A double-blind, randomized, placebo-controlled trial to test the efficacy, safety and tolerability of Dimethyl Fumarate in Friedreich Ataxia (DMF-FA-201).

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: 40

Inclusion Criteria

Molecular diagnosis of Friedreich Ataxia with a homozygous GAA expansion, Age =12 years, Body weight =30 Kg, Patients able to read and sign the informed consent

Exclusion Criteria

Treatment with DMF in the previous 12 months, Positive history of alcohol or drug abuse in the past 2 years, except for medical use of cannabis, Hypersensitivity to DMF or any other component of the study drug, Patients not able to comply with the study, For female patients (Sexually not active, hysterectomized, sterilized, menopause patients are excluded from the following criteria): - Pregnancy, or - Breastfeeding, or - Inadequate contraception, Treatment with Idebenone, coenzyme Q10, or any other vitamin supplements in the previous 30 days, Patients in treatment with any other not allowed drug, Any Cardiac and/or Renal and/or Hepatic disease judged as clinically significant by the investigator (any abnormal and clinically non significant cardiac disease associated with Friedreich Ataxia is not an exclusion criteria), Any clinically significant ECG abnormalities that may interfere with the study, Any abnormal and clinically significant laboratory exams at screening visit that may interfere with the trial, Any acute disease that could interfere with the study, as judged by the investigator, Patient positive to the Human Immunodeficiency Virus (HIV) or Hepatitis B or C test, Patients with a positive history of neoplasia, with the only exception of a completely excided basal cell carcinoma

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: To test the effect of DMF on FXN transcription and frataxin protein in FRDA patients.;Secondary Objective: To test the effect of DMF on the nrf2 pathway, on mitochondrial biogenesis, safety and tolerability, and clinical aspects of the disease.;Primary end point(s): The effect of DMF compared to placebo on one of two co-primary endpoints (achievement of one out of two is a positive result): FXN gene expression and frataxin protein level. For both we will consider the change from baseline to 12 weeks (core phase of the DMF-FA-201 study).

Secondary Outcome Measures