo surgery control in a randomized, quadruple-masked design. The gene therapy is administered as a single bilateral intraparenchymal infusion into the caudate and putamen. The study includes dose escalation and monitoring over several years to evaluate safety and early signs of efficacy. During the study, participants will be monitored for treatment-emergent adverse events for up to approximately five years. They will undergo assessments including the Unified Huntingtons Disease Rating Scale Total Functional Capacity score and motor symptom progression measured by digital motor scores and composite scales at multiple time points up to 24 months. The study involves detailed safety and efficacy evaluations, with follow-up visits scheduled for long-term observation.

Researchers are investigating epilepsy-dyskinesia syndromes, which are rare genetic diseases causing both movement disorders and epilepsy in children. This multinational retrospective survey, supported by the International Parkinson and Movement Disorder Society, aims to collect detailed clinical and molecular data to better understand these conditions. The study focuses on identifying patterns in disease features, progression, and genetic links to improve knowledge and support precision medicine. The study collects previously recorded data from multiple countries, harmonizing information on clinical features, disease progression, age of onset, genetic variants, and coexisting neurological conditions. By standardizing this data, the survey addresses challenges in rare disease research like small, dispersed patient groups and inconsistent protocols. The goal is to build a shared clinical database and analyze how movement and seizure disorders relate at both clinical and molecular levels. Participants are children aged 0 to 18 years with diagnosed movement disorders linked to specific genetic variants. The study reviews existing medical records and genetic information without new treatments or interventions. Researchers will assess the disease spectrum, how movement disorders affect quality of life, and the effectiveness of symptomatic treatments over one year. The study encourages international collaboration to advance understanding and improve care for these rare conditions.

Researchers are studying spinocerebellar ataxia types 1 and 3 SCA1 and SCA3 and Huntingtons disease HD, which are serious genetic neurodegenerative disorders without current treatments to slow their progression. This first-in-human trial evaluates a new drug called VO659, designed to target harmful gene mutations by binding to specific RNA sequences. The study aims to assess the safety, tolerability, and how the drug moves through and affects the body when given via spinal injections.

Researchers are evaluating the safety, tolerability, pharmacodynamics, and pharmacokinetics of ALN-HTT02 in adult patients with Huntingtons Disease. This phase 1 study focuses on patients with stage 2 or early stage 3 Huntingtons Disease. Participants are randomly assigned to receive either ALN-HTT02 or a placebo in a double-blind manner to assess the effects of this intrathecally administered drug. Participants receive a single dose of ALN-HTT02 or placebo during the double-blind part of the study. Those who received ALN-HTT02 initially will not get another dose in the open-label part, while placebo recipients may receive a single ALN-HTT02 dose then. Additionally, participants can opt for repeat doses of ALN-HTT02 in an open-label extension lasting up to 36 months. Throughout the study, participants undergo monitoring for adverse events for up to 12 months during the double-blind and open-label parts, and up to 36 months in the extension. Researchers measure levels of mutant huntingtin protein in cerebrospinal fluid, as well as concentrations of ALN-HTT02 in plasma, cerebrospinal fluid, and urine. Safety, pharmacologic effects, and long-term tolerability are carefully assessed during this extended participation period.

Researchers are evaluating the safety, tolerability, and effectiveness of votoplam in slowing disease progression in patients with early symptomatic Huntingtons disease. This Phase 3 study compares votoplam to a placebo control group to better understand its impact on this genetic condition. The study is sponsored by Novartis Pharmaceuticals and uses the compound HTT227 formerly PTC518. Participants will be randomly assigned in a 32 ratio to receive either votoplam or placebo, both taken orally. The trial has three periods a screening period of up to 42 days to determine eligibility a double-blind treatment period lasting up to 36 months, with variable individual treatment durations and a safety follow-up period consisting of one visit or phone call 30 days after the end of the study for participants not continuing in an open-label extension. During the study, participants will undergo regular assessments including measurements of neurological function through the cUHDRS score and other clinical scales at baseline and month 36. Blood tests will monitor levels of mutant huntingtin protein and serum neurofilament light. Safety will be evaluated by tracking adverse events throughout treatment. This comprehensive follow-up aims to gather detailed information on disease progression and treatment effects over up to three years.

Researchers are evaluating the long-term safety and effectiveness of Abbott deep brain stimulation DBS systems used for various movement disorders, including Parkinsons disease, essential tremor, disabling tremor, and dystonia. This international, prospective, multicenter study collects data from patients implanted with Abbott DBS devices during routine clinical care to understand outcomes over time. Participants implanted with the Abbott DBS system will be observed without altering their treatment, as this is an observational study. The study follows subjects for five years from their initial programming visit to gather information on device performance and patient motor function over time. During the study, participants will have regular assessments using disease-specific motor rating scales such as MDS-UPDRS Part III for Parkinsons disease and FTM-TRS for tremor. Researchers will monitor changes in motor symptoms and record any serious device- or procedure-related adverse events. Study involvement lasts for five years, allowing long-term collection of safety and effectiveness data.