Please wait while your page loads ...

Gene Therapy for Cardiomyopathy Associated With Friedreich's Ataxia

About this research study:

Lexeo Therapeutics is sponsoring a clinical trial to learn about the safety and tolerability of 2 different doses of an investigational gene therapy in participants with cardiomyopathy associated with Friedreich’s Ataxia. This investigational gene therapy is specifically designed to deliver a normal copy of the human FXN (Frataxin) gene to the body which may lead to improvement in the cardiomyopathy associated with Friedreich’s Ataxia. All eligible participants will receive one of the two doses of gene therapy; there will no placebo in this study.

This study is being conducted at multiple different sites and will last approximately 5 years in total. The screening period will take up to 3 months, and then there will be 16 office visits during the first year following the investigational therapy administration. After that, there will be a long-term follow up period consisting of an additional 10 office visits over the next 4 years.

  • Immediately after the investigational gene therapy is given, participants will need to stay in the hospital for at least two nights
  • Participants will also need to reside close to the study site for up to 4 weeks after the investigational gene therapy is given
The investigational gene therapy and all study-related assessments will be provided at no cost. You may be reimbursed for study-related expenses, such as parking, meals, and other reasonable accommodations. Travel and accommodations will be arranged for participants.

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
    3. FAQs
You may be eligible if you:

  • Are male or female 18 - 40 years of age
  • Have a confirmed diagnosis of Friedreich’s Ataxia, with onset of disease before 25 years of age
  • Have evidence of cardiomyopathy
  • Are willing and able to undergo cardiac biopsies and MRIs
There are additional eligibility criteria that will be assessed and discussed with you by the study doctor at the time of screening.

Additional information can be found on:


How to participate:

This study is currently recruiting at University of California Los Angeles and University of South Florida. Other sites, including University of Iowa, and Mayo Clinic, will start recruiting at a later date.

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

UCLA - Aaron Fisher
adfisher@mednet.ucla.edu 310-206-8153
   or
USF - Shaila Ghanekar
sghanekar@usf.edu 813-974-5909

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.
 
 
 

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.

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.

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

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
Email: mcoker@peds.ufl.edu
Phone: (352) 294-8754

University of Minnesota, Minneapolis
Principal Investigators: Pierre-Gilles Henry, PhD, Christophe Lenglet, PhD
Study coordinator: Diane Hutter
Email: hutte019@umn.edu
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
Email: Kaufmanv@chop.edu

McGill University, Montréal, Canada
Principal Investigators: Massimo Pandolfo, MD; Alain Dagher, MD; David Rudko, PhD
Study coordinator: Gabriele Riva, PhD
Email: gabriele.riva@mcgill.ca
Phone: +1 514-398-6907

Monash University, Clayton, Victoria, Australia
Principal Investigators: Nellie Georgiou-Karistianis, PhD, Ian Harding, PhD, Louise Corben, PhD, Martin Delatycki, PhD
Study coordinator: Helena Bujalka
Email: helena.bujalka@monash.edu
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
Email: idogan@ukaachen.de
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
Email: bittarfernanda1@gmail.com
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.
 
 
 

A Phase 2 Study of CTI-1601 in Adults with Friedreich’s Ataxia

About this research study:

CTI-1601, a drug being developed by Larimar Therapeutics, is intended to increase frataxin levels in people with FA. The goal of this study is to evaluate the safety and tolerability of CTI-1601 injections in people with Friedreich’s ataxia (FA) over 28 days.

Study visits will take place at Clinilabs in Eatontown, NJ. Participation requires about 30 days of overnight stays at Clinilabs and a nearby hotel and several home visits by a nurse. Compensation for time and travel will be provided for qualified participants.

You may be eligible if you:
  • Are 18 years of age or older
  • Have genetically confirmed Friedreich’s ataxia (homozygous GAA repeat expansions)
  • Are able to go the distance of 25 feet with or without an assistive device
  • Are able to transfer from bed to chair either independently or with assistance while still physically contributing to the transfer in some way (e.g., able to partially support weight)
  • Can perform basic daily care, such as feeding yourself and personal hygiene, with minimal assistance
There will be additional eligibility criteria that will be assessed and discussed with you by the study team at the time of screening.

How to participate:

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

Michele Sapoff
(212) 994-4569
msapoff@clinilabs.com

Additional information can be found on the clinicaltrials.gov website (NCT05579691)
https://clinicaltrials.gov/ct2/show/NCT05579691

On Thursday, September. 22, 2022, FARA hosted a webinar with Dr. Carole Ben-Maimon, CEO of Larimar Therapeutics, to update the community on the status of CTI-1601. The recorded webinar can be found here: https://youtu.be/jg4Gocp0qPU.

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 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 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.
Joan Mallet 212-994-4567
or
Eileen Thomas 212-994-4567
getinvolved@clinilabs.com

View the study flyer

Additional information can be found on the clinicaltrials.gov website (NCT05285540) https://www.clinicaltrials.gov/ct2/show/NCT05285540

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.
 
 
 

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 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
hab4007@med.cornell.edu
   or
Noor Hasan, MBBS
646 962 5583
noh4004@med.cornell.edu

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.
 
 
 

Page 1 of 5

SHARE
 
Privacy Policy      Service Terms      Contact      Charity Navigator