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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
Intervention Model: Single Group Assignment
Masking: None (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 ]

Secondary Outcome Measures:
  • Clinical (monthly) and biological parameter follow- up ( blood count, [ Time Frame: weekly ]
  • plasma iron, ferritin, transferrin and liver enzymes) [ Time Frame: every months ]

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   (Child, Adult, Senior)
Sexes Eligible for Study:   All
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.
  Contacts and Locations
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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

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

Additional relevant MeSH terms:
Cerebellar Ataxia
Friedreich Ataxia
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinocerebellar Degenerations
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Mitochondrial Diseases
Metabolic Diseases
Iron Chelating Agents
Trace Elements
Growth Substances
Physiological Effects of Drugs
Chelating Agents
Sequestering Agents
Molecular Mechanisms of Pharmacological Action processed this record on September 20, 2017