Launching of a clinical trial for adult patients suffering from adrenomyeloneuropathy

Written on Wednesday 24 July 2013

Thanks to the collaboration of the Assistance publique des hôpitaux de Paris (AP-HP), Dr. Aurora Pujol and the IDIBELL Foundation, a clinical trial amounting to 400 000 €, entirely funded by ELA, will be shortly launched at the Bicetre Hospital (France) for the treatment of adrenomyeloneuropathy (AMN). The recent discoveries from Dr. Pujol have shown pioglitazone could improve the motor deficits observed in the ALD mouse. The results obtained justify evaluating this drug in AMN patients.

Remember! In January 2012 was held in Paris (France) the 1st scientific symposium for AMN, the adult form of adrenoleukodystrophy. Organized at the initiative of ELA in collaboration with the American Stop ALD foundation, this meeting gathered around twenty international experts who identified new potential therapies for this incurable disease. Now, the research work performed by Dr. Aurora Pujol in Spain allowed identifying pioglitazone, a drug manufactured as Actos® (Takeda Pharmaceutical Laboratory), as a promising treatment. A clinical trial will be soon launched with Pr. Patrick Aubourg, head of the reference center for leukodystrophies at the Bicetre Hospital and of a Inserm research laboratory, as the principal investigator. The trial, called “Pioglitazone in adrenomyeloneuropathy” received the authorization from the French Medicine Agency and IRB to start treating adult patients.

What is it? Adrenomyeloneuropathy is a rare genetic disease due to a defect in a gene called ABCD1. This gene is essential for the degradation of some fatty acids in the body. In AMN, the fatty acid accumulation in nerve cells induces harmful oxidative stress and impairments in the mitochondria, an important energy generator for cells. In the end, the nerve signal is altered and the patient progressively loses his balance and motor function.  No current therapy can halt the progress of adrenomyeloneuropathy.

The treatment Pioglitazone is a drug known to reduce oxidative stress in the body and to stimulate normal mitochondrial functions. After six weeks of treatment, mitochondrial impairments are corrected in the sick mice. Also, the progression of motor deficits is stopped in all the treated mice two to four months after the therapy. During the trial, patients will take a pioglitazone pill daily (30 mg/day) during two years.

Goals of the trial The trial will evaluate the efficacy and tolerance of pioglitazone in AMN patients for 2 years. Patients will be admitted to the hospital for 2-3 days every 6 months. Efficacy means the possibility that this treatment slows or halts the motor deficits in the lower limbs that naturally occurs without treatment. It will be estimated by motor and biological tests as well as neuroimaging. Tolerance means the absence of adverse events during the treatment and will be assessed by clinical examinations (electrocardiogram and echocardiogram) and biological tests (blood and urinary analysis).

 What are the risks? Each drug intake comes with a risk. The time of pioglitazone exposition was shown to be correlated to the risk of bladder cancer in aged diabetic patients treated for more than 2 years (risk lower to 6 out of 10 000 cases). In order to avoid this risk, the urinary test needs to be normal at the time of inclusion. This test will be repeated every 6 months as well as in the safety follow-up.

How to get enrolled Thirty AMN patients, between 18 to 65 years old and from France, could participate to the study if they can walk 6 minutes with one single walking stick (or without it) and meet specific criteria. The trial will be conducted at the Bicetre Hospital.

Patients can get in touch with Pr. Aubourg and Dr. Bellesme, both in charge of the trial, at the following phone numbers: +33 1 45 21 31 63 or +33 1 45 21 78 62 or by e-mail : or

To get information about the clinical trial, please contact Carine Cormary (, +33 1 71 72 28 01). To get additional information about the ELA association and the services offered to the families, contact Cindy Oger, our families’ support manager (, +33 3 83 30 82 63).

Learn more about the trial