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Gene Therapy for the Cardiomyopathy of Friedreich’s Ataxia

Gene Therapy for the Cardiomyopathy of Friedreich’s Ataxia

The purpose of this study is to test the safety of the study drug, which is an adeno-associated virus serotype rh10 gene transfer vector (AAVrh.10hFXN), and see what effects it has to treat the cardiomyopathy associated with Friedreich’s ataxia (FA).The study drug, AAVrh.10hFXN, is a gene transfer vector which uses an adeno-associated virus serotype rh.10 as a vehicle to deliver the FXN gene into heart cells. It is hoped that the study drug will help produce the normal amount of frataxin, and thus return the function of your heart cells and limit the effects of the cardiac disease.

ClinicalTrials.gov Link: clinicaltrials.gov/ct2/show/NCT05302271

About the Study

Eligible Ataxia Types
Friedreich’s Ataxia

Type of Study
Interventional Trial

Clinical Trial Phase
Phase 1

Age Range
18+

Study Start Date
03/21/2022

Estimated Completion Date
12/31/2028

IRB Approval #
20-01021274

Location(s)

Weill Cornell Medicine/NHLBI
Department of Genetic Medicine
1305 York Ave, 13th Floor
New York, NY

Contact Information

Niamh Savage
nis2049@med.cornell.edu
646-962-5527

What does participation in the study entail?

You will be asked to come back to WCM at days 1-4, 7, 10, and 14 after the drug infusion; 1, 3, 6 and 12 months following the infusion. After you complete the 12-month on-site visit, you will have an additional assessment at WCM in year 2 at 3, 6, 9 and 12 months, and years 3-5 once yearly.

What are the potential benefits for participants?

It is hoped that the study drug will help produce the normal amount of frataxin, and thus return the function of your heart cells and limit the effects of the cardiac disease. 

What are the potential risks for participants?

The risks will be discussed with you by the study physician.

Is there financial compensation?

No.

Is there travel reimbursement?

Yes. At cost.

Who is eligible?

Patients who have been diagnosed with Friedreich’s Ataxia.

Additional Information or Resources

View Other Research Opportunities

PRIME-Ataxia RCT

This study aims to determine the feasibility and efficacy of an 8-week remote intervention of high intensity aerobic exercise prior to balance training compared to an 8-week remote intervention low Read More…

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Read More »
Print Friendly, PDF & Email

The purpose of this study is to test the safety of the study drug, which is an adeno-associated virus serotype rh10 gene transfer vector (AAVrh.10hFXN), and see what effects it has to treat the cardiomyopathy associated with Friedreich’s ataxia (FA).The study drug, AAVrh.10hFXN, is a gene transfer vector which uses an adeno-associated virus serotype rh.10 as a vehicle to deliver the FXN gene into heart cells. It is hoped that the study drug will help produce the normal amount of frataxin, and thus return the function of your heart cells and limit the effects of the cardiac disease.

ClinicalTrials.gov Link: clinicaltrials.gov/ct2/show/NCT05302271

About the Study

Eligible Ataxia Types
Friedreich’s Ataxia

Type of Study
Interventional Trial

Clinical Trial Phase
Phase 1

Age Range
18+

Study Start Date
03/21/2022

Estimated Completion Date
12/31/2028

IRB Approval #
20-01021274

Location(s)

Weill Cornell Medicine/NHLBI
Department of Genetic Medicine
1305 York Ave, 13th Floor
New York, NY

Contact Information

Niamh Savage
nis2049@med.cornell.edu
646-962-5527

What does participation in the study entail?

You will be asked to come back to WCM at days 1-4, 7, 10, and 14 after the drug infusion; 1, 3, 6 and 12 months following the infusion. After you complete the 12-month on-site visit, you will have an additional assessment at WCM in year 2 at 3, 6, 9 and 12 months, and years 3-5 once yearly.

What are the potential benefits for participants?

It is hoped that the study drug will help produce the normal amount of frataxin, and thus return the function of your heart cells and limit the effects of the cardiac disease. 

What are the potential risks for participants?

The risks will be discussed with you by the study physician.

Is there financial compensation?

No.

Is there travel reimbursement?

Yes. At cost.

Who is eligible?

Patients who have been diagnosed with Friedreich’s Ataxia.

Additional Information or Resources

View Other Research Opportunities

PRIME-Ataxia RCT

This study aims to determine the feasibility and efficacy of an 8-week remote intervention of high intensity aerobic exercise prior to balance training compared to an 8-week remote intervention low Read More…

Print Friendly, PDF & Email
Read More »
Print Friendly, PDF & Email
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