Ataxia-Telangiectasia

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 evaluating new approaches to cancer genetic counseling to improve patient engagement with genetics teams. This study includes two trials: the EfFORT Trial focuses on cascade genetic testing, where healthcare providers reach out directly to family members at risk to recommend testing, comparing it to the usual method where patients inform their relatives. The STRIVE Trial studies an online portal intervention to help patients with uncertain genetic test results and their primary care providers stay updated on new information about those results. The EfFORT Trial compares a control group where patients share a family letter with relatives against an intervention group where providers contact relatives directly, offering telegenetics counseling and at-home saliva testing. The STRIVE Trial compares standard care with a digital portal called MyGene Portal, which offers ongoing access to educational materials, communication tools, medical history updates, notifications about result reclassification, and reminders for follow-up visits. Both trials include standard post-test genetic counseling and follow-up recommendations. Participants will be involved through genetic counseling sessions, use of the online portal, and study surveys. Assessments include measuring how often genetic testing occurs in relatives and participant-perceived quality of care over 12 months. Researchers monitor engagement with the interventions, update family medical histories, and provide support for uncertain genetic results. The study is randomized and open-label, with participants actively involved in education, counseling, and communication activities throughout the study period.

Researchers are studying whether wearing a full-body electrical stimulation suit at home can help people with Multiple Sclerosis (MS) who experience muscle stiffness (spasticity) or poor coordination (ataxia). The study compares two groups: one using the stimulation suit alongside their usual care, and a control group receiving only their usual care. The purpose is to see if the suit reduces symptoms and improves daily functioning over six weeks. Participants in the intervention group will wear the tailored electro-stimulation suit daily or every other day for six weeks, starting with one week at an MS center and continuing five weeks at home. The suit delivers low-energy electrical pulses to key muscle groups and is programmed specifically for each user by trained medical staff. The control group will receive their usual rehabilitation care without the suit. Participants will undergo clinical tests at the MS center after one week and six weeks, including various physical and functional assessments like walking tests and muscle function scales. The study also collects weekly symptom ratings during the intervention. Researchers will measure changes in coordination, muscle stiffness, and overall physical ability, with safety monitoring throughout. The total participation lasts six weeks with scheduled evaluations.

This research investigates balance rehabilitation in patients with acquired chronic demyelinating neuropathy who experience walking instability due to sensitivity disorders. The study aims to evaluate how modifying visual input during rehabilitation might reduce visual dependence and strengthen proprioceptive input, potentially improving balance and walking ability in these patients. This multicenter study is conducted in the Paris area and plans to include 40 participants. Participants are randomly assigned to one of two groups. The experimental group undergoes 20 rehabilitation sessions with a Physical Therapist, performing balance exercises while keeping their eyes closed or with vision obstructed or disturbed by visual effects in a dark room. The control group also receives 20 rehabilitation sessions but performs balance exercises with their eyes open and no visual modification. Both groups have three assessments during the study. Participants will undergo evaluations including timed U-turns at comfortable and fast speeds, number of steps, double stance phase while walking, global movement amounts, walking times and steps over 10 meters, various sensory and balance tests, and balance confidence scales. Assessments occur just after rehabilitation completion and again two months later. The primary outcome is the U-turn completion time measured shortly after the last session. The rehabilitation program spans 20 sessions with follow-up evaluations up to two months post-treatment.

Researchers are studying the safety and potential effectiveness of combining two cancer drugs, niraparib and irinotecan, in people with advanced solid tumors that have specific genetic mutations affecting DNA repair, such as BRCA1, BRCA2, ATM, or PALB2. This phase 1 clinical trial aims to find out if this combination treatment can be given safely with manageable side effects and to determine the best dose for future studies. The trial focuses on cancers including gastrointestinal, breast, and ovarian types, where these mutations may affect treatment response. Participants will receive niraparib orally for the first seven days of each 21-day cycle, along with irinotecan given intravenously on the first day of each cycle. Dosage levels of niraparib and irinotecan will vary depending on participant weight and toxicity observed, with groups of three to six participants receiving different dose levels. Treatment continues until unacceptable side effects, disease progression, withdrawal, or other reasons, followed by a safety follow-up for 30 days and monitoring every 12 weeks for up to two years. During the study, participants will be evaluated for safety by tracking treatment-related side effects and determining the maximum tolerated dose. Researchers will also assess how well the treatment works by measuring tumor response, disease stability, and progression-free survival over time. Participants will undergo regular visits, assessments, and tests to monitor health, side effects, and treatment effects throughout the trial and follow-up period, which may last up to two years.

Researchers are conducting the Comprehensive HHT Outcomes Registry of the United States (CHORUS) to better understand Hereditary Hemorrhagic Telangiectasia (HHT), a rare genetic disorder causing abnormal blood vessels and related complications like bleeding, stroke, and heart failure. This observational study aims to collect long-term data on symptoms, complications, and the impact of HHT on patients' lives, helping improve knowledge and treatment options for the disease. Participants diagnosed with HHT through Curacao diagnostic criteria or genetic testing will be enrolled in this registry. The study will gather information retrospectively and prospectively over a 10-year period, collaborating with multiple HHT Centers of Excellence across the U.S. The registry will also serve as a centralized resource to help recruit participants for future clinical trials and research studies related to HHT. During the study, participants will provide permission to access their medical records and answer study-related questions by phone or clinic visits annually for up to 10 years. Researchers will collect data on demographics, diagnosis, family history, test results, treatments, symptoms, and complications. The main outcomes measured include baseline data and longitudinal clinical outcomes related to HHT, with additional assessments of severe morbidity, bleeding severity, vascular malformation growth, and treatment outcomes. Participants can withdraw at any time, and data confidentiality is prioritized.

Ataxia includes various neurological disorders that cause problems with coordination and balance due to cerebellum dysfunction. Traditional treatments often have limited effects, so researchers are exploring non-invasive brain stimulation (NIBS) methods like transcranial magnetic stimulation (TMS), transcranial direct current stimulation (tDCS), transcranial alternating current stimulation (tACS), and intermittent theta burst stimulation (iTBS) as possible therapies. This study aims to assess the combined effect of tACS and iTBS on balance in people with ataxia using a cross-over design where each participant serves as their own control. Participants will receive 10 sessions over two weeks of either real or sham 5Hz tACS combined with real or sham iTBS, along with exergaming biofeedback exercises. Stimulation is applied to the cerebellum with specific parameters for each technique, and the exergaming involves balance exercises guided by a computer system. The study compares the combined stimulation plus exergaming against sham stimulation plus exergaming to evaluate added benefits. During the study, participants will be assessed at baseline and after two weeks on measures including motor coordination, balance, and cerebello-cortical plasticity. Tests include the International Cooperative Ataxia Rating Scale (ICARS) and other scales evaluating health status and postural control. The study also monitors changes in brain excitability. Safety and compliance are tracked throughout, with a total participation period covering both treatment phases and assessments.

Researchers are investigating how a personalized work intervention called the Preventive Participatory Workplace Intervention (PPWI) can help people with progressive neurological and neuromuscular disorders keep working. The study focuses on improving work participation and quality of life for individuals with Parkinson Disease, cerebellar ataxia, hereditary spastic paraparesis, and slowly progressive neuromuscular or mitochondrial disorders. This research involves an 18-month randomized controlled trial including 124 Dutch workers. Participants are randomly assigned to either the PPWI group or a usual care group. The PPWI involves a trained facilitator guiding employees and their managers to identify work-related challenges and create agreed-upon solutions to overcome these obstacles. Actions are planned, executed, and evaluated with follow-ups at six months to address new challenges. Usual care continues without restrictions in both groups. During the trial, researchers assess participants at the start and after 6, 12, and 18 months. They measure need for recovery after work, self-efficacy at work, work-related well-being, quality of life, absenteeism, and presenteeism. The study also evaluates cost-effectiveness, the implementation process of the intervention, and its impact mechanisms. Participants will be involved in regular assessments and monitoring throughout the study period.

Researchers are studying urinary symptoms in patients diagnosed with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS). This condition affects the nervous system and is known to cause urinary system problems in about one third of patients. The main goal is to find out how common these urinary symptoms are and to explore possible complications in both the upper and lower urinary systems. They also want to see how urinary problems relate to the severity of neurological symptoms and signs of autonomic nervous system dysfunction. The study involves a detailed neurological exam using the SARA scale, laboratory tests for kidney function, autonomic nervous system tests including Sudoscan and orthostatic hypotension checks, urinary function questionnaires, urodynamic tests, and ultrasound of the urinary system. These assessments will help characterize the types and severity of urinary dysfunctions and their impact on quality of life. The study collects data at the start and follows participants for up to six months to evaluate biological and structural complications. Participants will undergo various exams and complete questionnaires to monitor urinary and neurological health. Researchers will evaluate urinary flow and autonomic nervous system symptoms, analyzing their relationships with neurological severity. The main outcome is to assess the prevalence of urinary dysfunctions confirmed genetically as CANVAS at the time of inclusion. Safety and study progress are monitored throughout, with the study expected to end in March 2027.