Interferon Gamma-1b in Friedreich Ataxia (FRDA)

NCT01965327 | Completed Phase 2 Results DMC

• 1 other identifier: 13-010121
• Study Type: interventional
• Target: 12
• Locations: 1 country
• Sites: 1

Brief Summary

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy. Recently, a study reported that interferon gamma (IFN-g) could raise frataxin protein levels in both cell lines derived from patients with Friedreich ataxia and in a mouse model with Friedreich ataxia. The present study will test whether IFN-g is safe, tolerated and potentially efficacious in a heterogeneous cohort of children with FRDA.

Conditions

Friedreich Ataxia

Keywords

Friedreich ataxia; Interferon gamma-1b; FRDA

Outcome Measures

Primary Outcomes (1)

• Change in Whole Blood Frataxin Levels

  Assessment of the change in whole blood frataxin levels as assessed by lateral flow assay using an immunoassay for frataxin. Frataxin levels in the blood were measured at each study visit. Change in frataxin level at the end of treatment (week 12) relative to frataxin level at baseline was analyzed.

  Frataxin levels were measured at the beginning and conclusion of treatment (baseline and 12 weeks)

Secondary Outcomes (1)

• Change in Total Friedreich Ataxia Rating Scale (FARS) Score

  FARS score was calculated at the beginning and conclusion of treatment (baseline and 12 weeks)

Study Arms (1)

Interferon Gamma-1b (ACTIMMUNE)

EXPERIMENTAL

All individuals in this study will be given active medication (interferon gamma-1b) for 12 weeks. This will be administered according to a dose-escalation schedule.

Drug: Interferon Gamma-1b

Interventions

Interferon Gamma-1b DRUG

Subjects will begin by taking 10 mcg/m2 of IFN-g-1b for the first two weeks of the study. Dose will be escalated to 25 mcg/m2 of IFN-g-1b for weeks three and four of the study. Finally, the dose will be escalated to 50 mcg/m2 of IFN-g-1b for the last eight weeks of the study, which is the current dose approved by the FDA for children. All doses will be administered via subcutaneous injection.

Also known as: Actimmune™, IFN-g-1b

Interferon Gamma-1b (ACTIMMUNE)

Eligibility Criteria

• Age: 5 Years - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Subjects with FRDA confirmed by genetic testing with 2 expanded Guanine-adenine-adenine repeats
• Females who are not pregnant or breast feeding, and who do not intend to become pregnant. Females of child-bearing potential must use a reliable method of contraception and must provide a negative urine pregnancy test at screening
• Stable doses of all medications, vitamins and supplements for 30 days prior to study entry and for the duration of the study
• Parent/guardian permission (informed consent) and child assent

You may not qualify if:

• Any unstable illness that in the investigator's opinion precludes participation in this study
• Use of any investigational product within 30 days prior to enrollment
• Subjects with a history of substance abuse
• Presence of clinically significant cardiac disease
• History of hypersensitivity to IFN-g or E. coli derived products
• Presence of severe renal disease or hepatic disease
• Clinically significant abnormal White blood cell count, hemoglobin or platelet count
• Any subject planning a scheduled surgical procedure during the study

Sponsors & Collaborators

• Children's Hospital of Philadelphia: lead
• Friedreich's Ataxia Research Alliance: collaborator
• Vidara Therapeutics Research Ltd: collaborator

Study Sites (1)

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

MeSH Terms

Conditions

Friedreich Ataxia

Interventions

interferon gamma-1b

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Limitations and Caveats

This study was performed in a small population of children with Friedreich ataxia (n=12) and without a placebo arm.

Results Point of Contact

• Title: David Lynch, MD, PhD
• Organization: Children's Hospital of Philadelphia

lynch@email.chop.edu

215-590-1719

Study Officials

• David Lynch, MD, PhD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 27, 2013
• First Posted: October 18, 2013
• Study Start: August 1, 2013
• Primary Completion: March 1, 2014
• Study Completion: October 1, 2014
• Last Updated: April 13, 2021
• Results First Posted: April 30, 2015

Record last verified: 2021-03

Locations

US (1)