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Open Trail of γIFN for Friedreich Ataxia

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ClinicalTrials.gov Identifier: NCT03888664
Recruitment Status : Completed
First Posted : March 25, 2019
Last Update Posted : May 1, 2019
Sponsor:
Information provided by (Responsible Party):
Andrea Martinuzzi, IRCCS Eugenio Medea

Brief Summary:

The investigator proposes an open label pilot study to investigate the safety and efficacy of gamma interferon (γIFN) in patients with Friedreich's Ataxia (FRDA). yIFN, an approved drug for treatment of granulomatous disease, has been shown to promote Frataxin expression in FRDA models in vitro and in vivo as well as in pilot human studies.

Safety will monitored by clinical surveillance and biohumoral periodic assessment. Efficacy will be assessed by a combination of advanced neuroimaging techniques and established clinical indicators. The investigators intend to recruit over a 6 months period 12 subject with molecularly established FRDA. The protocol builds on a recently concluded observational study which established the pattern of clinical and neuroimaging abnormalities characterizing a cohort of patients with FA. The data already acquired through such study will constitute the T-6/-12 point, and together with T0 assessment, carried out at study entrance, will provide for each patient the exact appreciation of disease actual progression over a year time. Recruited patients will receive for 6 months yIFN at a final dose of 200 ug/three times a week. Patients will be evaluated clinically after 3 and 6 months (T3 and T6) of treatment and 6 months after treatment end (T+6) and by neuroimaging at T6 and T+6. The neuroimaging protocol, based on 3 Tesla scanner, consists in functional MRI, tractography. The clinical protocol consists on specific ataxia scales administration. Regular monitoring with for eventual adverse events will be provided. Frataxin levels in the peripheral blood mononuclear cells will also be evaluated at T0, T3, T6, T+6. Furthermore, the thickness of the cardiac ventricle and retinal nerve fibre layer (RNFL) thickness with optical coherence tomography (OCT) will be performed at T0, T6, T + 6.


Condition or disease Intervention/treatment Phase
Friedreich Ataxia Drug: gamma interferon Phase 2

  Show Detailed Description

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 12 participants
Intervention Model: Single Group Assignment
Intervention Model Description: 1st 2 weeks: gIFN 100 ugr/three times a week From the 3rd week: gIFN 200 ugr three times a week for the following 22 weeks From the 25th week: no treatment for the following 24 weeks
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Safety and Efficacy of γIFN Treatment in Friedreich Ataxia
Actual Study Start Date : June 26, 2016
Actual Primary Completion Date : December 31, 2017
Actual Study Completion Date : December 31, 2017


Arm Intervention/treatment
Experimental: FRDA patients treated with gIFN
1st 2 weeks: gIFN 100 ugr/three times a week From the 3rd week: gIFN 200 ugr three times a week for the following 22 weeks From the 25th week: no treatment for the following 24 weeks
Drug: gamma interferon
1st two weeks: gIFN 100 ugr/three times a week from the 3rd week: gIFN 200 ugr/ three times a week for the following 22 weeks From the 25th week: no treatment for the following 24 weeks
Other Name: Imukin 0.1 mg injectable solution




Primary Outcome Measures :
  1. number and severity of adverse drug reactions [ Time Frame: 12 months ]
    number of AE and SAE reported by treated patients along the study. Safety of γIFN treatment given for 6 months at final dose of 200 mcg three times weekly in FRDA patients


Secondary Outcome Measures :
  1. Changes in SARA score [ Time Frame: 18 months ]
    changes in scores at the SARA scale assessed at various time points (from 6 moths before treatment start to 6 months after treatment stop) for each patient

  2. change in BOLD signal obtained during the selective motor task (finger tapping) [ Time Frame: 18 months ]
    intensity of BOLD signal in FRDA patients performing the finger tapping protocol at least 6 months prior to treatment start, at treatmenet start, after 6 months of treatment and 6 months after treatment discontinuation

  3. Changes in RNFL thickness [ Time Frame: 12 months ]
    Mean Thickness of RNFL and thickness in the 4 quadrants as resulting from OCT exam

  4. Thickness of ventricular wall as measured by Ecocardiogram (EcoCG) [ Time Frame: 12 months ]
    changes in ventricular and interventricular walls thickness (mm) at various time points for each patient

  5. - Frataxin levels in cell lysates prepared from peripheral blood mononuclear cells (PBMC) [ Time Frame: 12 monhts ]
    changes in Frataxin levels (intensity of frataxin band at western blot) associated with treatment

  6. - Changes in quality of life measure. [ Time Frame: 12 months ]
    scores at SF36 assessed along time in each patient

  7. CHANGES in FA in the cerebellar white matter, the long and the commissural tracts [ Time Frame: 18 months ]
    Fractional anysotropy values at selected ROI as measured at various time points in each patient

  8. Changes in measure of disability [ Time Frame: 12 months ]
    changes in WHO-DAS 2.0 scores recorede along time

  9. Changes in Mean diffusivity (MD) in the cerebellar white matter, the long and the commissural tracts [ Time Frame: 18 months ]
    MD values at selected ROI as measured at various time points in each patient



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Ages Eligible for Study:   10 Years to 40 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion criteria:

  • Molecularly defined FRDA,
  • willingness to participate in the study and signing of the informed consent form.
  • In order to control for the ongoing deterioration associated with the disease, the investigator will recruit only those patients who had been already studied with the MRI protocol and the functional scales indicated below approxymately 12 months before the beginning of the present study.

Exclusion Criteria:

  • presence of any contraindication for MRI study,
  • presence of clinically significant heart, liver or kidney disease or other medically unstable conditions.
  • Known sensitivity to γIFN.
  • Previous exposure to recombinant hematopoietin.
  • Ongoing use of desferiprone or other specific FRDA treatments.
  • Pregnancy or lactation

Information from the National Library of Medicine

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): NCT03888664


Sponsors and Collaborators
IRCCS Eugenio Medea
Investigators
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Principal Investigator: Andrea Martinuzzi, MD IRCCS Eugenio Medea

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Responsible Party: Andrea Martinuzzi, Director of neurorehabilitation department, IRCCS Eugenio Medea
ClinicalTrials.gov Identifier: NCT03888664     History of Changes
Other Study ID Numbers: EudraCT2015-002432-40
First Posted: March 25, 2019    Key Record Dates
Last Update Posted: May 1, 2019
Last Verified: April 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Product Manufactured in and Exported from the U.S.: No
Additional relevant MeSH terms:
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Ataxia
Cerebellar Ataxia
Friedreich Ataxia
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases
Interferons
Interferon-gamma
Antineoplastic Agents
Antiviral Agents
Anti-Infective Agents