The study is being conducted with multiple sites in the United States and Canada seeking to recruit approximately 9 participants aged 18-40 with a diagnosis of FA-associated cardiomyopathy. The study will be conducted by Dr. Antoine Duquette at the CHUM in Montreal.

The choice of Montreal as a site reflects the professionalism, rigor and commitment of Dr. Duquette and his team to their patients. This also reflects the work of the foundation in the background, we play the role of facilitator of projects and innovations, but also of patient representations to decision-makers and various stakeholders.

As you may know, people with FA have changes in the frataxin (FXN) gene that lead to a decreased amount of FXN protein. This causes cells in the body, including heart muscle cells, to work abnormally. In FA associated cardiomyopathy the heart muscle thickens and stiffens, which can lead to heart failure and heart rhythms that are not normal.

This investigational gene therapy is specifically designed to deliver a normal copy of the FXN gene to heart muscle cells (and other cells in the body). The gene is delivered via a modified virus through an intravenous administration (into the blood stream via needle). Once the normal FXN gene is in the cell it may result in the production of increased amounts of FXN protein, which could then stabilize or improve the function and structure of the heart muscle cells. Since this gene therapy has not yet been tested, we do not know if it is a safe or effective treatment for Friedreich’s Ataxia patients with cardiomyopathy. The main goal of this study is to learn about the safety and tolerability of 3 different doses of the investigational gene therapy. All study participants will receive the investigational therapy, there is no placebo. A placebo is therapy that has no active properties.

Participation in this study will involve attending study visits over an approximate 5-year period. Participants who are eligible and participate in this study will receive the investigational gene therapy and can expect at least 16 office visits over the first 1.5 years. There will be approximately 5 visits at the study center and 3 remote visits over the next four years as part of a long-term follow up period. Participants will need to meet all study eligibility criteria as assessed by the study doctor, prior to receiving the investigational gene therapy.

The investigational gene therapy and all study-related assessments will be provided at no cost, and you will be reimbursed for any reasonable study-related expenses which may include fees for parking, meals, and other reasonable accommodations. Travel and accommodations will be arranged (and the cost covered) for participants in the study.

If you are a patient or caregiver who would like to learn more about this study, please visit www.clinicaltrials.gov

(NCT05445323) to find out more information about participating in the study. We also encourage any individual considering participation in a clinical trial to consult with his/her physician or medical team.

Dr Antoine DUQUETTE

Investigative researcher

Neurologist

Department of Medicine, CHUM

Assistant clinical professor

Department of Neurosciences, Faculty of Medicine, University of Montreal

Contact details

Telephone: 514-890-8123

Email: antoine.duquette@umontreal.ca