Clinical trials: Ataxia, Spinocerebellar
Friedreich's Ataxia
Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept
Friedreich's ataxia (FA) is a rare progressive neurological disorder affecting approximately 1/30, 000 individuals. No treatment is presently available to counteract the neurodegeneration of this extremely severe disease.
- Trial name
- ACTFRIE (NCT00811681)
- Testing
- pioglitazone
- Where
- France
- Volunteers
- 40 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Ataxia Telangiectasia
NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
The study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms.
- Trial name
- NCT04870866
- Testing
- Nicotinamide ribonucleoside
- Where
- 2 sites in Norway
- Volunteers
- 13 people
- Sponsor
- University Hospital, Akershus
SCA38
Docosahexaenoic Acid (DHA) Replacement for Treatment in Spinocerebellar Ataxia 38
The project will study a therapeutic approach in Spinocerebellar Ataxia (SCA38) by DHA replacement. SCA38 is caused by missense mutations in the ELOVL5 (Elongation of very long chain fatty acids protein 5) gene.
- Trial name
- SCA38DHA (NCT03109626)
- Testing
- DHA
- Where
- Italy
- Volunteers
- 10 people
- Sponsor
- Barbara Borroni
Ataxia Telangiectasia
Baclofen Treatment of Ataxia Telangiectasia
This research is being done to find out if Baclofen, a medicine that is often used for the treatment of abnormal stiffness, might also be useful to treat some of the neurologic problems caused by ataxia telangiectasia (A-T).
- Trial name
- NCT00640003
- Testing
- Baclofen
- Where
- 2 sites in United States
- Volunteers
- 10 people
- Sponsor
- Johns Hopkins University
Friedreich's Ataxia
Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia
The purpose of this study is to determine if varenicline is effective in treating symptoms of Friedreich's ataxia.
- Trial name
- NCT00803868
- Testing
- varenicline
- Where
- 2 sites in United States
- Volunteers
- 28 people
- Sponsor
- University of South Florida
Ataxia, Spino Cerebellar Degeneration
Ataxia and Exercise Disease Using MRI and Gait Analysis
The first aim is to show balance training improves DCD individual's ability to compensate for their activity limitations, but does not impact disease progression.
- Conditions
- Ataxia, Spino Cerebellar Degeneration, Spinocerebellar Ataxias
- Trial name
- NCT03701776
- Testing
- Aerobic Training, Balance Training
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- Columbia University
Spinocerebellar Ataxia
Slowing Down Disease Progression in Premanifest SCA: a Piloting Interventional Exergame Trial
This is a piloting study using continuous motor training provided via whole body-controlled video games (exergames) to establish proof-of-concept evidence that such training leads to motor and neural changes in pre-manifest…
- Trial name
- SlowSCA (NCT02867969)
- Testing
- Motor training
- Where
- Germany
- Volunteers
- 26 people
- Sponsor
- University Hospital Tuebingen
Ataxia Telangiectasia, ATM Gene Mutation
Effects of Vitamin B3 in Patients With Ataxia Telangiectasia
This clinical trial investigates the effects of nicotinamide riboside (vitamin B3) on the disease course of patients with ataxia telangiectasia.
- Trial name
- NCT03962114
- Testing
- Vitamin B3
- Where
- Netherlands
- Volunteers
- 24 people
- Sponsor
- Radboud University Medical Center
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia 3
Clinical Trial Readiness for SCA1 and SCA3
The investigators plan to fill the gap between the current state of clinical trial readiness and the optimal one for SCA1 and SCA3, which are fatal rare diseases with no treatments.
- Trial name
- READISCA (NCT03487367)
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- The Methodist Hospital Research Institute
Spinocerebellar Ataxia Type 6
Parkinsonism in Spinocerebellar Ataxia Type 6
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of dominantly inherited progressive ataxia disorders. More than 30 different gene loci have been identified so far.
- Trial name
- NCT01934998
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Chicago
Friedreich's Ataxia
An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia
The purpose of this study is to learn how treatment with acetyl-L-carnitine (ALCAR) will affect the hearts of patients with Friedreich's Ataxia as well as how it may affect other symptoms of Friedreich's Ataxia such as…
- Trial name
- NCT01921868
- Testing
- Acetyl-L-Carnitine
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of South Florida
Ataxia Telangiectasia
Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT02285348
- Testing
- Lumbar puncture
- Where
- Germany
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
Ataxias Espinocerebelares
Effects of Transcranial Direct Current Stimulation Associated With Neurofunctional Rehabilitation in Individuals With Spinocerebellar Ataxias
The aim of this study is to evaluate the effects of . Transcranial direct current stimulation (tDCS) combined with neurofunctional rehabilitation on disease severity in individuals with neurodegenerative ataxias.
- Trial name
- NCT06974149
- Testing
- Neurofunctional Rehabilitation, transcranial direct current stimulation
- Where
- Brazil
- Volunteers
- 15 people
- Sponsor
- Federal University of Health Science of Porto Alegre
Friedreich Ataxia
Micronised Resveratrol as a Treatment for Friedreich Ataxia
The aim of this study is to assess the efficacy of micronised resveratrol as a treatment for FRDA, in terms of reducing the severity of ataxia symptoms at 24 weeks, through a randomised blinded, placebo controlled crossover trial.
- Trial name
- NCT03933163
- Testing
- Resveratrol
- Where
- 4 sites in Australia
- Volunteers
- 25 people
- Sponsor
- Murdoch Childrens Research Institute
Friedreich Ataxia, Cardiomyopathies
Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia
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).
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Cardiac Hypertrophy, Myocardial Fibrosis
- Trial name
- NCT05302271
- Testing
- AAVrh.10hFXN, serotype rh.10 adeno-associated virus (AAV) gene transfer vector expressing the cDNA coding for human FXN, Prednisone
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Weill Medical College of Cornell University
Stroke, Spinocerebellar Ataxia
Laryngeal Adaptation for Speech and Swallowing
This study will test laryngeal adaptation in speech and swallowing function in healthy adults, in patients with cerebral stroke, and in patients with spinocerebellar ataxia type 6.
- Conditions
- Stroke, Spinocerebellar Ataxia, Cerebral Stroke, Dysphagia
- Trial name
- NCT03770377
- Testing
- Intermittent Perturbation to Continuous Perturbation, Continuous Perturbation to Intermittent Perturbation
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Florida
Friedreich Ataxia
A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia
To test the variability of specific ribonucleic acid (RNA) and proteins as well as frataxin levels in samples of blood and buccal cells taken directly from patients with Friedreich's ataxia (FRDA) in order to confirm potential…
- Trial name
- NCT04255680
- Testing
- Buccal Swabs and Blood Draws
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Larimar Therapeutics, Inc.
Friedreich Ataxia
Efficacy of Stabilometric Platform to Improve Standing Balance in Patients With Friedreich's Ataxia
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…
- Trial name
- NCT06692296
- Testing
- Balance training over stabilometric platform, Balance training by means of conventional rehabilitation
- Where
- Italy
- Volunteers
- 24 people
- Sponsor
- IRCCS Eugenio Medea
Mitochondrial Diseases
EPI-743 for Mitochondrial Respiratory Chain Diseases
This study will evaluate the safety and efficacy of EPI-743 in participants with severe mitochondrial respiratory chain diseases who are considered to be within 90 days of end-of-life care.
- Trial name
- NCT01370447
- Testing
- EPI-743
- Where
- 16 sites in United States
- Sponsor
- PTC Therapeutics
Friedreich's Ataxia
Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's Ataxia
The objectives of the study are: To evaluate the safety and tolerability of single and multiple oral doses of VP 20629 in subjects with Friedreich's ataxia (FA).
- Trial name
- NCT01898884
- Testing
- VP 20629
- Where
- 5 sites in United States
- Volunteers
- 46 people
- Sponsor
- Shire