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Micronised Resveratrol as a Treatment for Friedreich Ataxia

Phase 2
Completed
Conditions
Friedreich Ataxia
Interventions
Registration Number
NCT03933163
Lead Sponsor
Murdoch Childrens Research Institute
Brief Summary

The aim of this study is to assess the efficacy of micronised resveratrol as a treatment for FRDA, in terms of reducing the severity of ataxia symptoms at 24 weeks, through a randomised blinded, placebo controlled crossover trial.

Detailed Description

Friedreich ataxia (FRDA) is the most common hereditary ataxia, with an estimated prevalence in Caucasians of 1 in 30,000. Neurological features of FRDA are progressive gait and limb ataxia, absent lower limb reflexes, and loss of position and vibration sense. There are currently no treatments proven to alter the natural history of FRDA. Resveratrol is a naturally occurring compound found in red wine, berries, and nuts. It is postulated to have wide-ranging health benefits, including antioxidant, anticarcinogenic, antidiabetic and neuroprotective properties.

The study will be a double-blinded, placebo-controlled randomised 2-period crossover trial of 2g/day of micronised resveratrol in FRDA over 24 weeks. The study will enrol 40 patients with FRDA from 3 sites. The primary outcome measure is the change in modified Friedreich Ataxia Rating Scale (mFARS) score from baseline to 24 weeks.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
25
Inclusion Criteria
  1. Age ≥16 years.
  2. Diagnosis of FRDA, genetically documented to be due to homozygosity for a GAA repeat expansion in intron 1 of FXN.
  3. Functional stage on the Ataxia subscale of the full FARS of 1 or higher (a score of 1 is assigned if the subject has "Minimal signs detected by the physician during screening. Can run or jump without loss of balance. No disability."), and total mFARS score of ≤ 65.
  4. Adequate end organ function defined as follows: (i) total bilirubin <2x upper limit of normal unless attributable to Gilbert disease, (ii) ALT and AST <1.5x upper limit of normal, (iii) Creatinine <2x upper limit of normal, (iv) neutrophils >1.5x10^9/L, (v) platelets >10^6/μL.
  5. Written informed consent provided.
Exclusion Criteria
  1. Non-elective hospitalisation within the past 60 days that could be of concern in the investigator's judgment. Any hospitalisation in the previous 60 days will be assessed and if in the investigator's judgement it could compromise the individual or the study, that person will not be recruited. Examples include if the individual is hospitalised for management of cardiac morbidity such as uncontrolled arrhythmia or angina or for orthopaedic surgery for a lower limb fracture.
  2. Women who are pregnant or lactating or men and women of childbearing potential who are unwilling to use contraception for the duration of the study.
  3. FRDA due to compound heterozygosity for an expanded GAA repeat and a point mutation/ deletion in the FXN gene.
  4. Current or recent (in last 12 months) arrhythmias including: atrial fibrillation, atrial flutter, sinus tachycardia >120/min, sinus bradycardia <50/min. Symptomatic paroxysmal arrhythmia which is recurring frequently. Cardiac insufficiency (by New York Heart Association >2). Reduced LV ejection fraction (<50%) in the last six months.
  5. Medical illness that in the judgment of the investigator would jeopardise the safe completion of the study. Examples include cancer, chronic inflammatory disease, severe diabetes (type I or II, HbA1c >8%), chronic liver insufficiency, epilepsy, thrombocytosis.
  6. Evidence of end organ dysfunction through failure to meet one or more parameters in inclusion criterion number 4.
  7. Prior invasive cancer (excluding localised basal cell or squamous cell skin cancer).
  8. Known hypersensitivity to resveratrol.
  9. Use of any investigational agent within 30 days of enrolment.
  10. Use of antioxidants such as vitamin E, coenzyme Q10 or idebenone within 30 days prior to enrolment.
  11. Concomitant use of medications with potential for clinically relevant drug interactions. This includes medications with a narrow therapeutic range that are metabolised by the cytochrome P450 3A4, 2D6 or 2C9 systems e.g. warfarin, amiodarone.

Study & Design

Study Type
INTERVENTIONAL
Study Design
CROSSOVER
Arm && Interventions
GroupInterventionDescription
Resveratrol followed by placeboResveratrol1g micronised resveratrol twice daily for 24 weeks, a wash-out period of 4 weeks, followed by twice daily placebo for 24 weeks.
Placebo followed by ResveratrolResveratrolTwice daily placebo for 24 weeks, a wash-out period of 4 weeks, followed by 1g micronised resveratrol twice daily for 24 weeks
Primary Outcome Measures
NameTimeMethod
Modified Friedreich Ataxia Rating Scale24 weeks

Change in the Modified Friedreich Ataxia Rating Scale score (score range 0-99) at 24 weeks compared with baseline. Higher scores are indicative of more severe disease.

Secondary Outcome Measures
NameTimeMethod
Berg Balance Scale24 weeks

Change in the Berg Balance Scale (score range 0-56) at 24 weeks compared with baseline. A higher score indicates lower fall risk.

Friedreich Ataxia Impact Scale24 weeks

Change in the Friedreich Ataxia Impact Scale at 24 weeks compared with baseline. The Friedreich Ataxia Impact Scale comprises 8 subscales (score range 0-100) that are scored independently. A higher score indicates greater impact of Friedreich ataxia on health and well-being.

Modified Fatigue Impact Scale24 weeks

Change in the Modified Fatigue Impact Scale (score range 0-24) at 24 weeks compared with baseline. Higher scores indicate a greater impact of fatigue on an individual's activities.

Nine-Hole Peg Test24 weeks

Change in the Nine-Hole Peg Test at 24 weeks compared with baseline.

Ataxia Instrumented Measure-Spoon24 weeks

Change in the Ataxia Instrumented Measure-Spoon at 24 weeks compared with baseline.

Measures of speech24 weeks

Change in measures of speech (reading a paragraph, produce a prolonged vowel sound for 5 seconds, count from one to 20, and produce a 1-minute monologue on a pre-specified topic) at 24 weeks compared with baseline.

Frataxin levels24 weeks

Change in frataxin levels at 24 weeks compared to baseline.

Measures of hearing24 weeks

Change in measures of hearing using the Listening in Spatialized Noise Test (LiSN-S) at 24 weeks compared with baseline.

Cardiac parameters measured by echocardiography24 weeks

Change in left ventricular global longitudinal strain at 24 weeks compared to baseline.

Cardiac parameters measured by ECG24 weeks

Change in QRS duration at lead V5 at 24 weeks compared to baseline.

Plasma F2-isoprostane levels24 weeks

Change in plasma F2-isoprostane levels at 24 weeks compared to baseline.

mRNA levels24 weeks

Change in PGC-1α mRNA levels and Nrf2 mRNA levels at 24 weeks compared to baseline.

Trial Locations

Locations (4)

Royal North Shore Hospital

🇦🇺

St Leonards, New South Wales, Australia

University of Queensland Centre for Clinical Research

🇦🇺

Herston, Queensland, Australia

Royal Perth Hospital

🇦🇺

Perth, Western Australia, Australia

Murdoch Children's Research Institute

🇦🇺

Parkville, Victoria, Australia

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