Gene Therapy for Cardiomyopathy Associated With Friedreich's Ataxia

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 March 2023, this study has enrolled about 200 participants however we still need another 100. The goal is to enroll 200 people with FA and 100 controls.

The University of Minnesota and McGill University Montréal sites have immediate availability.

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

The study needs volunteers who either have a diagnosis of Friedreich ataxia (FA) or who do not (Controls). Controls will be healthy volunteers who are age- and gender-matched to the FA cohort.

Inclusion criteria (partial):

• 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.

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 clinicaltrials.gov website (NCT04349514)

Compensation is provided for time and travel expenses.

Track-FA Newsletters
July 2022 Newsletter


Sites open for enrollment

University of Florida, Gainesville
Principal Investigators: Sub H Subramony, MD, Thomas Mareci, PhD, Manuela Corti, PhD
Study coordinator: Mackenzi Coker
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Phone: (352) 294-8754

University of Minnesota, Minneapolis
Principal Investigators: Pierre-Gilles Henry, PhD, Christophe Lenglet, PhD
Study coordinator: Diane Hutter
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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: Victoria Kaufman
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McGill University, Montréal, Canada
Principal Investigators: Massimo Pandolfo, MD; Alain Dagher, MD; David Rudko, PhD
Study coordinator: Dylan Sembinelli
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Phone: +1-514-399-9021

Monash University, Clayton, Victoria, Australia
Principal Investigators: Nellie Georgiou-Karistianis, PhD, Ian Harding, PhD, Louise Corben, PhD, Martin Delatycki, PhD
Study coordinator: Helena Bujalka
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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
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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
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Phone: +55 19 98128004

Anyone considering participating in a clinical trial should discuss the matter with his or her physician. FARA does not endorse or recommend any particular studies.
 
 
 

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

This study is being conducted at Clinilabs in Eatontown, New Jersey or CenExel CNS in Long Beach, California. 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 or CenExel CNS for more information or to express interest in the study.

CliniLabs
Joan Mallet 212-994-4567
or
Eileen Thomas 212-994-4567
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CenExel CNS
Los Alamitos, California
Contact: Elisabeth Florez
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714.612.5548 or 714.891.0971

View the study flyer

Additional information can be found on the clinicaltrials.gov website (NCT05573698) https://clinicaltrials.gov/ct2/show/NCT05573698

For more information about Design Therapeutics and DT-216, view the webinar hosted by FARA with Design, Oct 2021.
Webinar link: https://www.youtube.com/watch?v=uSdWGp3cK4k

Anyone considering participating in a clinical trial should discuss the matter with his or her physician. FARA does not endorse or recommend any particular studies.
 
 
 

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 clinicaltrials.gov (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
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   or
Noor Hasan, MBBS
646 962 5583
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Anyone considering participating in a clinical trial should discuss the matter with his or her physician. FARA does not endorse or recommend any particular studies.