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 evaluating the combination of niraparib, a PARP inhibitor, with irinotecan in patients who have metastatic solid tumors and mutations in DNA repair genes such as BRCA12, ATM, or PALB2. This phase 1 trial aims to assess whether this combination can be given safely with manageable side effects and to determine the best dose for future studies. The study focuses on cancers like gastrointestinal tumors, ovarian cancer, and breast cancer where DNA repair defects are present. Participants will receive niraparib orally for the first 7 days of each 21-day cycle and irinotecan intravenously on day 1 of each cycle. Dosages of niraparib vary based on participant weight, ranging from 100 mg to 300 mg, while irinotecan doses are either 100 mgm or 150 mgm. Treatment continues until unacceptable side effects, disease progression, withdrawal, new cancer therapy, or death. Dose escalation is done in small groups to find the maximum tolerated dose. During the study, participants will be monitored for side effects for 30 days after stopping treatment and followed every 12 weeks for up to 2 years or until disease progression or death. Researchers will assess treatment safety, dose-limiting toxicities, response rates, duration of response, and progression-free survival. The total study duration includes active treatment and extended follow-up to evaluate both safety and preliminary effectiveness.

Researchers are conducting the Comprehensive HHT Outcomes Registry of the United States CHORUS, an observational study focusing on Hereditary Hemorrhagic Telangiectasia HHT, a rare genetic condition causing abnormal blood vessels in various organs. The study aims to better understand HHT, its symptoms, complications, and how it affects peoples lives. By collecting detailed information over time, the study hopes to improve knowledge of the disease and assist in developing new treatments. Participants diagnosed with HHT based on specific criteria or genetic testing will be included in the registry. The study will collect long-term data both retrospectively and prospectively from about 10,000 patients across multiple centers in the U.S. Over up to 10 years, participants will provide information through medical records and yearly questionnaires, helping researchers track changes in health, treatments, and symptoms. During participation, individuals will allow access to their medical records and answer study questions at enrollment and annually for up to 10 years or until the study ends. The data collected includes demographic details, diagnosis, family history, test results, symptoms, and treatments. The main outcomes measured over 10 years include baseline health status and clinical outcomes using specific assessment scales. The study also monitors severity of nosebleeds, development of vascular malformations, treatment results, and serious health events related to HHT.

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 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.

Researchers are conducting an observational study to explore the clinical and genetic features, multi-omics profiles, disease mechanisms, biomarkers, and potential treatment targets of hereditary ataxia HA in patients mainly from the Yangtze River Delta region of China. The study aims to identify key genetic variants, inheritance patterns, and how multi-omics data relate to disease progression and clinical symptoms. It seeks to apply these findings to improve clinical care for HA. Participants with HA will not receive any specific intervention but will be followed over time using an ambispective cohort design that collects both past and future clinical data. Biological samples such as blood and skin will be collected to create a biobank for multi-omics analysis. The research involves using genomics, transcriptomics, epigenomics, and other technologies to uncover molecular signatures and disease mechanisms. During the study, participants will undergo long-term follow-up assessments including clinical evaluations and cognitive tests such as SARA, ICARS, SDFS, MMSE, and MoCA scores over 10 years. Researchers will also measure genomic variants, gene causative factors, serum neurofilament light chain levels, and genome-wide methylation profiles. The goal is to thoroughly document disease onset, progression, and outcomes while monitoring biomarkers and genetic data for up to 10 years or until causative genes are identified.