Clinical trials: Ataxia
Wolfram Syndrome, Diabetes Mellitus
Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study
In this study, the investigators hypothesize that studying monogenic variants with strong effect associated with severe insulin deficiency of Wolfram syndrome will provide important insights into the more complex type 1 and type…
- Conditions
- Wolfram Syndrome, Diabetes Mellitus, Optic Nerve Atrophy, Deafness
- Trial name
- NCT02841553
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- Washington University School of Medicine
MIRAS, Testicular Abnominalies
Could miRNAs be Used as Markers for Distinguishing Undescended Testicles From Retractile Testicles
Background: Undescended testicles (UDTs) are common in male infants. Untreated UDT poses risks such as infertility (IF), testicular cancer (TC), and testicular torsion (TT).
- Conditions
- MIRAS, Testicular Abnominalies, Undescended Testes
- Trial name
- miRNA (NCT07315737)
- Testing
- miRNA
- Where
- Turkey (Türkiye)
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Dr. Mevlüt Keleş
Ataxia-Telangiectasia (A-T)
Expanded Access Program (EAP) of Levacetylleucine for Ataxia-Telangiectasia (A-T)
This expanded access program provides investigational levacetylleucine to patients with Ataxia-Telangiectasia who are not eligible for clinical trials and have no satisfactory alternative therapies.
- Trial name
- NCT07380165
- Testing
- Levacetylleucine
- Sponsor
- IntraBio Inc
Friedreich's Ataxia, FRDA
GABA and GSH in FRDA
The goal of this study is to obtain gamma-aminobutyric acid (GABA) and glutathione (GSH) assessment derived from magnetic resonance spectroscopy (MRS), to be used as a potential biomarker in patients with Friedreich Ataxia (FRDA)…
- Trial name
- NCT07635030
- Testing
- MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Children's Hospital of Philadelphia
Spinocerebellar Ataxia
Natural History of Spinocerebellar Ataxia Type 7 (SCA7)
Background: Spinocerebellar ataxia type 7 (SCA7) is a disease in which people have problems with coordination, balance, speech and vision. It is caused by a change in the ATXN7 gene.
- Trial name
- NCT02741440
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- National Eye Institute (NEI)
Friedreich Ataxia, Neuro-Degenerative Disease
FA Clinical Outcome Measures
This multicenter natural history study aims to expand the network of clinical research centers in FA, and to provide a framework for facilitating therapeutic interventions.
- Trial name
- FA-COMS (NCT03090789)
- Where
- 14 sites in United States, Australia and 3 more
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Friedreich's Ataxia Research Alliance
Friedreich's Ataxia, Steroidogenesis
FRIEDREICH ATAXIA- STEROIDOGENESIS
Friedreich's ataxia (FA) is a rare autosomal recessive disorder caused by GAA repeat expansion in the FXN gene, leading to impaired iron-sulfur (Fe-S) cluster biosynthesis and mitochondrial dysfunction.
- Trial name
- FRIEDSTERO (NCT07123142)
- Where
- Turkey (Türkiye)
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Istanbul University
Cerebellar Ataxia
Efficacy of Riluzole in Hereditary Cerebellar Ataxia
The hereditary cerebellar ataxias include diverse neurodegenerative disorders. Hereditary ataxias can be divided into autosomal dominant ataxias (ADCAs), autosomal recessive ataxias (ARCAs), X-linked, and mitochondrial ataxias on…
- Trial name
- NCT01104649
- Testing
- riluzole
- Where
- Italy
- Volunteers
- 60 people
- Sponsor
- S. Andrea Hospital
Friedreich Ataxia
An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia
The purpose of this study is to document the clinical effects of bupropion and citalopram in a single subject with Friedreich Ataxia.
- Trial name
- NCT01716221
- Testing
- bupropion & Citalopram
- Volunteers
- 1 people
- Sponsor
- University of Colorado, Denver
Friedreich's Ataxia
A Study Investigating the Long-term Safety and Efficacy of Deferiprone in Patients With Friedreich's Ataxia
The primary objective of this study is to evaluate the long-term safety and tolerability of deferiprone in subjects with Friedreich's ataxia (FRDA).
- Trial name
- NCT00897221
- Testing
- Deferiprone oral solution 100mg/mL, Deferiprone oral solution 100 mg/mL
- Where
- 4 sites in Belgium, France and 2 more
- Volunteers
- 36 people
- Sponsor
- ApoPharma
Cerebellar Ataxia
Effect of Motor Imagery Training on Ataxic Children After Medulloblastoma Resection
Background: after resection of medulloblastoma in children they suffer from signs and symptoms of ataxia which impedes their activities of daily living.
- Trial name
- NCT04790981
- Testing
- motor imaginary training, physical thertapy training
- Where
- Egypt
- Volunteers
- 50 people
- Sponsor
- Cairo University
Spinocerebellar Ataxia Type 3, Machado Joseph Disease
Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3
Design: Phase II-III, double-blind, parallel, placebo controlled randomized Clinical trial Background: Spinocerebellar ataxia type 3 (SCA-3) is an autosomal dominant adult-onset neurodegenerative disorder for which there is no…
- Trial name
- NCT01096082
- Testing
- Lithium Carbonate
- Where
- Brazil
- Volunteers
- 62 people
- Sponsor
- Hospital de Clinicas de Porto Alegre
Friedreich Ataxia
Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia
The purpose of this protocol is to determine the efficacy of EGb 761 120 mg bid versus placebo in patients suffering from Friedreich Ataxia
- Trial name
- NCT00824512
- Testing
- EGb 761 120 mg
- Where
- France
- Volunteers
- 22 people
- Sponsor
- Ipsen
Friedreich Ataxia
A Natural History Study to TRACK Brain and Spinal Cord Changes in Individuals with Friedreich Ataxia (TRACK-FA)
This is a natural history study prospectively investigating neuroimaging markers of disease progression in children and adults with Friedreich ataxia (FA). There will be three assessment periods (baseline, 12 and 24 months).
- Trial name
- (TRACK-FA) (NCT04349514)
- Testing
- Natural history
- Where
- 7 sites in United States, Australia and 3 more
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Monash University
Dyssynergia
Randomized Controlled Trial of Biofeedback Therapy for Dyssynergic Defecation
Constipation is a common disorder and current treatments are unsatisfactory. Biofeedback may help patients with constipation and dyssynergic defecation, but its efficacy is unproven and whether this is due to behavioral…
- Trial name
- NCT00257842
- Where
- United States
- Sponsor
- Augusta University
Gaucher Disease, Type 3
High-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3)
Type: Prospective, open-label, single center study Duration: 6 months with an optional 12-month extension phase Participants: 12 pediatric patients diagnosed with type III Gaucher disease (GD3) aged ≥3 to ≤18 years old treatment…
- Trial name
- NCT07285369
- Testing
- Ambroxol
- Where
- Pakistan
- Volunteers
- 12 people
- Sponsor
- Agyany Pharma LTD
Friedreich Ataxia
Phase 1 Trial of Idebenone to Treat Patients With Friedreich's Ataxia
This study will determine the highest amount of idebenone that can be taken without harmful side effects in children, teenagers, and adults with Friedreich's ataxia, a progressive degenerative disease that affects several body…
- Trial name
- NCT00078481
- Testing
- Idebenone
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Celiac Disease, Cerebellar Ataxia
Gluten-Free Diet in Patients With Gluten Sensitivity and Cerebellar Ataxia
This study will screen patients with cerebellar ataxia to check for antibodies that indicate allergy to gluten (wheat protein) and will study the effect of a gluten-free diet in patients with these antibodies.
- Conditions
- Celiac Disease, Cerebellar Ataxia, Healthy
- Trial name
- NCT00006492
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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
Nervous System Disease, Genetic Syndrome
Intra-Erythrocyte Dexamethasone Sodium Phosphate in Ataxia Telangiectasia Patients
Objectives: The objective of study was to evaluate the safety and the efficacy of EryDex (Dexamethasone sodium phosphate encapsulated in autologous erythrocytes, using the EryDex System - EDS) at two dose levels (low dose and…
- Trial name
- ATTeST (NCT02770807)
- Testing
- EryDex Low dose DSP, EryDex High dose DSP
- Where
- 22 sites in United States, Australia and 10 more
- Volunteers
- 176 people
- Sponsor
- Quince Therapeutics S.p.A.