Open Trail of γIFN for Friedreich Ataxia

NCT03888664 | Completed Phase 2

• 1 other identifier: EudraCT2015-002432-40
• Study Type: interventional
• Target: 12
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Friedreich Ataxia

Outcome Measures

Primary Outcomes (1)

• number and severity of adverse drug reactions

  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

  12 months

Secondary Outcomes (9)

• Changes in SARA score

  18 months

• change in BOLD signal obtained during the selective motor task (finger tapping)

  18 months

• Changes in RNFL thickness

  12 months

• Thickness of ventricular wall as measured by Ecocardiogram (EcoCG)

  12 months

• - Frataxin levels in cell lysates prepared from peripheral blood mononuclear cells (PBMC)

  12 monhts

Study Arms (1)

FRDA patients treated with gIFN

EXPERIMENTAL

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

Interventions

gamma interferon DRUG

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

Also known as: Imukin 0.1 mg injectable solution

FRDA patients treated with gIFN

Eligibility Criteria

• Age: 10 Years - 40 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• IRCCS Eugenio Medea: lead

MeSH Terms

Conditions

Friedreich Ataxia

Interventions

Interferon-gamma

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Interferons; Cytokines; Intercellular Signaling Peptides and Proteins; Peptides; Amino Acids, Peptides, and Proteins; Macrophage-Activating Factors; Lymphokines; Proteins; Biological Factors

Study Officials

• Andrea Martinuzzi, MD

  IRCCS Eugenio Medea

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: 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

Study Record Dates

• First Submitted: March 10, 2019
• First Posted: March 25, 2019
• Study Start: June 26, 2016
• Primary Completion: December 31, 2017
• Study Completion: December 31, 2017
• Last Updated: February 26, 2020

Record last verified: 2020-02

Data Sharing

• IPD Sharing: Will not share