Characterizing cardiac and neuromuscular performance in Friedreich's Ataxia patients

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This project aims to assess cardiac performance and neuromuscular physiology in patients with Friedreich's Ataxia (FA) using advanced techniques such as echocardiography, magnetic resonance imaging (MRI), metabolic exercise testing, and neurophysiological evaluations. FA is a rare genetic disorder that primarily affects movement and heart function, and current treatment options are limited to palliative care. By identifying non-invasive outcome measures, the study seeks to enhance the understanding of FA and prepare for future therapeutic interventions. The research will involve both FA patients and healthy subjects for comparative analysis.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Genetic diagnosis of Friedreich's ataxia by DNA sequencing, mutational analysis or protein assay OR be a healthy subject with no evidence of a neuromuscular disorder
* Between the ages of 6 and 70 (inclusive)
* Are able to tolerate metabolic exercise testing
* Are stable on cardiac medication regimen for 3 months prior to screening

Exclusion Criteria:

* Presence of unstable heart disease
* Receipt of cardiac transplant
* Any concurrent medical condition which, in the opinion of the investigators, would make the subject unsuitable for the study

Where it's running

• University of Florida
  Gainesville, Florida, United States Recruiting

Study contacts

• Principal investigator: Manuela Corti, PT, PhD — University of Florida
• Study coordinator: Mackenzi Coker, M.S.CCC-SLP
• Email: mcoker@peds.ufl.edu
• Phone: 352-294-8754

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Nomlabofusp by injection for Friedreich's Ataxia: efficacy and safety

  This study tests whether subcutaneous nomlabofusp helps adults and children with Friedreich's Ataxia compared with placebo.

  Recruiting at 3 sites Phase 3 Larimar Therapeutics, Inc. · Tampa, Florida and 3 other locations · NCT07778836

• Aerobic Exercise with Omaveloxolone in Friedreich's Ataxia

  This study tests whether aerobic training combined with omaveloxolone improves fitness and fatigue in people with Friedreich's ataxia.

  Recruiting Columbia University · New York, New York · NCT07444333

• High-density EEG mapping of brain connectivity in Friedreich's ataxia

  This pilot will test whether high-density EEG can detect brain connectivity patterns linked to motor and cognitive symptoms in people aged 8–60 with genetically confirmed Friedreich's ataxia.

  Recruiting IRCCS Eugenio Medea · Conegliano, Treviso · NCT07095062

• Characterizing heart issues in Friedreich's Ataxia

  This study is testing different ways to check heart health in people with Friedreich's Ataxia to see how heart problems affect them and find better ways to spot these issues.

  Recruiting Weill Medical College of Cornell University · New York, New York · NCT02316314

• LX2006 Gene Therapy for Friedreich Ataxia Cardiomyopathy (FA-CM)

  A Phase 2 study tests LX2006 gene therapy in people with Friedreich ataxia who also have cardiomyopathy to see if it helps heart function and safety.

  Recruiting Phase 2 Lexeo Therapeutics · Tampa, Florida · NCT07721025

• Nerve ultrasound in people with Friedreich ataxia

  This project uses routine peripheral nerve ultrasound to see if adults with genetically confirmed Friedreich ataxia have enlarged nerves.

  Recruiting Centre Hospitalier Universitaire de Nice · Nice, Alpes Maritimes · NCT07508631

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.