Iron-Chelating Therapy and Friedreich Ataxia

• Status: Completed
• Trial end date: 2008-03-01
• Target enrollment: 0
• Participant gender: All

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.

• Phase: Phase 1/Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Assistance Publique - Hôpitaux de Paris
• Treatments: Iron; Iron Chelating Agents

Criteria

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

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.