Friedreich's AtaxiaPhase 2NCT00631202
Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia
A Phase 2 study testing Epoetin alfa in people with Friedreich's Ataxia, run by Federico II University at 1 site in Italy.
Trial summary
Friedreich's ataxia is a rare genetic disorder characterized by severe neurological disability and cardiomyopathy. Friedreich's ataxia is the consequence of frataxin deficiency. Although several drugs have been proposed, there is no available treatment. Read more about this study
- Who is it for?
- Ages 18 to 50 years
- Conditions the study is for
- Friedreich's Ataxia
- What is being tested?
- Epoetin alfa
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteItaly
- Study dates
- Feb 2008to Jun 2009
- Phase
- Phase 2
- Are there results?
- None posted in the registry
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 18 to 50 years
- All sexes
- No healthy volunteers
- Adult
Who may be able to join
- Molecular diagnosis of FA based on a homozygous GAA expansion within the FRDA with a triplet repeat sequence in the pathological range.
- Age >18, <50 years
Who cannot join
- Failure to meet one of the inclusion criteria
- Patients in treatment with Idebenone
- Wheelchair bound patients
- Significant renal, hepatic or haematological disease
- Positive history for arterial or venous thrombosis
- Acute diseases that might interfere with the study
Show all 10Show fewer
- Positive history for arterial hypertension
- Present or programmed pregnancy
- Known hypersensitivity to study drug
- Other unacceptable concomitant medications (in particular agents thought to have a neuroprotective potential as tocopherol, amantadine, memantine, free radical scavengers).
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Single-Center, Open-Label, Sequential Trial to Test the Efficacy, Safety and Tolerability of Epoetin Alfa in Patients With Friedreich's Ataxia
Friedreich's ataxia is a rare genetic disorder characterized by severe neurological disability and cardiomyopathy. Friedreich's ataxia is the consequence of frataxin deficiency. Although several drugs have been proposed, there is no available treatment. It was recently demonstrated that erythropoietin can increase the intracellular levels of frataxin in an in-vitro model.
The present project is aimed at testing the possible therapeutic approach of erythropoietin, which is an already available and commercialized drug. The investigators will perform both in-vitro and in-vivo tests, in order to asses its efficacy and safety in patients. The results will be useful to plan further clinical trials.
Read the detailed description
Friedreich ataxia (FRDA) is an inherited recessive disorder characterized by progressive neurological disability. FRDA is the consequence of frataxin deficiency. Although several drugs have been proposed for FRDA, there is no available treatment. Recently it was shown that recombinant human erythropoietin (rhu-EPO) administration increases frataxin expression in cultured human lymphocytes of FRDA patients. It is therefore of primary importance to test extensively rhu-EPO's ability in increasing frataxin levels in-vitro and in-vivo. In addition rhu-EPO is an already available and commercialized drug approved for the treatment of anaemia associated with chronic renal disease, heart failure and cancer. Towards this overall purpose, we will perform an acute clinical trial in FRDA patients with rhu-EPO and will assess its effect in-vivo on frataxin expression. In addition, rhu-EPO's safety in FRDA patients based on laboratory parameters and neurological indexes will be tested. The results will be useful to gain new insight in the role of rhu-EPO in FRDA, and in the future, it may be useful to plan further clinical trials.
- Conditions
- Friedreich's Ataxia
- Being tested
- Epoetin alfa
- Keywords
- FRDA, Erythropoietin, Epoetin alfa
- Medical subject headings
- Friedreich Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Epoetin alfaDrug
Also called Eprex 40.000 IU
Patients that will satisfy all inclusion/exclusion criteria will be sequentially treated with three single Epoetin alfa administrations. The first time the dose will be 600U/KG BW s.c. in a single administration. The outcome measures will be assessed. A washout period of 1 month will be necessary to eliminate any carry-over effect. A second administration of 1200U/KG BW s.c. will be performed. Outcome measures will be again assessed.
| Study group | Role | What they receive |
|---|---|---|
| I | Experimental | Treatment arm Receives: Drug: Epoetin alfa |
What is being measured
The primary outcome is the main question the study is designed to answer.
Primary endpoint will be the frataxin level in PBMCs from patients at different timing from a single Epoetin alfa administration.
Measured: 0, 24, 48, 96 hours; 7, 15, 30, 60 days
Secondary outcomes (3)
Echocardiography: Strain and strain rate after EPO administration at the highest study dose
Measured: 0, 30 days
Safety laboratory parameters, adverse events and tolerability
Measured: 0, 7, 15, 30, 60 days
International cooperative ataxia rating scale (ICARS).
Measured: 0, 7, 30 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Mar 2008 (estimated)
- Study startFeb 2008
- Primary completionDec 2008
- Study completionJun 2009
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Friedreich's AtaxiaStudies of the same condition, open and under way.
- More trials run by Federico II UniversityThe 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
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Federico II University
- Sponsor type
- University, hospital or other
- Investigators
- Alessandro Filla, MD, Study director, Dipartimento di Scienze Neurologice, University "Federico II" Naples
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00631202
- Sponsor's protocol ID
- FA_EPO_3
- Status last verified
- May 2010
- First submitted
- 28 Feb 2008
- Last updated
- 27 May 2010
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 May 2010. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Single-Center, Open-Label, Sequential Trial to Test the Efficacy, Safety and Tolerability of Epoetin Alfa in Patients With Friedreich's Ataxia
- ClinicalTrials.gov ID
- NCT00631202
- Acronym / sponsor ID
- FA_EPO_3
- Conditions
- Friedreich's Ataxia
- Keywords
- FRDA, Erythropoietin, Epoetin alfa
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- Federico II UniversityUniversity, hospital or other
- Study start
- Feb 2008
- Primary completion
- Dec 2008 (actual)
- Study completion
- Jun 2009 (actual)
- First posted
- 7 Mar 2008 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Friedreich's ataxia is a rare genetic disorder characterized by severe neurological disability and cardiomyopathy. Friedreich's ataxia is the consequence of frataxin deficiency. Although several drugs have been proposed, there is no available treatment. It was recently demonstrated that erythropoietin can increase the intracellular levels of frataxin in an in-vitro model.
The present project is aimed at testing the possible therapeutic approach of erythropoietin, which is an already available and commercialized drug. The investigators will perform both in-vitro and in-vivo tests, in order to asses its efficacy and safety in patients. The results will be useful to plan further clinical trials.
Detailed description
Friedreich ataxia (FRDA) is an inherited recessive disorder characterized by progressive neurological disability. FRDA is the consequence of frataxin deficiency. Although several drugs have been proposed for FRDA, there is no available treatment. Recently it was shown that recombinant human erythropoietin (rhu-EPO) administration increases frataxin expression in cultured human lymphocytes of FRDA patients. It is therefore of primary importance to test extensively rhu-EPO's ability in increasing frataxin levels in-vitro and in-vivo. In addition rhu-EPO is an already available and commercialized drug approved for the treatment of anaemia associated with chronic renal disease, heart failure and cancer. Towards this overall purpose, we will perform an acute clinical trial in FRDA patients with rhu-EPO and will assess its effect in-vivo on frataxin expression. In addition, rhu-EPO's safety in FRDA patients based on laboratory parameters and neurological indexes will be tested. The results will be useful to gain new insight in the role of rhu-EPO in FRDA, and in the future, it may be useful to plan further clinical trials.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| I | Experimental | Drug: Epoetin alfaTreatment arm |
Who may qualify
- Ages
- 18 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (2 listed)
- Molecular diagnosis of FA based on a homozygous GAA expansion within the FRDA with a triplet repeat sequence in the pathological range.
- Age >18, <50 years
Key exclusion criteria (10 listed)
- Failure to meet one of the inclusion criteria
- Patients in treatment with Idebenone
- Wheelchair bound patients
- Significant renal, hepatic or haematological disease
- Positive history for arterial or venous thrombosis
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 |
|---|---|---|
| Epoetin alfaAlso: Eprex 40.000 IUPatients that will satisfy all inclusion/exclusion criteria will be sequentially treated with three single Epoetin alfa administrations. The first time the dose will be 600U/KG BW s.c. in a single administration. The outcome measures will be assessed. A washout period of 1 month will be necessary to eliminate any carry-over effect. A second administration of 1200U/KG BW s.c. will be performed. Outcome measures will be again assessed. | Drug | I |
Primary outcome
Primary endpoint will be the frataxin level in PBMCs from patients at different timing from a single Epoetin alfa administration.
Time frame: 0, 24, 48, 96 hours; 7, 15, 30, 60 days
3 secondary outcomes
Echocardiography: Strain and strain rate after EPO administration at the highest study dose
Time frame: 0, 30 days
Safety laboratory parameters, adverse events and tolerability
Time frame: 0, 7, 15, 30, 60 days
International cooperative ataxia rating scale (ICARS).
Time frame: 0, 7, 30 days
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 May 2010.
- Italian Ataxia associationLink provided by the sponsor.
- University Federico II ClinicsLink provided by the sponsor.
- University Federico II - NaplesLink provided by the sponsor.
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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.
Alessandro Filla, MD study director
Dipartimento di Scienze Neurologice, University "Federico II" Naples
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 Epoetin alfa in people with Friedreich's Ataxia, run by Federico II University at 1 site in Italy.
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 2 inclusion and 10 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 27 May 2010. 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 Italy. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Primary endpoint will be the frataxin level in PBMCs from patients at different timing from a single Epoetin alfa administration. (time frame: 0, 24, 48, 96 hours; 7, 15, 30, 60 days). 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 27 May 2010.