Clinical Trials

TRACK-FA is a natural history study to investigate brain and spinal cord changes in individuals with Friedreich ataxia. If imaging differences in the central nervous system are correlated with progression of FA, these differences could be used in future clinical trials to monitor treatment outcome.

As of Nov 2022, this study has enrolled about 150 participants however we still need another 150. The goal is to enroll 200 people with FA and 100 controls.

The University of Minnesota and University of Florida sites have immediate availability.

• Neurologic and functional testing
• Blood draw
• Brain and spinal cord MRI scan

• Age >5 years
• Individuals with FA must have a genetic confirmation, GAA repeat expansion >55 in length on both alleles of the FXN gene or GAA repeat expansion on one allele and another mutation type on the other allele (e.g., point mutation, gene deletion). If you don’t have your genetic testing report or didn’t have a test that reported repeat lengths you can be re-tested as part of the study protocol.
• Individuals with FA should have age of disease onset less than 25 years.
• Individuals with FA should have Disease duration less than 25 years.

• MRI contraindications such as pacemaker, other metallic surgical implants, metallic braces.
• Pregnancy
• Other ongoing medical conditions, including psychiatric and neurological diagnoses (speak with the site investigator).

DT-216 is a new molecule to activate transcription of the FXN gene and restore production of the frataxin protein. More specifically, it is a GeneTAC™ gene targeted chimera small molecule designed to specifically target the GAA repeat expansion mutation and restore FXN gene expression.

This is a frst-in-human, Phase 1, study of DT-216. The initial single ascending dose part of the Phase 1 has completed recruitment and we are now beginning the Multiple Ascending Dose (MAD) study. Enrollment will be in cohorts (typically 5-8 people). The first cohort will be enrolled and tested at the first dose, then there will be a review of the safety, then typically several weeks later the next cohort will be enrolled to test the next dose. In the MAD study subjects will be treated with a once a week dose over 3 weeks, with regular safety assessments after dosing. The study treatment period is approximately 21-22 days and includes 3 non-consecutive inpatient stays at the study unit for a total of 10 nights/11 days. In between the unit stays during the 3 week dosing subjects can stay at a local hotel. Maximum duration of study participation is approximately 10.5 weeks.

Inclusion criteria:

• Individuals with FA ages 18 to 55 years old (inclusive) at screening
• Genetically confirmed diagnosis of FA with homozygous GAA repeat expansions
• Weight between 90 and 200lbs (approximately)
• Ability to sit upright with thighs together and arms crossed without requiring support on more than two sides
• Ability to perform basic daily care such as feeding yourself and basic personal hygiene with minimal assistance

The investigational gene therapy involves a single, intravenous administration of a modified adeno-associated virus that delivers the normal FXN gene to the heart (and other organs). The goal of this initial clinical study is to assess safety and initial estimates of efficacy in treating heart disease.

Participation in this study requires an overnight stay at The New York Presbyterian Hospital/Weill Cornell Medicine for observation after administration of the study drug, followed by a one week stay at the Hemsley Hotel on the Weill Cornell Medical campus. Participants will then be assessed periodically over 5 years including 4 visits to the study site at Weill Cornell Medical campus at 1, 3, 6, and 12 months following administration of the study drug.

This clinical trial is funded by the National Heart, Lung, and Blood Institute at no cost to participants including travel and accommodation expenses.

To learn more about gene therapy please visit:

1. FARA’s Roadmap to Gene Therapy Readiness
2. Materials from the Cornell/LEXEO community webinar:
   1. Slides
   2. Unanswered audience questions

• Males and females, age 18 to 40
• Definitive diagnosis of FA, based on clinical phenotype and genotype (>600 GAA repeat expansion on both alleles)
• Left ventricle ejection fraction (EF) measured by cardiac MRI of >45% to 70%
• In the absence of other factors known to cause left ventricular hypertrophy (LVH), left ventricular mass index on cardiac MRI >2 standard deviations above the normal range
• Stroke volume index (<45 mL/m2) and/or global longitudinal left ventricular strain (<20%) on cardiac MRI
• <5% fibrosis in the left ventricular wall on late gadolinium enhancement cardiac MRI
• Serum neutralizing anti-AAVrh.10 titer <1:40
• Capable of undergoing cardiac MRI
• No contraindications to receiving corticosteroid immunosuppression
• Must be fully vaccinated against SARS-CoV2 (for Pfizer and Moderna 2 vaccinations + booster; for Johnson & Johnson / Janssen 1 vaccination + booster)

• Individuals receiving corticosteroids or other immunosuppressive medications
• Individuals with uncontrolled diabetes (glycated hemoglobin, HbA1c levels >7%)
• Genotype FA missense mutation on one or both alleles
• Contraindication to cardiac MRI (e.g., non-MRI compatible pacemaker/defibrillator) or gadolinium
• Any malignancy during the last five years, except basal cell skin cancer
• Prior participation in any gene and/or cell therapy