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Friedreich's Ataxia Clinical Trials

A listing of Friedreich's Ataxia medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.

RESULTS

Found (15) clinical trials

Friedreich's ataxia is an autosomal recessive cerebellar ataxia caused by triplet-repeat expansions. The causative mutation is a trinucleotide (GAA) repeat expansion in the first intron of the frataxin gene, leading to impaired transcription of frataxin. The pathological consequences of frataxin deficiency include a severe disruption of iron-sulfur cluster biosynthesis, mitochondrial ...

Phase

A prospective longitudinal study, measuring gait and balance of ambulatory people with FRDA over a 12 month period of time, will be conducted. Gait and balance measures will be assessed at baseline, 6 months and 12 months.

Phase N/A

This study includes the use of a 3D motion device that measures movement in three directions. It is being used as part of this research study to find out if it accurately tracks motion so it can be used in other ataxia research trials in the future.

Phase N/A

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.

Phase

Genetic and Environmental Determinants That Control Metabolism in Pulmonary Hypertension

After informed consent has been obtained, all participants will be asked to complete the following Medical history/chart review Physical exam Vital signs Blood draw (see details below) TEST GROUP: The study will include two visits for the test group. The research activities/procedures completed will depend on participant approval and physical ...

Phase N/A

Relationship Between Neurological Disability and Visual Impairment in Patients With ALS or Friedreich's Ataxia

All patients will be asked about their data and their general medical history, and will be underwent on one hand, a complete neurological examination including the degree of neurological impairment quantified according to the functional rating scale of ALS (ALSFRS-r) or Scale for the assessment and rating of ataxia (SARA); ...

Phase N/A

FA Clinical Outcome Measures

Friedreich's ataxia (FA) is a rare autosomal recessive degenerative disorder characterized by ataxia, dysarthria, sensory loss, diabetes and cardiomyopathy. The discovery of the abnormal gene in FA and its product (frataxin) has provided insight into possible pathophysiological mechanisms and novel approaches to treatments in this disease. While such methods for ...

Phase N/A

Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)

The EFACTS patient registry integrates prospectively and systematically collected clinical research data (e.g. clinical tests, demographical characteristics) with access to biological specimens (e.g. blood, urine) obtained from individuals with genetically confirmed FRDA and unrelated control research participants. The EFACTS patient registry started out as a 4-year study and is currently ...

Phase N/A

An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia

This study is an open label, pilot study of ALCAR in subjects with FA. In this study 20 patients with FA will receive ALCAR every day for 24 months. At the study endpoint, subjects will be assessed for changes in cardiovascular outcomes and FA symptoms. To determine the effects of ...

Phase N/A

A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)

Friedreich's ataxia (FA) is an autosomal recessive disease with an incidence of 1/50,000 in the Caucasian population. The main manifestations of FA are progressive sensory and cerebellar ataxia and cardiomyopathy (CM). It is the most common form of inherited ataxia. A severe CM affects ~60% of FA patients, mostly young ...

Phase N/A