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Interferon Gamma-1b in Friedreich Ataxia (FRDA)

Primary Purpose

Friedreich Ataxia

Status
Completed
Phase
Phase 2
Locations
United States
Study Type
Interventional
Intervention
Interferon Gamma-1b
Sponsored by
Children's Hospital of Philadelphia
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Friedreich Ataxia focused on measuring Friedreich ataxia, Interferon gamma-1b, FRDA

Eligibility Criteria

5 Years - 17 Years (Child)All SexesDoes not accept healthy volunteers

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

Sites / Locations

  • Children's Hospital of Philadelphia

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Interferon Gamma-1b (ACTIMMUNE)

Arm Description

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.

Outcomes

Primary Outcome Measures

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.

Secondary Outcome Measures

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

Full Information

First Posted
August 27, 2013
Last Updated
March 23, 2021
Sponsor
Children's Hospital of Philadelphia
Collaborators
Friedreich's Ataxia Research Alliance, Vidara Therapeutics Research Ltd
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1. Study Identification

Unique Protocol Identification Number
NCT01965327
Brief Title
Interferon Gamma-1b in Friedreich Ataxia (FRDA)
Official Title
Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia (FRDA)
Study Type
Interventional

2. Study Status

Record Verification Date
March 2021
Overall Recruitment Status
Completed
Study Start Date
August 2013 (undefined)
Primary Completion Date
March 2014 (Actual)
Study Completion Date
October 2014 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Children's Hospital of Philadelphia
Collaborators
Friedreich's Ataxia Research Alliance, Vidara Therapeutics Research Ltd

4. Oversight

Data Monitoring Committee
Yes

5. Study Description

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.
Detailed Description
Study Objectives: Primary: • To assess the effect of Interferon Gamma-1b (IFN-g) on increasing frataxin expression and protein in children with FRDA. Secondary: 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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Friedreich Ataxia
Keywords
Friedreich ataxia, Interferon gamma-1b, FRDA

7. Study Design

Primary Purpose
Treatment
Study Phase
Phase 2
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
12 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Interferon Gamma-1b (ACTIMMUNE)
Arm Type
Experimental
Arm Description
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.
Intervention Type
Drug
Intervention Name(s)
Interferon Gamma-1b
Other Intervention Name(s)
Actimmune™, IFN-g-1b
Intervention Description
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.
Primary Outcome Measure Information:
Title
Change in Whole Blood Frataxin Levels
Description
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.
Time Frame
Frataxin levels were measured at the beginning and conclusion of treatment (baseline and 12 weeks)
Secondary Outcome Measure Information:
Title
Change in Total Friedreich Ataxia Rating Scale (FARS) Score
Description
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.
Time Frame
FARS score was calculated at the beginning and conclusion of treatment (baseline and 12 weeks)

10. Eligibility

Sex
All
Minimum Age & Unit of Time
5 Years
Maximum Age & Unit of Time
17 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
David Lynch, MD, PhD
Organizational Affiliation
Children's Hospital of Philadelphia
Official's Role
Principal Investigator
Facility Information:
Facility Name
Children's Hospital of Philadelphia
City
Philadelphia
State/Province
Pennsylvania
ZIP/Postal Code
19104
Country
United States

12. IPD Sharing Statement

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Interferon Gamma-1b in Friedreich Ataxia (FRDA)

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