Clinical trial NCT01965327: 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
Overall status: COMPLETED
Phase: PHASE2
Conditions: Friedreich Ataxia
Keywords: Friedreich ataxia
Interferon gamma-1b
FRDA
Lead sponsor: Children's Hospital of Philadelphia
Sponsor class: OTHER
Collaborators: name: Friedreich's Ataxia Research Alliance
name: Vidara Therapeutics Research Ltd
First posted: 2013-10-18
Enrollment: 12
Sex: ALL
Minimum age (years): 5
Maximum age (years): 17
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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.

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

Primary outcomes:
measure: Change in Whole Blood Frataxin Levels
timeFrame: Frataxin levels were measured at the beginning and conclusion of treatment (baseline and 12 weeks)
Secondary outcomes:
measure: Change in Total Friedreich Ataxia Rating Scale (FARS) Score
timeFrame: FARS score was calculated at the beginning and conclusion of treatment (baseline and 12 weeks)
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
Study officials:
affiliation: Children's Hospital of Philadelphia
name: David Lynch, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: