Ataxia

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 studying Friedreich's Ataxia (FA), a genetic condition, to assess the safety, tolerability, and how the body processes a drug called DT-216P2. This phase 1/2 open-label trial focuses on understanding these factors when the drug is given in multiple increasing doses to people with FA. The study is sponsored by Design Therapeutics, Inc. and aims to gather important information about the treatment's effects in this patient group. Participants will receive DT-216P2 through subcutaneous (under the skin) or intravenous (into a vein) administration in varying doses. The study includes multiple dose levels to observe the drug's behavior and side effects up to 12 weeks. There is no placebo group, and all participants will be treated with DT-216P2 during the study period, which starts in June 2025 and is planned to conclude by March 2027. During the study, participants will be closely monitored for any side effects or adverse events, with particular attention to treatment-emergent adverse events up to week 12. Researchers will also measure drug levels in the body, including maximum concentration and how long it stays in the system. Frataxin protein levels, important in FA, will be checked before and after treatment. Participants will be regularly assessed for safety and treatment effects throughout the study duration.

Researchers are monitoring people with advanced idiopathic Parkinson's 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.

Cerebellar ataxia is a condition that affects coordination, balance, walking, limb movements, and eye movements due to problems in the cerebellum. This study aims to understand the clinical and genetic features of cerebellar ataxia by creating a registered group of Chinese patients with this condition to follow over time. This observational study does not involve any treatment or intervention. It includes patients diagnosed with cerebellar ataxia by two neurologists, their relatives, and unrelated healthy individuals to serve as controls. Participants or their legal guardians must be willing and able to give informed consent. Participants will be followed up for up to 20 years to observe the occurrence of hereditary cerebellar ataxia. Researchers will collect clinical and genetic information during the study period. The study also tracks participant adherence and compliance with scheduled visits, with attention to those able to complete trial procedures and visit schedules.

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 Huntington's 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 whether an experimental vestibular implant system can improve balance in adults with bilateral vestibulopathy who have normal to severe hearing loss. The implant system includes a vestibular implant surgically placed behind the ear in the mastoid bone, combined with a cochlear implant sound processor and programming software, designed to preserve hearing in the implanted ear. The study aims to assess safety and performance in restoring balance in this population. Participants will receive the vestibular implant device, which stimulates the vestibular nerve via an electrode. The sound processor worn behind the ear powers the implant. The study includes a baseline pre-surgery phase and a six-month post-implantation follow-up period to evaluate changes in balance and hearing function. The intervention is implanted surgically and assessed over time. During the study, participants will undergo various tests to evaluate balance and hearing, including the Dynamic Gait Index, Functional Gait Assessment, posturography sensory tests, and questionnaires on dizziness, fall risk, and quality of life. Hearing thresholds will also be monitored. Assessments occur from baseline up to six months after activation of the implant. Safety and device-related adverse events will be closely monitored throughout the study.

Researchers are conducting an observational study to understand the safety of BIIB141, also known as omaveloxolone or SKYCLARYS, in people with Friedrich's Ataxia who took this drug during pregnancy and/or while breastfeeding. The study aims to learn about the effects of BIIB141 on pregnancy and the health of both mother and baby during the baby's first year. The main focus is on whether taking BIIB141 during pregnancy or breastfeeding leads to major birth defects and other pregnancy-related complications. Participants include women with Friedrich's Ataxia who used omaveloxolone at any time from shortly before conception through pregnancy, and/or during breastfeeding up to one year after birth or until weaning. This study collects health information without changing medical care and is conducted over a period expected to last at least 10 years. Participants remain in the study for up to one year after their child's birth unless they withdraw earlier. During the study, researchers will collect health data from participants' regular doctor visits, focusing on pregnancy outcomes, complications such as gestational diabetes and pre-eclampsia, and the baby's health including growth, development, infections, hospitalizations, and survival. The main outcome measured is the number of major birth defects over up to 10 years, with other outcomes tracking minor birth defects and various maternal and infant health events. Participants provide consent before joining and can leave the study at any time.

Researchers are studying omaveloxolone (also known as BIIB141 or SKYCLARYS®) to learn about its effects and safety in children and teens aged 2 to 15 years who have Friedreich's Ataxia (FA). While omaveloxolone is already approved for people 16 and older, this study focuses on younger participants. The study aims to understand how the medicine affects FA symptoms, the number of adverse events, and any changes in overall and heart health. Researchers will use the modified Friedreich's Ataxia Rating Scale (mFARS) and questionnaires to assess nerve function, quality of life, muscle strength, daily task ability, and puberty changes. They will also study how the body processes the drug in this age group. The study has two parts: Part 1 lasts about one year and is randomized and double-blind, where participants take either omaveloxolone or a placebo once daily by mouth. Participants will have up to nine clinic visits and one phone call during this time. Those who finish Part 1 can join Part 2, where everyone receives omaveloxolone openly for about two years with up to eight clinic visits and one phone call, plus a follow-up call after stopping the drug. Overall, participants may be in the study for up to three years, with up to 17 clinic visits and three phone calls. Participants will be assessed through clinic visits and phone calls that include physical exams, safety checks, heart function tests by echocardiogram, growth measurements, and questionnaires about symptoms and quality of life. Researchers will monitor nerve function using the upright stability score (USS) from mFARS and track adverse events throughout the study. Blood samples will be taken to measure omaveloxolone levels in the body. Safety and long-term effects will be evaluated during both study parts and follow-up periods.

Researchers are evaluating the long-term safety of a drug called BIIB141, also known as omaveloxolone or SKYCLARYS4, in people with Friedreich's Ataxia (FA). This observational study collects health information from participants without changing their medical care. It involves participants from the Friedreich's Ataxia Global Clinical Consortium (FA GCC) UNIFIED Natural History Study (UNIFAI) to better understand how FA affects patients and to monitor safety events related to the drug. Participants are divided into two groups: those who will start omaveloxolone treatment as prescribed by their doctors during the study, and those who have started treatment less than 12 months before joining. Participants will be followed for up to 5 years. Doctors will decide how often participants visit based on clinical judgment and drug labeling. Data will be collected at multiple time points, including 1, 2, 3, 6, 12, 24, 36, 48, and 60 months. During the study, researchers will monitor serious adverse events, including heart failure and liver damage related to the drug. They will also track reasons for stopping treatment, leaving the study, or taking more of the drug than prescribed. Participants remain under their own doctors' care, and health data from regular visits will be collected throughout the study period.