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An Open-Label Study to Evaluate Vatiquinone (PTC743) in Children With Friedreich Ataxia

About this research study:

This clinical research study is being conducted at the Children's Hospital of Philadelphia (CHOP). It will test the safety and effectiveness of a study drug called Vatiquinone in young children with FA. Vatiquinone has been tested previously in adults with FA and was found to be safe and well tolerated. Everyone who participates in this study will receive the study drug (no placebo). The study drug might help slow down the progression of FA symptoms and the information learned may also help others with FA in the future.

Participation in this study will last for about 82 weeks. It will involve approximately 9 in-person study visits at CHOP, as well as study phone calls in between visits. Your child will need to take the study drug three times a day for 72 weeks. After those 72 weeks, we will follow-up with one final phone call approximately 30 days after the last dose.

The study drug and all study-related assessments will be provided at no cost. Travel expenses, along with study-related expenses (e.g., meals) for the child and a parent/ caregiver will be reimbursed.

Who can participate:

Children under 7 years of age who:

  • Have been diagnosed with FA (confirmed by genetic testing)
  • Have not participated in any other interventional clinical trial in the past 2 months

How to Participate:

If you are interested in participating in this study and would like more information, please contact:

Medina Keita
(267) 426-7584

Courtney Cheek Park
(267) 426-9567

McKenzie Wells
(267) 426-9608

Kellie McIntyre
(215) 590-2975

Victoria Profeta
(215) 590-3129

Additional information can be found:


Phase 1 clinical trial of an investigational gene therapy for cardiac disease associated with Friedreich Ataxia

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

Inclusion Criteria:

  • 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)

Exclusion Criteria:
  • 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

Additional information can be found on (identifier: NCT05302271)

View the study flyer

If you are interested in participation and would like to learn more about the study, please contact:

Haley Bowe, BS
646 962 2672
Noor Hasan, MBBS
646 962 5583

LEOPARD-FA: Longitudinal Endpoint Optimization to Provide an Assessment of Relevant Drugs in Friedreich’s Ataxia

LEOPARD-FA is a research study that is being conducted by Dr. Chad Heatwole from the University of Rochester Department of Neurology in Rochester, New York, in the United States. This study utilizes surveys, so no office visits are required.

The purpose of this study is to assess the ability of two new surveys to:

  1. Measure patient-relevant changes in disease burden over time
    FA-HI (Friedreich Ataxia-Health Index)
  2. Measure caregiver-reported changes in disease burden over time
    FACR-HI (Friedreich Ataxia Caregiver Reported-Health Index)
This study will take place over the course of 18 months. If you decide to participate, you will complete 4 surveys at baseline, 6 months, 12 months, and 18 months. You will be asked to complete demographic information about yourself and answer questions about your FA symptomatic burden, your overall changes in health over time, and your preferences with using the surveys administered throughout this study. The surveys you will take at each time point will take about 40 minutes or less, in total, to complete.

Who can participate:

  • Individuals with FA ages 8 and older
  • Individuals who are caregivers, ages 18 or older, for individuals, ages 5-18, with FA.
Adults will be asked to read an information letter and provide their consent online to participate.

Minors, ages 8-17 will be asked to read an information letter, and their parent/guardian will also be asked to read an information letter. The parent/guardian must provide permission and the minor must provide assent online to participate. The parent/guardian may also need to help the minor in understanding and/or answering survey questions. The parent/guardian may choose to additionally participate in the caregiver study, in which the purpose is to assess the Friedreich’s Ataxia Caregiver-Health Index (FACR-HI).

How to participate:

Individuals with FA ages 18 and older may click the link here to get started: FA-HI survey

Parents/guardians of individuals with FA ages 5-18 may click the link here to get started: FACR-HI survey

Watch the FARA Minutes of Science video on the LEOPARD-FA study here

Watch Anika Varma present in the FARA Flash Talk series on the LEOPARD-FA study here

Any questions or comments can be directed to the study coordinator:
Anika Varma

Phase 1 clinical trial of DT-216 to assess the safety, tolerability, pharmacokinetics, and frataxin (FXN) levels in Friedreich Ataxia

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 first-in-human, Phase 1, study of DT-216 which means that trial will begin with single dose cohorts to assess safety. 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. After the single dose study, there will be a multiple dose study, which is also a safety study. Multiple dose studies typically assess safety over a period of several weeks to a month. More information on the multiple dose study will be available once the single dose study further along.

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
  • Must have completed full COVID-19 vaccination at least 4 weeks before treatment

This study is being conducted at Clinilabs and will require about a week long stay at the study site. Compensation will be provided for qualified participants and caregivers. Individuals and caregivers who are not local to the research facility will receive no-cost transportation and accommodations.

Contact Clinilabs for more information or to express interest in the study.
Clinical Research Unit Location:
4 Industrial Way, 2nd Floor
Eatontown, New Jersey 07724
(212) 994-4567 or visit

View the study flyer

Additional information can be found on the website (NCT05285540)

For more information about Design Therapeutics and DT-216, view the webinar hosted by FARA with Design, Oct 2021.
Webinar link:


Detailed metabolic and cardiac phenotyping in pediatric Friedreich's Ataxia

Detailed metabolic and cardiac phenotyping in pediatric Friedreich's Ataxia

Researchers at Vanderbilt University Medical Center are recruiting participants (male and female, children ages 7-17 years) with Friedreich’s Ataxia (FA) for a study to determine if there is a relationship between blood sugar abnormalities (risk of diabetes) and cardiac changes.

If your child is selected to participate in this study, your child may complete:

  • blood testing
  • oral glucose tolerance testing (with a non-FDA approved stable isotope product)
  • placement of a continuous glucose monitor
  • echocardiogram (ultrasound of the heart)
  • dual-energy X-Ray absorptiometry (DXA, x-ray scan)

These procedures are planned during a 1-2-day study visit.
You and your child will be compensated for your time.

To learn more about participation in this study, please contact Dr. Jaclyn Tamaroff through email at

Click here to see the study flyer

Dr. Jaclyn Tamaroff is a young FA clinician scientist. Before joining Vanderbilt University Medical Center, Dr. Tamaroff received a postdoctoral fellowship award from FARA in 2020 to study glucose excursion in youth with FA without known diabetes at the Children’s Hospital of Philadelphia. She was one of 4 winners for best presentations of the FA Research Flash Talks series that took place in May 2021. Click here to watch her flash talk


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