Friedreich's Ataxia Research Alliance

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

Gene Therapy for Cardiomyopathy Associated With Friedreich's Ataxia

About this research study:

The main goal is 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:

FARA’s Roadmap to Gene Therapy Readiness
Materials from the Cornell/Lexeo community webinar:

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:

clinicaltrials.gov identifier: NCT05445323
the study flyer

How to participate:

This study is currently recruiting at University of California Los Angeles. Other sites, including University of South Florida, 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:
Aaron Fisher
adfisher@mednet.ucla.edu
310-206-8153

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.

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
keitams@chop.edu

Courtney Cheek Park
(267) 426-9567
parkcc@email.chop.edu

McKenzie Wells
(267) 426-9608
wellsm@chop.edu

Kellie McIntyre
(215) 590-2975
mcintyrekc@chop.edu

Victoria Profeta
(215) 590-3129
profetav@chop.edu

Additional information can be found:

on the clinicaltrials.gov website (NCT05485987)
on the study flyer

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:

FARA’s Roadmap to Gene Therapy Readiness
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.

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:

Measure patient-relevant changes in disease burden over time
FA-HI (Friedreich Ataxia-Health Index)
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
510-556-6513
anika.varma@chet.rochester.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.

Clinical Trials