Biomarkers in Friedreich's Ataxia

Status Recruiting

Clinical Trial Summary

The purpose of this project is to characterize measures of cardiac performance and neuromuscular physiology in FA patients using novel techniques, including echocardiography and magnetic resonance imaging (MRI), metabolic exercise testing, and neurophysiological outcomes.

Clinical Trial Description

Friedreich's ataxia (FA) is an autosomal recessive disease caused by a mutation in the frataxin gene (FXN). Although rare, FA is the most common form of hereditary ataxia, affecting 1 in every 50,000 people in the United States. Currently, palliative therapies are the only treatment for FA patients. However, current gene therapy efforts in other neuromuscular diseases have positioned the investigator's research program to extend these discoveries and techniques to FA. As new therapies become available for clinical application, it is crucial to identify non-invasive outcomes measures of cardiac and neuromuscular performance with adequate sensitivity to detect the impact of treatments. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT02497534
Study type	Observational
Source	University of Florida
Contact	Mackenzi Coker, M.S.CCC-SLP
Phone	352-294-8754
Email	mcoker@peds.ufl.edu
Status	Recruiting
Phase
Start date	September 2015
Completion date	June 3, 2030

View Details

See also
Status	Clinical Trial	Phase
Completed	`NCT02660112` - (+) Epicatechin to Treat Friedreich's Ataxia	Phase 2
Completed	`NCT04102501` - A Study to Assess Efficacy, Long Term Safety and Tolerability of RT001 in Subjects With Friedreich's Ataxia	Phase 3
Completed	`NCT01962363` - EPI-743 in Friedreich's Ataxia Point Mutations	Phase 2
Completed	`NCT02179333` - Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND)
Completed	`NCT01016366` - Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia	Phase 2
Recruiting	`NCT02069509` - Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
Terminated	`NCT00803868` - Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia	Phase 2/Phase 3
Completed	`NCT02797080` - Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia	Phase 3
Completed	`NCT02415127` - Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia	Phase 3
Completed	`NCT00897221` - A Study Investigating the Long-term Safety and Efficacy of Deferiprone in Patients With Friedreich's Ataxia	Phase 2
Completed	`NCT02840669` - A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)	N/A
Completed	`NCT00697073` - Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients	Phase 3
Recruiting	`NCT02316314` - Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
Completed	`NCT00631202` - Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia	Phase 2
Completed	`NCT01728064` - Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia	Phase 2
Completed	`NCT02593773` - Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Study	Phase 3
Completed	`NCT01035671` - Safety and Efficacy Study of A0001 in Subjects With Friedreich's Ataxia	Phase 2
Completed	`NCT00811681` - Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept	Phase 3
Completed	`NCT00537680` - Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia	Phase 3
Completed	`NCT02445794` - A First in Human Study of RT001 in Patients With Friedreich's Ataxia	Phase 1/Phase 2