Launch of a clinical trial for adult patients suffering from adrenomyeloneuropathy

Written on Friday 4 July 2014

Thanks to the generosity of our donors, we are happy to announce the launch of a new clinical trial completely funded by ELA for 800,000 Euros to evaluate the effects of a new molecule on patients suffering from adrenomyeloneuropathy (AMN).

Dr Frederic Sedel’s research work to which ELA contributed led to the identification of the MD1003 molecule as a promising treatment for progressive multiple sclerosis. Certain preliminary results on adrenomyeloneuropathy (AMN) paved the way for a new clinical trial testing the effects of MD1003 on AMN which will soon be starting.

What is this about? Adrenomyeloneuropathy is a rare genetic illness due to the loss of function of the ABCD1 gene. Basically this gene is essential for the degradation of certain fatty acids in the organism and simply becomes defective. The problem is that a build-up of these fatty acids in the nerve cells causes very harmful oxidative stress  and anomalies in the mitochondria, important generators of energy for the cells. The end result is that the nerve signal is disturbed and patients progressively lose balance and their motor functions. Currently there are no treatments capable of stopping the progression of adrenomyeloneuropathy.

The treatment. Recently preliminary data showed that the MD1003 drug could stop the progression of the illness in patients with progressive multiple sclerosis and improve their symptoms. Among the twenty-three patients suffering from progressive multiple sclerosis treated over an average period of nine months with the MD1003 drug, twenty-one were improved. The positive effects of the drug could be linked to an increase in energy production in the demyelinated neurons and a stimulation of myelin repair. Two clinical trials involving 250 patients with progressive multiple sclerosis are being run currently with the aim of attempting to confirm the previous results. There are certain similarities between adrenomyeloneuropathy (AMN) and progressive multiple sclerosis including a secondary energy impairment which leads to progressive axonal degeneration. A patient with AMN was treated with the MD1003 drug for five months and showed clinical improvement comparable to the effects observed for progressive multiple sclerosis.
For the means of the trial, the patients will be initially divided into two groups. A third of them will be given a placebo and the other two thirds the MD1003 drug. The placebo study will last 12 months and will be followed by a 12-months extension phase where all the patients will be given the drug.

Aims of the trial It will enable scientists to evaluate the effectiveness of the MD1003 drug in comparison with the placebo at the clinical level (walking tests) and to evaluate how patients with AMN tolerate the drug over a two year period. To do this, patients will be hospitalized one or two days for scheduled visits during the trial (every three months the first year and every six months in the second year). By effectiveness, the researchers mean stopping or slowing the lower limbs’ motor functions worsening occuring inevitably without treatment. Motor and neuroradiological tests will be performed along with biological analyses. Patients’ quality of life will be evaluated with auto-questionnaires. By tolerance, the researchers mean the absence of side effects for patients taking the treatment. This will be checked with clinical (electrocardiogram) and biological (blood work) tests.

What are the risks? There is a risk involved in taking any medication but no specific risks are expected with MD1003. However like any new product which has yet to be widely prescribed, any side-effects remain unknown.

How to get enrolled? Around thirty male patients with AMN between the ages of 18 and 60 who can walk for two minutes unaided or with one or two sticks and who comply with certain criteria will be recruited for the trial in France. The trial will be conducted at two hospitals in the Paris region – Professor Patrick Aubourg at the Bicêtre hospital and Dr Yann Nadjar at the Pitie-Salpêtriere Hospital. Two other centres in Germany and Spain will also be taking part in the trial. A total of sixty male patients will be recruited for the trial.

Please contact Professor Jean-François Dhainaut by e-mail ( and/or telephone (+33 6 75 42 42 07) for more details of the trial and to find out if you may be able to participate to the trial.

You can also contact Mrs. Cindy Oger, head of the ELA association’s Family Support Department by e-mail ( and/or by telephone (+33 3 83 30 82 63) for support with daily life if you are selected to take part in the trial.