Friedreich AtaxiaPhase 2NCT01965327
Interferon Gamma-1b in Friedreich Ataxia (FRDA)
A Phase 2 study testing Interferon Gamma-1b in people with Friedreich Ataxia, run by Children's Hospital of Philadelphia at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 5 to 17 years
- Conditions the study is for
- Friedreich Ataxia
- What is being tested?
- Interferon Gamma-1b
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 12 participants
- Where
- 1 siteUnited States
- Study dates
- Aug 2013to Oct 2014
- Phase
- Phase 2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
About this study
Official title: Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia (FRDA)
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.
Read the 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.
- Conditions
- Friedreich Ataxia
- Being tested
- Interferon Gamma-1b
- Keywords
- Friedreich ataxia, Interferon gamma-1b, FRDA
- Medical subject headings
- Friedreich Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Interferon Gamma-1bDrug
Also called Actimmune™, IFN-g-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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Drug: Interferon Gamma-1b |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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
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.
Measured: FARS score was calculated at the beginning and conclusion of treatment (baseline and 12 weeks)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Oct 2013 (estimated)
- Study startAug 2013
- Primary completionMar 2014
- Study completionOct 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Friedreich AtaxiaStudies of the same condition, open and under way.
- More trials run by Children's Hospital of PhiladelphiaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 12 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Philadelphia
- Sponsor type
- University, hospital or other
- Collaborators
- Friedreich's Ataxia Research Alliance, Vidara Therapeutics Research Ltd
- Responsible party
- Sponsor
- Investigators
- David Lynch, MD, PhD, Principal investigator, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01965327
- Sponsor's protocol ID
- 13-010121
- Other IDs
- 13-010121
- Status last verified
- Mar 2021
- First submitted
- 27 Aug 2013
- Last updated
- 13 Apr 2021
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 13 Apr 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia (FRDA)
- ClinicalTrials.gov ID
- NCT01965327
- Acronym / sponsor ID
- 13-010121
- Conditions
- Friedreich Ataxia
- Keywords
- Friedreich ataxia, Interferon gamma-1b, FRDA
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 12 participants (actual)
- Lead sponsor
- Children's Hospital of PhiladelphiaUniversity, hospital or other
- Collaborators
- Friedreich's Ataxia Research Alliance, Vidara Therapeutics Research Ltd
- Study start
- Aug 2013
- Primary completion
- Mar 2014 (actual)
- Study completion
- Oct 2014 (actual)
- First posted
- 18 Oct 2013 (estimated)
- Results
- Posted 30 Apr 2015
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Interferon Gamma-1b (ACTIMMUNE) | Experimental | Drug: Interferon Gamma-1bAll 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. |
Who may qualify
- Ages
- 5 to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (8 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Interferon Gamma-1bAlso: Actimmune™, IFN-g-1bSubjects 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. | Drug | Interferon Gamma-1b (ACTIMMUNE) |
Primary outcome
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.
1 secondary outcome
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)
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Apr 2021.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
David Lynch, MD, PhD principal investigator
Children's Hospital of Philadelphia
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Interferon Gamma-1b in people with Friedreich Ataxia, run by Children's Hospital of Philadelphia at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Apr 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 30 Apr 2015). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Whole Blood Frataxin Levels (time frame: Frataxin levels were measured at the beginning and conclusion of treatment (baseline and 12 weeks)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Apr 2021.