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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


FRDA Investigator Initiated Study (IIS) With Elamipretide (ELViS-FA)

The Children’s Hospital of Philadelphia (CHOP) is recruiting patients with Friedreich ataxia (FRDA) in the United States for a Phase 1/2 clinical trial studying the safety and effects of Elamipretide in the treatment of advanced stage FRDA symptoms, specifically vision loss and cardiac disease in both adults and older children.

This study will include up to 18 patients to be enrolled at the Children’s Hospital of Philadelphia.

Eligibility criteria include:


  • Be 16 years of age or older
  • Have genetic confirmation of your FRDA (point mutations allowed)
  • Have been diagnosed with FRDA at age 18 years old or younger
  • Have vision loss and/or cardiac disease
  • Be willing to administer a daily injection (shot)
  • Not be actively enrolled in any clinical trial

  • Have any clinically relevant medical or surgical condition that could interfere with the administration of study drug, or compromise your safety or well-being
  • Be pregnant, planning a pregnancy, or breastfeeding
  • Have a history of substance abuse
  • Have any other active cause of optic neuropathy or cardiac disease outside of FRDA
  • Have a history of an uncontrolled arrhythmia

Additional requirements apply and will be discussed with you by the study doctor.

If you agree to take part, your participation will require a phone pre-screening, as well as up to 6 in-person visits over the course of 1 year. As a subject in the research study you will:
  • Complete a phone pre-screening questionnaire to review eligibility criteria
  • Receive a study drug (Elamipretide) as a daily shot (injection)
  • Perform various vision testing
  • Undergo heart function evaluations
  • Have research blood tests at each study visit
  • Complete questionnaires and speech testing
  • Keep a subject dosing diary
The study drug and all study-related assessments will be provided at no cost. You may be reimbursed for study-related expenses, such as parking and meals up to $500 per visit.

Contact one of the CHOP study coordinators to learn more about what study procedures are involved and if you may be eligible to participate.

Courtney Cheek Park: Phone: (267) 426-9667; Email:
McKenzie Wells: Phone: (267) 426-9608; Email:
Medina Keita: Phone: (267) 426-7584; Email:
Kellie McIntyre: Phone: (215) 590-2975; Email:

View the Study flyer



NAD+ precursor supplementation in Friedreich ataxia (NCT04817111)

Research clinicians at the Children’s Hospital of Philadelphia (CHOP) are enrolling 10 participants in a study to evaluate safety, tolerability, and effects on cardiac and skeletal muscle bioenergetics of compound MIB-626, which is an NAD+ precursor. This Phase 2 study will be enrolling 10 participants and is open label, meaning that all participants will be taking the compound.

NAD+, or nicotinamide adenine dinucleotide, has two general functions in the human body: helping to generate energy in mitochondria and working as a helper molecule for proteins that regulate other cellular functions.

The study investigators plan to complete enrollment by April 10, 2022.

Eligibility criteria include:

-  Genetically confirmed diagnosis of FA
-  Age 18-64 years old

-  Concurrent use of Vit B3 supplements
-  Cardiac ejection fraction less than 40%
-  Contraindication to MRI (e.g., spinal rods)
-  Involvement in another investigational drug study (must be >4 weeks out from another trial)

Participation is this study involves completion of two (2) in-person clinic visits, at the beginning and end of the 14-day study. At the clinic visits, you will be asked to complete blood testing and MRI scans.

If you are interested in learning more about this study, please contact Anna DeDio at Children’s Hospital of Philadelphia through email or by phone (267)-425-1998.


TRACK-FA study: bioimaging of brain and spinal cord

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.

Study Website
TRACK-FA Informational Webinar

There are 3 study visits, each approximately 12 months apart. At each study visit, participants will be asked to complete -
  • Neurologic and functional testing
  • Blood draw
  • Brain and spinal cord MRI scan

Inclusion criteria (partial):
  • Age >5 years with genetically confirmed diagnosis of FA.
  • 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).
  • Age of disease onset less than 25 years.
  • Disease duration less than 25 years.
  • Able to read and converse in English.

Exclusion criteria (partial):
  • 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).

Additional information can be found on the website (NCT04349514)

Compensation is provided for time and travel expenses.

Sites open for enrollment

University of Florida, Gainesville
Principal Investigators: Sub H Subramony, MD, Thomas Mareci, PhD, Manuela Corti, PhD
Study coordinator: Samantha Norman
Phone: (352) 273-8218

University of Minnesota, Minneapolis
Principal Investigators: Pierre-Gilles Henry, PhD, Christophe Lenglet, PhD
Study coordinator: Diane Hutter
Phone: (612) 625-2350
More information about this team

Children’s Hospital of Philadelphia
Principal investigators: William Gaetz, PhD, Timothy PL Robets, PhD, David Lynch, MD, PhD
Study coordinator: Syama Patel
Phone: 267-425-1153

McGill University, Montréal, Canada
Principal Investigators: Massimo Pandolfo, MD; Alain Dagher, MD; David Rudko, PhD
Study coordinator: Martin Chevrier
Phone: +1 514-398-2538

Monash University, Clayton, Victoria, Australia
Principal Investigators: Nellie Georgiou-Karistianis, PhD, Ian Harding, PhD, Louise Corben, PhD, Martin Delatycki, PhD
Study coordinator: Helena Bujalka
Phone: +61 3 9905 3487

Department of Neurology, RWTH Aachen University
Aachen, Germany
Principal Investigators: Kathrin Reetz, MD, Imis Dogan, PhD, Sandro Romanzetti, PhD, Jörg B Schulz, MD
Study coordinator: Dr. Imis Dogan
Phone: +49-241-80 80719

University of Campinas, Brazil
Principal investigators: Marcondes C. França, MD, PhD and Thiago JR Rezende, PhD
Study coordinator: Dr. Fernanda Bittar
Phone: +55 19 98128004

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