Friedreich's Ataxia

Researchers are evaluating a low-cost augmented reality platform for balance training in patients with balance disorders caused by degenerative injuries or cerebrovascular diseases. The study aims to determine if the system is usable, acceptable, safe, and if it improves balance. The trial is a usability study conducted by the Hospital Universitari Vall d'Hebron Research Institute. The intervention has two phases: the first phase lasts four weeks with supervised balance training sessions at the hospital, conducted for 60 minutes, three times a week. If patients meet inclusion criteria, the intervention continues for two additional weeks at home with a family member trained to assist as a training partner. The platform uses different exercise protocols accessed through RGSweb, including balance and sit-to-stand exercises with visual targets and movement tracking. Participants undergo three assessments: before treatment (Day 0), after the hospital phase (Week 4), and after the home phase (Week 6). Evaluations include usability scales, adherence measures, balance tests like the Berg Balance Scale, postural sway, sit-to-stand tests, balance confidence, and quality of life questionnaires. Safety is monitored throughout, and adherence is tracked during both hospital and home interventions.

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 studying the safety and effectiveness of a single dose of nexiguran ziclumeran (NTLA-2001) compared to a placebo in people with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). This phase 3, multinational, randomized, double-blind, placebo-controlled trial involves about 60 participants with this nerve disease and genetic condition affecting the peripheral nervous system. Participants will be randomly assigned to receive a single intravenous infusion of either nexiguran ziclumeran 55 mg or a placebo of normal saline. To give everyone a chance to receive the study drug, participants may switch to the other treatment group at either 12 or 18 months, depending on specific study criteria. The study is designed to compare the effects of the drug and placebo over time. During the study, participants will be monitored for nerve function using the Modified Neuropathy Impairment Score +7 (mNIS+7) over 18 months and blood levels of serum transthyretin at 29 days and 18 months. Quality of life, body mass index, and other health measures will also be evaluated. The study includes careful safety monitoring and will last up to 18 months with ongoing assessments to track participants' nerve health and overall well-being.

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.

Cognitive problems often occur in people with neurodegenerative diseases. Researchers are exploring how sleep disorders relate to the progression of these diseases by studying their clinical signs, brain imaging, and biological markers. This observational study aims to better understand the mechanisms behind sleep problems in neurodegenerative conditions. Participants will have assessments including neuropsychological tests, brain MRI scans, and electroencephalograms. Biological samples will also be collected to measure markers like plasma Ab2-42 levels. These evaluations will help observe changes in sleep quality, cognitive function, heart rate variability, and other relevant outcomes over time. People in the study will undergo baseline and follow-up tests such as the Pittsburgh Sleep Quality Index (PSQI), Montreal Cognitive Assessment (MoCA), and Addenbrooke's Cognitive Examination (ACE-III). Researchers will monitor sleep patterns and biological markers to track disease progression. The study includes adults aged 30 to 80 years and will continue through June 2030, providing long-term data on sleep disorders linked to neurodegeneration.

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 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.

This research aims to evaluate a long-term outpatient rehabilitation program using the Atalante X exoskeleton for adults with lower limb weakness or deficiencies caused by various conditions such as stroke, spinal cord injury, or neurodegenerative diseases. It addresses challenges in current rehabilitation care, like long wait times and limited accessibility, by exploring the potential benefits of robotic-assisted therapy over an extended period. Participants will engage in at least one exoskeleton rehabilitation session weekly during a 12-month intervention phase. These sessions involve ambulatory exercises with the Atalante X device, with intensity gradually increasing over time. After the initial year, participants may choose to continue in a voluntary extension phase for an additional year, following the same rehabilitation protocol. Throughout the study, participants will undergo assessments at the start, after 4 and 12 months, and for those in the extension phase, also at 16 and 24 months. These evaluations include tests of sitting function, walking ability, balance, muscle strength, cognitive function, and quality of life, along with monitoring of adverse events. The program also tracks detailed session data such as number of steps, session duration, and device assistance levels to understand adherence and impacts on motor and cognitive functions over time.