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Interferon Gamma-1b in Friedreich Ataxia (FRDA)

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ClinicalTrials.gov Identifier: NCT01965327
Recruitment Status : Completed
First Posted : October 18, 2013
Results First Posted : April 30, 2015
Last Update Posted : April 13, 2021
Friedreich's Ataxia Research Alliance
Vidara Therapeutics Research Ltd
Information provided by (Responsible Party):
Children's Hospital of Philadelphia

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.

Condition or disease Intervention/treatment Phase
Friedreich Ataxia Drug: Interferon Gamma-1b Phase 2

Detailed Description:

Study Objectives:


• To assess the effect of Interferon Gamma-1b (IFN-g) on increasing frataxin expression and protein in children with FRDA.


  • To assess the effect of IFN-g on neurological outcomes (FARS, performance measures, and hearing) in subjects with FRDA.
  • To assess the effectiveness of IFN-g on quality of life in subjects with FRDA.
  • To assess the safety and tolerability of IFN-g at the currently approved dose in the FRDA population.

Study Phases:

Screening - During screening, subjects will be assessed for inclusion and exclusion criteria.

Intervention - Subjects will begin treatment at baseline visit and the dose of study medication will be increased to the maximum dose over four weeks. The subjects will be maintained at the maximum dose for 8 weeks. After 12 weeks, treatment will stop. Study medication will be administered via subcutaneous injections three times per week for 12 weeks.

Follow-up - Follow-up visits will occur at 7 and 28 days after the subject has completed the 12 weeks of active treatment.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 12 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia (FRDA)
Study Start Date : August 2013
Actual Primary Completion Date : March 2014
Actual Study Completion Date : October 2014

Arm Intervention/treatment
Experimental: Interferon Gamma-1b (ACTIMMUNE)
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

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.

Other Names:
  • Actimmune™
  • IFN-g-1b

Primary Outcome Measures :
  1. Change in Whole Blood Frataxin Levels [ Time Frame: Frataxin levels were measured at the beginning and conclusion of treatment (baseline and 12 weeks) ]
    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.

Secondary Outcome Measures :
  1. Change in Total Friedreich Ataxia Rating Scale (FARS) Score [ Time Frame: FARS score was calculated at the beginning and conclusion of treatment (baseline and 12 weeks) ]
    The Friedreich Ataxia Rating Scale (FARS) is neurological rating scale specifically developed and validated for FRDA. The FARS includes assessments of stance, gait, upper and lower limb coordination, speech, proprioception and strength. In addition to the standard neurological examination, the FARS contains three quantitative performance measures and a component that assesses activities of daily living (ADL). Quantitative performance measures include the nine-hole peg test, and a timed 25-foot walk. FARS scores correlate significantly with functional disability, activities of daily living scores and disease duration. The scores from the three subscales are added to generate a total score ranging from 0 to 159, with a higher score indicating a greater level of disability.

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Ages Eligible for Study:   5 Years to 17 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01965327

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United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Sponsors and Collaborators
Children's Hospital of Philadelphia
Friedreich's Ataxia Research Alliance
Vidara Therapeutics Research Ltd
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Principal Investigator: David Lynch, MD, PhD Children's Hospital of Philadelphia
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Responsible Party: Children's Hospital of Philadelphia
ClinicalTrials.gov Identifier: NCT01965327    
Other Study ID Numbers: 13-010121
13-010121 ( Other Identifier: Children's Hospital of Philadelphia )
First Posted: October 18, 2013    Key Record Dates
Results First Posted: April 30, 2015
Last Update Posted: April 13, 2021
Last Verified: March 2021
Keywords provided by Children's Hospital of Philadelphia:
Friedreich ataxia
Interferon gamma-1b
Additional relevant MeSH terms:
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Cerebellar Ataxia
Friedreich Ataxia
Neurologic Manifestations
Nervous System Diseases
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases
Antineoplastic Agents
Antiviral Agents
Anti-Infective Agents