Friedreich's Ataxia Research Alliance

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

https://clinicaltrials.gov/ct2/show/NCT05168774

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:

Inclusion:

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

Exclusion:

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: parkcc@chop.edu
McKenzie Wells: Phone: (267) 426-9608; Email: wellsm@chop.edu
Medina Keita: Phone: (267) 426-7584; Email: keitams@chop.edu
Kellie McIntyre: Phone: (215) 590-2975; Email: mcintyrekc@chop.edu

View the Study flyer

PTC-743: MOVE-FA Study

PTC-743: MOVE-FA Study

MOVE-FA is a Phase 2/3 interventional study with sites in Australia, Brazil, Canada, the U.S. and throughout the EU. Eligibility criteria include:

Genetically confirmed FA with two GAA repeat expansions (currently, point mutations and deletions are excluded from the study)
Children ages 7-17 and Adults age 18 and older
Ability to walk 10 feet in one minute with or without assistance
Be able to swallow capsules
Not have participated in another interventional study in the 2 months prior to enrollment in MOVE-FA

Participation in MOVE-FA will last for 2 years and will involve about 10 in-person study visits, as well as study phone calls in-between visits. Participants will need to take the study drug or placebo three times a day for 72 weeks. After those 72 weeks, all study participants will receive the study drug for an additional 24 weeks during the open-label extension phase.

This interventional study will monitor the safety and efficacy of the drug Vatiquinone, which is expected to decrease the activity of an enzyme that allows free iron to trigger a type of programmed cell death that occurs more frequently in people affected with FA.

This study became fully enrolled in October 2021.

An informational webinar on PTC-743 can be viewed here:

This study is being conducted at the following institutions:

Children's Hospital of Philadelphia
Investigator: Dr. Dave Lynch
Study coordinator: Courtney Park
Email: ParkCC@email.chop.edu
Phone: 267-426-9567

University of South Florida
Investigator: Dr. Teresa Zesiewicz
Study coordinator: Mary Freeman
Email: mfreema4@usf.edu
Phone: 813-974-4685

UCLA
Investigator: Dr. Susan Perlman
Study coordinator: Aaron Fisher
Email: adfisher@mednet.ucla.edu
Phone: 310-206-8153

University of Iowa
Investigator: Dr. Kathy Mathews
Study Coordinator: Evgenia Folts
Email: Evgenia-Folts@uiowa.edu
Phone: 319-335-7617

University of Florida, Gainesville
Investigator: Dr. Sub Subramony
Study Coordinator: Amanda Cowsert
Email: Amanda.cowsert@neurology.ufl.edu
Phone: 352-733-2435

Murdoch Children's Research Institute, Victoria, Australia
Investigator: Dr. Martin Delatycki
Study coordinator: Geneieve Tai
Email: geneieve.tai@mcri.edu.au
Phone: +61 3 8341 6374

Centre Hospitalier de l'Universite de Montreal, Canada
Investigator: Dr. Antoine Duquette
Study coordinator: Martine Comeau
Email: martine.comeau.chum@ssss.gouv.qc.ca
Phone: 514-890-8000 post 30154

CHU Sainte-Justine, Canada
Enrolling children <14 years old
Study Coordinator: Fabioloa Breault
Email: fabioloa.breault.hsj@ssss.gouv.qc.ca
Phone: 514-345-4931 x5407

University of Campinas (UNICAMP) , Brazil
Investigator: Dr. Marcondes Cavalcante Franca Junior
Study coordinator: Maria Fernanda Ribeiro Bittar
Email: febittar@unicamp.br
Phone: +55 (19) 3521-9217

France, Institute du Cerveau et de la Molelle epiniere (ICM), Hopital Universitaire Pitie-Salpetriere
Investigator: Dr. Alexandra Durr
Study coordinator: Rania Hilab
Email: rania.hilab@icm-institute.org
Phone: +33 (0) 1 57 27 46 91

Auckland City Hospital, New Zealand
Investigator: Dr. Richard Roxburgh
Study coordinator: Kay Yeoman
Email: kay.yeoman@auckland.ac.nz
Phone: +64 274 790 725

Hospital Sant Joan de Déu Barcelona Unidad de Enfermedades Neuromusculares, Spain
Investigator: Dr. Alejandra Darling
Study Coordinator: Isabel Maria Miquel Aymar
Email: isabelmaria.miquel@sjd.es
Phone: 673 135168

Ospedale Pediatrico Bambino Gesu’ IRCCS, Italy
Investigator: Dr. Enrico Bertini
Study Coordinator: Dr. Antonella Longo
Email: antonella.longo@opbg.net
Phone: 39 06 68592105

The Friedreich’s Ataxia Health Index Study (FA-HI)

Title of Study: The Friedreich's Ataxia Health Index Study

Principal Investigator: Chad Heatwole, MD, MS-CI

Institutional Affiliation: University of Rochester, Department of Neurology

Study Description: This study aims to identify the symptoms that have the greatest impact on quality-of-life for individuals with FA. The results of the study will help guide future research involving FA patients through the development of a patient-reported measure of health.

The study involves completing a survey to include questions on demographics and symptoms of FA.

WHO CAN PARTICIPATE?

U.S. residents
Participants with a confirmed diagnosis of FA
Adults, ages 18 or older
Children, ages 8-17, with parental consent; if the child is age 13-17, only the child should complete the survey
Parents of children age 0-12; both parent and child can complete the survey for children ages 8-12.

Please see this Recruitment flyer to access the survey links.

CLIN-1601-102 - Larimar Therapeutics Phase I study of CTI-1601, a frataxin replacement therapy

Participants are needed for a Phase I research study to test an investigational medication in individuals with Friedreich's ataxia.

You May Be Eligible if You:

are 18 years of age or older,
have genetically confirmed Friedreich’s Ataxia with a copy of the genetic result (homozygous GAA repeat expansions), and
are able to go the distance of 25 feet with or without an assistive device or pushing oneself using a manual wheelchair.

Individuals should also be able to transfer from a bed to a chair with minimal assistance (e.g., being able to stand with support during a transfer) and perform basic daily care, such as feeding themselves and personal hygiene, with minimal assistance.

Please see this Recruitment Flyer for other Key Inclusion Criteria and contact information.

More information can also be found at Clinicaltrials.gov https://clinicaltrials.gov/ct2/show/NCT04176991.

Retrotope RT001-006 Phase 2/3 trial for protection against oxidative damage in the central nervous system

The Retrotope RT001-006 trial involves the study drug RT001, which may protect against lipid peroxidation, the process that is believed to cause disability in many neurodegenerative diseases, including Friedreich’s ataxia.

This study will involve five visits to a research clinic over a 12-month period. Each site visit can be done over multiple days. If you should decide to participate, you will be reimbursed for reasonable travel expenses.

To qualify, you must:

Have been diagnosed with Friedreich's ataxia
Be between 12 and 50 years old
Be able to walk at least 25-feet within 1 minute, with or without an assistive device
Not be actively enrolled in another clinical trial
Not have participated in the previous RT001 trial

For enrollment at Children's Hospital of Philadelphia only -
Please see this flyer to contact the study coordinator at CHOP.

For enrollment at our Long Beach, CA site -
Please see this flyer to contact the study coordinator.

For enrollment at our UCLA site -
Please see this flyer to contact the study coordinator.

For enrollment at other sites -
Please see this flyer to contact the study coordinator.

Clinical Trials