Friedreich Ataxia

To evaluate the efficacy and safety of subcutaneous nomlabofusp in adult and pediatric subjects with Friedreich's ataxia

Friedreich ataxia (FA) is a rare, inherited condition that progressively affects balance, coordination, and walking. Clinical trials of new FA treatments rely largely on standard clinical rating scales, but these can be tiring for patients, feel disconnected from everyday life, and may not detect small but meaningful changes over time. More objective, sensitive, and patient-relevant ways of measuring movement are needed. This study is developing and testing a new digital way of measuring movement in FA. Participants play short, movement-based computer games on a laptop while a single camera and artificial-intelligence (AI) software track how they move. The proposition is that the way a person plays these games - their speed, accuracy, and movement quality - can provide objective, meaningful measurements of motor function. In the laboratory, these game-based measurements are compared against a "gold-standard" full-body motion-capture system and against established clinical scales to check how accurate and meaningful they are. The study involves both people with Friedreich ataxia (across a range of disease severity) and healthy volunteers. People with FA also take part in a 12-week home phase, playing the games at home each month with remote support, so the researchers can examine whether the digital measurements are reliable when repeated and whether they can detect change over time. The study asks whether these digital, game-based movement measurements are reliable, valid, and sensitive enough to be used as a "fit-for-purpose" digital clinical outcome assessment (dCOA) in future FA clinical trials, and whether patients find the platform acceptable, usable, and relevant to daily life. This is an early-stage feasibility and validation study designed to establish proof of concept rather than to test the effectiveness of a treatment.

The purpose of Study LX2006-03, a multicenter, Phase 2, open-label, randomized, controlled study, is to evaluate the efficacy and safety of LX2006 gene therapy in participants with Friedreich ataxia (FA) cardiomyopathy (CM).

In this study, researchers will learn more about the safety of BIIB141, also known as omaveloxolone or SKYCLARYS. This is a drug available for doctors to prescribe for people with Friedrich's Ataxia, also known as FA. This is known as an "observational" study, which collects health information about study participants without changing their medical care. Participants for this study will have taken BIIB141 at any time during pregnancy and/or while breastfeeding or pumping up through the first year after delivery. Participants can join this study on their own or they may be enrolled by their regular doctors. This study is also known as the "SKYCLARYS (Omaveloxolone) Pregnancy and Lactation Surveillance Program." The main objective of this study is to learn more about how BIIB141 may affect pregnancy, as well as any effects on the health of the mother and of the baby during its first year of life. The main question researchers want to answer in this study is: · Does taking BIIB141 during pregnancy or breastfeeding lead to any major birth defects? Researchers will also learn more about: * Does taking BIIB141 during pregnancy or breastfeeding lead to any minor birth defects? * Does taking BIIB141 during pregnancy or breastfeeding affect the following: * Gestational diabetes, a disease that can happen during pregnancy that affects how your body uses sugar * Pre-eclampsia, a pregnancy-related high blood pressure disease * Unborn baby being small for its expected age (usually in weeks) * Loss of an unborn baby * Live birth * Premature birth * Loss of a newborn * Growth or developmental delays in the baby * Serious illness in the baby resulting in hospitalization * Serious infections in the baby, or ones in babies with a weakened immune system This study will be done as follows: * Participants will join the study after signing an informed consent form, also known as an ICF. * During the study, health information from the participants' regular visits to their doctor will be collected based on whether participant joined the study while pregnant or after the baby is born. * Each participant will be in the study for up to 1 year after the birth of their child, unless they decide to leave early. Overall, this study is expected to last at least 10 years.

In this study, researchers will learn more about omaveloxolone, also known as BIIB141 or SKYCLARYS®. Omaveloxolone is already approved for people with Friedreich's Ataxia (FA) who are 16 years of age or older. However, it is not yet available for younger teens and children. The main goal of this study is to learn how omaveloxolone affects symptoms of FA and its safety in younger participants between the ages of 2 and 15 years old. The main questions researchers want to answer in this study are: * How does omaveloxolone affect the participants' FA symptoms? * How many participants have adverse events during the study? * Are there any changes in the participants' overall health or heart health? Adverse events are health problems that may or may not be caused by the study drug. Researchers will use the modified Friedreich's Ataxia Rating Scale (mFARS) to test nerve function. The mFARS tests movement ability, balance, coordination, speech, and arm and leg functions. They will also use a number of questionnaires to learn more about participants' quality of life, muscle strength, and ability to perform daily tasks. Researchers will also note any changes as participants go through puberty. Finally, researchers will learn more about how the body processes omaveloxolone in children and teenagers. This study will be done in 2 parts as follows: * Participants will be screened for up to 4 weeks to check if they can join the study. * In Part 1, participants will be randomly assigned to take either omaveloxolone or a placebo by mouth once a day for about 1 year. A placebo looks like the study drug but contains no real medicine. * Part 1 will be double blind. This means that the participants, study doctor, and site staff will not know if the participants are receiving omaveloxolone or a placebo. * Including screening, participants will have up to 9 clinic visits and 1 phone call during Part 1. If a participant does not join Part 2, they will have another safety follow-up phone call a month after their last dose of omaveloxolone. * Participants who complete Part 1 will move onto Part 2 where everyone will receive omaveloxolone for about 2 years. * During Part 2, participants will have up to 8 clinic visits and 1 phone call. Participants will also have a follow-up phone call about a month after they stop taking omaveloxolone. * In total, participants will have up to 17 clinic visits and 3 phone calls. Each participant will be in the study for up to 3 years.

Characteristics and clinical course of disease In participants with cardiomyopathy associated with Friedreich Ataxia (CLARITY-FA)

An open label study designed to evaluate the safety, PK, PD, and clinical effects of long-term daily administration of CTI-1601 enrolling adolescent and adult patients with FRDA who have participated in a prior clinical study of CTI-1601 as well as children (age 2 years and older), adolescents and adults with FRDA who have not participated in a prior clinical study of CTI-1601.

Friedreich's ataxia (FA) is a rare, inherited neurodegenerative disease that typically begins in children and young people. It primarily affects the spinal cord, peripheral nerves and cerebellum of the brain. Clinical manifestations include progressive gait and limb ataxia, auditory and optic neuropathy, cardiomyopathy, scoliosis, dysarthria, and dysphagia. In advanced stages, individuals may become wheelchair-dependent, leading to a severe loss of autonomy and reduced life expectancy. To date, there are no effective treatments known to reverse or halt disease progression. Heart disease remains the leading cause of death in individuals with FA. In January 2024, Omaveloxolone was approved for early access in France to treat FA in patients aged 16 years and older. Dysphagia is a central manifestation in FA, and may lead to severe complications such as malnutrition, dehydration, and aspiration-related pneumonia, as well as reduced self-esteem and social isolation. Despite its clinical relevance, dysphagia remains underexplored in clinical trials, including in major Omaveloxolone studies where no specific tool for measuring dysphagia has been incorporated. This study aimed to comprehensively evaluate the effect of Omaveloxolone on dysphagia after six months of treatment, in a cohort of French patients with Friedreich's ataxia who benefited from early access to treatment between February 2024 and May 2025. The severity of dysphagia will be assessed using the Sydney Swallow Questionnaire (SSQ), completed by patients at baseline and after six months of Omaveloxolone treatment.

In this study, researchers will learn more about the safety of BIIB141, also known as omaveloxolone or SKYCLARYS®. This is a drug available for doctors to prescribe for people with Friedreich's Ataxia, also known as FA. This is known as an "observational" study, which collects health information about study participants without changing their medical care. Participants for this study will be found using a group called the Friedreich's Ataxia Global Clinical Consortium (FA GCC) UNIFIED Natural History Study (UNIFAI). The FA-GCC is a group of study research centers that helps provide clinical care for FA patients and also helps researchers learn more about how FA affects patients over a long time. The main objective of this study is to collect safety information in participants with FA from UNIFAI. Some of the participants in this study will be prescribed BIIB141 for the first time by their own doctors. Some of the participants will have started taking BIIB141 after joining UNIFAI, but less than 12 months before joining this study. The main questions researchers want to answer in this study are: * How many participants had serious adverse events (SAEs)? An adverse event is considered serious when it results in death, is life-threatening, causes lasting problems, or requires hospital care. * How many participants had adverse events (AEs) related to heart failure or liver damage caused by the drug? Researchers will also learn more about : • Why and when participants stopped treatment, left the study, or took more of the drug than was prescribed This study will be done as follows: * Participants will be screened to check if they can join the study. * After joining the study, the participants who had never started BIIB141 treatment before must start it within 6 months. Otherwise, all participants will take BIIB141 throughout this study as prescribed by their own doctor. * During the study, each participant's doctor will decide how often the participant visits the study research center to check on their health. This will be based on the doctor's own clinical judgment and what is recommended by the drug's label. * Data from the participants' regular visits to their doctor will be collected at 1 month, 2 months, 3 months, 6 months, 12 months, 24 months, 36 months, 48 months, and 60 months. * Each participant will be in the study for up to 5 years.

The PROFA study is an international, multi-centric observational and validation study to assess the patient-reported, psychosocial and economic outcomes of patients with Friedreich Ataxia (FA). Eligible patients will be recruited from six study centers in Germany, Austria and France. Patients will complete a baseline assessment via face-to-face interviews at the study centers and multiple momentary follow-up assessments via a mobile-health app at home daily to monthly for six months. Study results will gain essential and in-depth insights into the daily life of patients with FA.

The purpose of this study is to test the safety and preliminary efficacy of AAVrh.10hFXN to treat the cardiomyopathy associated with Friedreich's ataxia (FA). AAVrh.10hFXN is a serotype rh.10 adeno-associated virus gene transfer vector coding for Frataxin (FXN). The drug is administered intravenously. This is a phase 1, open label, dose escalation study with a total of 25 participants.

"Friedreich ataxia is the most common inherited autosomal recessive ataxia. It is caused by a GAA repeat expansion in the frataxin gene on chromosome 9q21.11. Symptoms usually begin in childhood, typically between 9 and 13 years of age. The disease leads to progressive damage of the nervous system and the heart, as well as multisystem involvement of various degrees, leading to diabetes, vision and hearing loss and scoliosis. Over time, most patients lose the ability to walk and require a wheelchair, often by their mid-twenties. The severity and progression of the disease can vary depending on various factors such as the age at onset and the size of the GAA triplet expansion. Traditionally, Friedreich ataxia has been considered a disorder primarily affecting nerve cells, also called neuronopathy. However, recent studies using ultrasound imaging of peripheral nerves have shown that some nerves may appear enlarged, particularly in the upper limbs. This is in contrast with findings usually observed in other neuronopathies, where peripheral nerves tend to become thinner. The aim of this study is to use nerve ultrasound to better understand changes in intraneural vascularization and nerve in patients with Friedreich ataxia. In particular, we assess the presence of intraneural blood flow within the nerves using a high-resolution ultrasound technique. The study includes 13 patients with genetically confirmed Friedreich ataxia who are followed at the Neurogenetics Competence Center of Nice University Hospital. Ultrasound examinations are performed on the median and ulnar nerves at standardized locations: for median nerve at wrist, forearm (10 cm from the distal wrist crease), antecubital fossa, mid-arm and axilla; for ulnar nerve at the wrist, forearm (10 cm from the pisiform bone), at the elbow (5 cm below and above the elbow), mid-arm and axilla; the brachial plexus is measured at level C5, C6, C7. In addition to vascularization, we also measure nerve size (cross-sectional area) and evaluate internal nerve structure. This study aims to improve understanding of nerve involvement in Friedreich ataxia and to explore whether ultrasound could provide useful markers of disease severity."

This project is a global, multicenter, prospective, longitudinal, observational natural history study that can be used to understand the disease progression and support the development of safe and effective drugs and biological products for Friedreich ataxia.

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

The purpose of this study is to evaluate the safety and tolerability, and pharmacokinetics of DT-216P2 administered multiple ascending doses in patients with FA.

The primary objective is to evaluate the potential effectiveness of an individualized intensive rehabilitation intervention using the "Prokin 252" stabilometric platform in the treatment of adolescent and adult patients with Friedreich's Ataxia. The secondary objective is to assess the retention of the rehabilitation treatment effects over time. Enrolled patients will be randomized and assigned to one of two treatment groups for four weeks. Three assessments will be conducted for each patient: one before treatment (T0), one at the end of treatment (T1), and a follow-up assessment 90 days after T1 via telemedicine (T2). This study is: * Exploratory: The study aims to explore the usefulness of the stabilometric platform in a rehabilitative setting in combination with conventional therapy; * Not "first-in-human"; * Longitudinal: The study will investigate changes over time in motor and functional ability scales, as well as stabilometric platform parameters, within the same cohort; * Randomized, controlled, open-label; * Monocentric: The study will be conducted only at the "La Nostra Famiglia" Association in Conegliano and Pieve di Soligo - IRCCS Eugenio Medea in Conegliano - UOC Neuromotor Rehabilitation in Pieve di Soligo, Via Monte Grappa, 96, 31053 Pieve di Soligo TV; * Prospective; * Post-market.

This purpose of the study is to evaluate the safety, tolerability and pharmacokinetics of single ascending doses of DT-216P2 administered either subcutaneously (SC) and intravenously (IV) in normal healthy participants. Approximately 36 participants will be enrolled into this study.