Iron-Chelating Therapy and Friedreich Ataxia

Phase 1

Completed

• Conditions: Friedreich Ataxia
• Interventions: Drug: Iron chelating intervention

• Registration Number: NCT00224640
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief Summary

Friedreich ataxia, an autosomal recessive condition, ascribed to frataxin gene expansion, has been shown to result from an iron- induced injury to the mitochondrial respiratory chain. Buffering free radicals with short-chain quinones (Idebenone) protects the patients against cardiomyopathy but not CNS involvement. Removing CNS iron should limit the impact of the neurological symptoms of the disease.

Detailed Description

The current clinical trial is a monocentric open phase1-2 trial in the context of rare diseases framework, aimed to the goal of defining the tolerance/efficacy of the treatment.

Inclusion criteria: minimum age: 13 years Follow up in the Dept of Genetics, Hospital Necker-Enfants Malades, Paris, France

Study Timeline

• Study Start: 2005-03
• Study First Submitted: 2005-09-16
• Study First Submitted QC: 2005-09-16
• Study First Posted: 2005-09-23
• Status Verified: 2007-03
• Primary Completion: 2008-03
• Study Completion: 2008-03
• Last Update Submitted: 2009-03-03
• Last Update Posted: 2009-03-04

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 15

Inclusion Criteria

1. Minimum age: 13 years
2. Molecular confirmation of frataxin gene mutation
3. Iron overload evaluation
4. Presence of lactate
5. Echography response to Idebenone treatment
6. Urinary test of pregnancy for girls
7. Sexual abstinence for men
8. Information consent

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Exclusion Criteria

1. No disturbance of iron metabolism
2. No response to Idebenone
3. Friedreich not confirmed
4. Polynuclear neutrophils <2 x 109/L or hemoglobin < 8g/dL
5. No participation to other trial
6. Doubt regarding the compliance of the patient to protocol
7. Impossibility to undergo X-ray examination or presence of iron material in the backbone
8. Pregnant women
9. Absence of social insurance.

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
1	Iron chelating intervention	Iron chelating intervention

Primary Outcome Measures

Name	Time	Method
assessment of iron overload at TO and month2 by imagery	at months :0, 1 ,2 ,4 ,6

Secondary Outcome Measures

Name	Time	Method
Clinical (monthly) and biological parameter follow- up ( blood count,	weekly
plasma iron, ferritin, transferrin and liver enzymes)	every months

Trial Locations

Locations (1)

Necker Hospital; 🇫🇷 Paris, France