Iron-Chelating Therapy and Friedreich Ataxia

Assistance Publique - Hôpitaux de Paris

Status and phase: Completed; Phase 2; Phase 1

Conditions: Friedreich Ataxia

Treatments: Drug: Iron chelating intervention

Study type: Interventional

Funder types: Other

Identifiers

NCT00224640

P041201

PCR 05001

Details and patient eligibility

About

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.

Full 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

Enrollment: 15 patients

Sex: All

Ages: 13+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Treatment

Allocation: Non-Randomized

Interventional model: Single Group Assignment

Masking: None (Open label)

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15 participants in 1 patient group

1

Experimental group

Description:

Iron chelating intervention

Treatment:

Drug: Iron chelating intervention