Iron-Chelating Therapy and Friedreich Ataxia

This study has been completed.
Information provided by:
Assistance Publique - Hôpitaux de Paris Identifier:
First received: September 16, 2005
Last updated: March 3, 2009
Last verified: March 2007
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.

Condition Intervention Phase
Friedreich Ataxia
Drug: Iron chelating intervention
Phase 1
Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Effect of Iron-Chelating Therapy in Friedreich Ataxia. Study Phase I/II

Resource links provided by NLM:

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • assessment of iron overload at TO and month2 by imagery [ Time Frame: at months :0, 1 ,2 ,4 ,6 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Clinical (monthly) and biological parameter follow- up ( blood count, [ Time Frame: weekly ] [ Designated as safety issue: No ]
  • plasma iron, ferritin, transferrin and liver enzymes) [ Time Frame: every months ] [ Designated as safety issue: Yes ]

Enrollment: 15
Study Start Date: March 2005
Study Completion Date: March 2008
Primary Completion Date: March 2008 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: 1
Iron chelating intervention
Drug: Iron chelating intervention
Iron chelating intervention

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


Ages Eligible for Study:   13 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

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.
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Please refer to this study by its identifier: NCT00224640

Necker Hospital
Paris, France, 75015
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Principal Investigator: Arnold MUNNICH, Pr,MD,PhD Assistance Publique - Hôpitaux de Paris
  More Information

Responsible Party: Amel Ouslimany, Department Clinical Research of Developpement Identifier: NCT00224640     History of Changes
Other Study ID Numbers: P041201  PCR 05001 
Study First Received: September 16, 2005
Last Updated: March 3, 2009
Health Authority: France: Ministry of Health

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Iron-chelating treatment

Additional relevant MeSH terms:
Cerebellar Ataxia
Friedreich Ataxia
Brain Diseases
Central Nervous System Diseases
Cerebellar Diseases
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Metabolic Diseases
Mitochondrial Diseases
Nervous System Diseases
Neurodegenerative Diseases
Neurologic Manifestations
Signs and Symptoms
Spinal Cord Diseases
Spinocerebellar Degenerations
Iron Chelating Agents
Chelating Agents
Growth Substances
Molecular Mechanisms of Pharmacological Action
Physiological Effects of Drugs
Sequestering Agents
Trace Elements processed this record on May 30, 2016