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
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|Condition or disease||Intervention/treatment||Phase|
|Friedreich Ataxia||Drug: Interferon Gamma-1b||Phase 2|
• 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.
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.
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||12 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|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|
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.
- 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.
- 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|
- 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
- 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
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
|United States, Pennsylvania|
|Children's Hospital of Philadelphia|
|Philadelphia, Pennsylvania, United States, 19104|
|Principal Investigator:||David Lynch, MD, PhD||Children's Hospital of Philadelphia|
|Responsible Party:||Children's Hospital of Philadelphia|
|Other Study ID Numbers:||
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|
Nervous System Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Genetic Diseases, Inborn