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 Friedreichs Ataxia FA, a genetic condition, to assess the safety, tolerability, and how the body processes a drug called DT-216P2. This phase 12 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 treatments 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 drugs 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 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.

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 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 an experimental vestibular implant system designed to improve balance in adults with bilateral vestibulopathy, a condition causing balance deficits and hearing loss. The implant is combined with a cochlear implant sound processor and programming software, aiming to preserve hearing in the implanted ear. This study focuses on adults with normal to severe hearing loss in the inner ear who have not benefited from conventional rehabilitation. The vestibular implant is surgically placed under the skin behind the ear in the mastoid bone and includes an electrode that stimulates the vestibular nerve. A sound processor worn behind the ear powers the implant via a coil. Participants will receive this implant and undergo a personalized rehabilitation program. The study evaluates changes in balance and hearing over time after implantation. Participants will be assessed before surgery and followed for six months after activation of the implant. Assessments include balance performance tests like the Dynamic Gait Index and Functional Gait Assessment, posturography tests, hearing threshold measurements, and questionnaires on dizziness, fall risk, and quality of life. Device or procedure-related adverse events will also be monitored throughout the study period.

Researchers are conducting an observational study to understand the safety of BIIB141, also called omaveloxolone or SKYCLARYS, in people with Friedrichs Ataxia FA who took this drug during pregnancy andor breastfeeding. The study aims to assess any risks to the mother and baby, including major and minor birth defects, maternal complications, and health effects on the baby up to one year after birth. This research will collect health information without changing participants regular medical care. Participants include women with FA exposed to omaveloxolone anytime from shortly before conception through pregnancy and breastfeeding up to one year after their baby is born or until weaning. The study involves collecting both new and past data from participants routine healthcare visits. The study will last at least 10 years to gather comprehensive information about pregnancy outcomes and infant health. During the study, researchers will monitor various outcomes such as the number of major and minor birth defects, gestational diabetes, pre-eclampsia, fetal loss, premature birth, infant growth and development, hospitalizations, and infections. Participants will join after consenting and remain in the study for up to one year after their childs birth unless they choose to leave earlier. The study collects data from routine care visits and does not involve administering any treatment.

Researchers are studying omaveloxolone, also known as BIIB141 or SKYCLARYS, to understand its effects and safety in children and teens aged 2 to 15 years with Friedreichs Ataxia FA. Omaveloxolone is already approved for people 16 years and older, but this study focuses on younger participants to see how the drug affects their FA symptoms, overall health, and heart function. The study also examines how the body processes omaveloxolone in this younger age group. Participants will first be screened for up to 4 weeks to determine eligibility. In Part 1, they will be randomly assigned to receive either omaveloxolone or a placebo by mouth once daily for about one year in a double-blind setup. Participants will have up to 9 clinic visits and 1 phone call during this time. Those who complete Part 1 can join Part 2, where all participants will receive omaveloxolone openly for about two years, with up to 8 clinic visits and 1 phone call. After stopping the medication, a follow-up phone call will occur about one month later. Throughout the study, participants will undergo various assessments including the modified Friedreichs Ataxia Rating Scale mFARS, questionnaires on quality of life and daily activities, and tests of muscle strength and nerve function. Researchers will monitor safety by tracking adverse events and heart health through echocardiograms. The total participation time can be up to three years, including all visits and follow-ups, to evaluate long-term effects and safety of omaveloxolone in young people with FA.

Researchers are evaluating the long-term safety of a drug called BIIB141, also known as omaveloxolone or SKYCLARYS4, in people with Friedreichs Ataxia FA. This observational study collects health information from participants without changing their medical care. It involves participants from the Friedreichs 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.