Friedreich's Ataxia Research Alliance - Clinical Trials - Active

Details: Category: Clinical Trials - Active - Enrollment Closed; Published: Monday, September 19, 2022

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

June 20, 2023– FARA received a letter from Design Therapeutics, expressing gratitude to the FA community for support of the Phase 1 and muscle biopsy studies. Read the letter here.

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.

Details: Category: Clinical Trials - Active - Enrollment Closed; Published: Friday, August 5, 2022

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

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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.

Details: Category: Clinical Trials - Active - Enrollment Closed; Published: Wednesday, February 16, 2022

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: This email address is being protected from spambots. You need JavaScript enabled to view it.
McKenzie Wells: Phone: (267) 426-9608; Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
Medina Keita: Phone: (267) 426-7584; Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
Kellie McIntyre: Phone: (215) 590-2975; Email: This email address is being protected from spambots. You need JavaScript enabled to view it.

View the Study flyer

Details: Category: Clinical Trials - Active - Enrollment Closed; Published: Monday, November 23, 2020

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: This email address is being protected from spambots. You need JavaScript enabled to view it.
Phone: 267-426-9567

University of South Florida
Investigator: Dr. Teresa Zesiewicz
Study coordinator: Mary Freeman
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Phone: 813-974-4685

UCLA
Investigator: Dr. Susan Perlman
Study coordinator: Aaron Fisher
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
Phone: 310-206-8153

University of Iowa
Investigator: Dr. Kathy Mathews
Study Coordinator: Evgenia Folts
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
Phone: 319-335-7617

University of Florida, Gainesville
Investigator: Dr. Sub Subramony
Study Coordinator: Amanda Cowsert
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
Phone: 352-733-2435

Murdoch Children's Research Institute, Victoria, Australia
Investigator: Dr. Martin Delatycki
Study coordinator: Geneieve Tai
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
Phone: +61 3 8341 6374

Centre Hospitalier de l'Universite de Montreal, Canada
Investigator: Dr. Antoine Duquette
Study coordinator: Martine Comeau
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
Phone: 514-890-8000 post 30154

CHU Sainte-Justine, Canada
Enrolling children <14 years old
Study Coordinator: Fabioloa Breault
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Phone: 514-345-4931 x5407

University of Campinas (UNICAMP) , Brazil
Investigator: Dr. Marcondes Cavalcante Franca Junior
Study coordinator: Maria Fernanda Ribeiro Bittar
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
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: This email address is being protected from spambots. You need JavaScript enabled to view it.
Phone: +33 (0) 1 57 27 46 91

Auckland City Hospital, New Zealand
Investigator: Dr. Richard Roxburgh
Study coordinator: Kay Yeoman
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
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: This email address is being protected from spambots. You need JavaScript enabled to view it.
Phone: 673 135168

Ospedale Pediatrico Bambino Gesu’ IRCCS, Italy
Investigator: Dr. Enrico Bertini
Study Coordinator: Dr. Antonella Longo
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
Phone: 39 06 68592105

Details: Category: Clinical Trials - Active - Enrollment Closed; Published: Tuesday, April 14, 2020

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.

Phase 1 clinical trial of DT-216 to assess the safety, tolerability, pharmacokinetics, and frataxin (FXN) levels in Friedreich Ataxia

LEOPARD-FA: Longitudinal Endpoint Optimization to Provide an Assessment of Relevant Drugs in Friedreich’s Ataxia

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

PTC-743: MOVE-FA Study

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