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NCT04192136
Randomized, placebo-controlled trial with a 2x2 factorial design testing the effects of an NAD+ precursor (NR) and exercise on Peak VO2 and Si in Friedreich's Ataxia (FA). The primary objective of this research is to measure the effect of combination administration (NR + exercise) on aerobic capacity (Peak VO2) in FA. A key secondary objective is to measure the effect of combination administration (NR + exercise) on glucose homeostasis (Si) in FA.
NCT06054893
In this study, researchers will learn more about BIIB141, also known as omaveloxolone or SKYCLARYS®. This drug has been approved, or made available for doctors to prescribe, for people with Friedrich's Ataxia (FA) who are at least 16 years old. But, it is not yet available for children and teens with FA who are younger than 16 years old. The main objective of this study is to learn how BIIB141 is processed in the body of children and teens who are 2 to 15 years old. The main question researchers want to answer in this study is: * How does the body process BIIB141 in children and teens? * How many participants have medical problems during the study? * Are there any changes in the participants' overall health during the study? * Are there any changes in the participants' heart health? * Are there any changes in how the participants move through puberty? Puberty is the time in someone's life when their body changes from a child to an adult. This study will be done as follows: * Participants will be screened to see if they can join the study. The screening period will be up to 14 days, after which participants will check into their study research center. * There are 2 parts to this study. During Part 1, participants will take a single dose of BIIB141. Participants will be in 1 of 7 different groups based on their age: * Group A1: 12 to 15 years old, taking 150 milligrams (mg) of BIIB141 * Group A2: 12 to 15 years old, taking a dose of BIIB141 based on the data from Group A1 * Group B1: 7 to 11 years old, taking a dose of BIIB141 based on Group A1 data * Group C1: 2 to 6 years old, taking a dose of BIIB141 based on Groups A1, A2, and B1 data * Group A3: 12 to 15 years old, taking a dose of BIIB141 based on Groups A1, A2, and B1 data * Group B2: 7 to 11 years old, taking a dose of BIIB141 based on Groups A1, A2, and B1 data * Group C2: 2 to 6 years old, taking a dose of BIIB141 based on Group A1, A2, A3, B1, B2, and C1 data. * During Part 2, participants from Part 1 will take BIIB141 once in the study research center. Cohort A1 will take 150 mg of BIIB141. Dose of Cohorts A2 and B1 will be based on data from Cohort A1, dose of Cohorts C1, A3 and B2 will be based on data from Cohorts A1, A2 and B1, while Cohort C2's dose will be based on all the other groups. Participants will then take it once a day at home. * After leaving the study research center in Part 2, participants will return for tests at Week 4, Week 12, Week 24, and then every 24 weeks. Participants will also be contacted by telephone at Week 2, Week 8, and Week 18. * Participants will be in this study for up to 240 weeks.
NCT05445323
This is a Phase 1/2, open-label, dose-ascending, multicenter study of the safety and efficacy of LX2006 for participants who have Friedreich's Ataxia with evidence of cardiomyopathy. The study will evaluate up to three doses of single administration of LX2006 (AAVrh.10hFXN), an adeno-associated virus (AAV) gene therapy designed to intravenously deliver the human frataxin (hFXN) gene to cardiac cells over a 52-week period. Long-term safety and efficacy will be evaluated for an additional 4-years for a total of 5-years post LX2006 treatment.
NCT06692296
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.
NCT05943002
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.
NCT03761511
Friedreich ataxia is the most frequent early-onset autosomal recessive hereditary ataxia. It is caused by a pathological expansion of a GAA repeat in the first intron of the frataxin gene (FXN) and results in decreased levels of FXN protein. FXN deficiency results in a relentlessly progressive neurodegenerative condition which frequently presents around puberty. Patients gradually lose coordination, become dysarthric and are frequently wheel-chair bound as adolescents. There is no disease modifying therapy and many patients die prematurely of cardiomyopathy. It was subsequently found that the FXN gene is silenced at the chromatin level by the formation of heterochromatin and that this heterochromatin formation can be antagonized by histone deacetylase inhibitors (HDACi) (Chan et al., 2013). A recent proof-of-concept clinical study on ten patients with Friedreich ataxia demonstrated that FXN levels can be restored to those seen in asymptomatic carriers using the class III HDACi nicotinamide at a dose that is well tolerated by patients (Libri et al., 2014). Since carriers are asymptomatic, this degree of restoration of FXN expression might be expected to halt disease progression. Nicotinamide readily crosses the blood brain barrier and has previously been given at high doses for long periods to normal individuals without serious adverse effects (Gale et al., 2004; Knip et al., 2000). This study will be the first to provide clinical evidence for the efficacy and safety of nicotinamide in patients with Friedreich´s ataxia.
NCT04801303
Friedreich's Ataxia (FA) is an autosomal recessive disease the mutation of which leads to a deficiency of a protein called frataxin, which is responsible for the symptoms of the disease. It is assumed that inducing an increase in the production of frataxin could reverse part of the disease's symptoms. Several treatments with drugs that raise frataxin levels have been tested, but they have either have not given the expected result or have induced intolerable side effects. The IRBLleida (Institut de Recerca Biomèdica de Lleida Fundació Dr. Pifarré) team has shown that calcitriol can increase the production of frataxin up to 2.5 to 3 times, a higher proportion than any of the drugs previously tested. For that reason, the next step in our research would be to check the effects of this drug (Calcitriol 0.25mcg/24h for a year) in patients with FA. On the other hand, calcitriol, the active form of vitamin D, is a drug with a very low rate of adverse effects that has been used for decades. Therefore, it is a drug with a very well established tolerability. The results of the present study, if positive, would lead to the organization of trials at a larger scale, and they would allow the use of an effective treatment for patients with FA.
NCT03214588
The purpose of this study is to evaluate the efficacy of TAK-831 versus placebo on upper extremity (arm and hands) motor function and manual dexterity. This study will also evaluate the efficacy of TAK-831 versus placebo on activities of daily living (ADL) and other secondary assessments.
NCT04631224
Friedreich Ataxia (FA) is a hereditary neurological disease that is associated with a cerebellar syndrome and pyramidal symptoms. Clinical expression varies from one individual to another and throughout the evolution of the disease and is partially related to an abnormal expansion of the GAA triplet repeat in the frataxin gene. Dysarthria, a disorder in the motor production of speech, is always present in the clinical presentation of the disease (Schöls et al. 1997 ; Harding 1981 ; Dürr et al. 1996 ; Delatycki et al. 1999). It has been the subject of specific studies exploring the link between the evolution of dysarthria and disease progression (J. Folker et al. 2010; J. E. Folker et al. 2012; Rosen et al. 2012; Brendel et al. 2013). These studies allowed for the identification of markers for speech disintegration, specific to FA dysarthria, using perceptive voice measures, but also acoustics and objectives for qualifying voice and speech at the same time. The challenge is in finding measures sufficiently appropriate and sensitive to detect the evolution of these indicators throughout the course of the disease (Rosen et al. 2012). The neurological scales that take in to account all signs of a cerebellar syndrome are not sufficiently sensitive (Marelli et al. 2012). In addition, hearing difficulties develop during the course of the disease in addition to visual disturbances (gaze instability) which hinder communication. The ORFA study aims to evaluate oral communication in FA patients and identify appropriate measures that allow for the comparison of dysarthria pre and post-treatment in a clinical trial and can be used for the evaluation of efficacy.
NCT00824512
The purpose of this protocol is to determine the efficacy of EGb 761 120 mg bid versus placebo in patients suffering from Friedreich Ataxia
NCT02035020
The primary objective of this study is to investigate whether the treatment with IFN gamma can induce significant accumulation of frataxin in FRDA patients, a possibility suggested by pre-clinical evidence in an animal model of the disease.
NCT00015808
This study will determine the highest dose of idebonone that can safely be given to patients with Friedrich's ataxia, an inherited degenerative disease that causes loss of muscle coordination, speech problems, weakness and sensory loss. Enlargement of the left ventricle (the large pumping chamber of the heart) is also common in this disease. In studies in France and Canada, patients with Friedrich's ataxia who were given idebonone, an antioxidant similar to the dietary supplement coenzyme Q, had a decrease in the size of their left ventricle. Patients 5 years and older with Friedrich's ataxia may be eligible for this study. Pregnant and lactating women may not participate. Candidates will be screened with a medical history and physical examination and a review of genetic studies. Patients who have not had genetic studies will be offered genetic counseling and testing to confirm or rule out Friedrich's ataxia. Participants will be admitted to the NIH Clinical Center for 3 days. They will have blood and urine tests and a heart evaluation, including an echocardiogram-a procedure that uses sound waves to produce images of the heart, and an electrocardiogram-a study of the electrical activity of the heart. When these tests have been completed, patients will take an idebonone capsule. They will be monitored for side effects for 72 hours. Blood samples will be collected through an intravenous catheter (flexible plastic tube placed in a vein) 0.5, 1, 2, 3, 4, 6, 12, 24, 48 and 72 hours after the drug is taken to determine how long it takes for the drug to be eliminated from the body. Patients will return for a follow-up visit within 1 to 8 weeks. Those who experienced no serious side effects may receive another, higher dose of the drug, with at least 6 days between doses.