Research Update: News from ELA conference

2nd April 2015

ELA conference
Sara and Karen travelled to Paris this weekend to attend the ELA conference and families meeting.
Important updates for our services users are as follows:
Patrick Aubourg reported on the MD-1003 study in France, Germany and Spain. MD-1003 is essentially a high dose of biotin, a vitamin of the B complex which is involved in the synthesis of fatty acids and glucose. More information on this and other trials can be found at
Patrick also reported that, according to his research, at least 50% of men with AMN will have white spots on their MRI scans BUT, of these, half will suffer no impact and half go on to suffer cerebral ALD. Therefore it is strongly recommended that all AMN men have annual MRI scans. He also reported that 19 adult patients have had bone marrow transplant in Europe, and that this has been as successful as the treatment is in young boys in those cases spotted early enough.
Patrick also stated that active physical exercise developed with your physiotherapist is essential from first diagnosis and will aid some recovery; although somewhat painful and difficult at first, the resulting improvement should prove worthwhile.
In addition, it was noted that female AMN sufferers tend to report more pain and fatigue than male sufferers and it was agreed that more work needs to be done with regard to female symptoms and treatment. It was also explained that trials are usually separated into male and female only studies due to the differing symptoms experienced.
Asif Paker provided an update on the Starbeam Study, using data from their beta-thalassemia study as proof that gene therapy offers a  cure and there is much hope in this treatment. It was noted that gene therapy can only be effective in patients with cerebral involvement and is not suitable for AMN patients.
A further potential clinical trial highlighted was EPI-743 (derived from vitamin E) by Enrico Bertini. After successful treatment on another rare disorder, Leigh Syndrome – see – it is thought that there is a good potential for treatment of ALD with EPI-743 as oxidative stress is thought to play an important role in the pathophysiology of ALD
 ELA conference families

Sara and Karen were also introduced to Dr Marc Engelen from the Netherlands who is heavily involved with ALD research and treatments and put on their “patient liaison” hats to offer help to a Portuguese family who were also struggling with an agenda mainly in French!
We’d like to take this opportunity to thank ELA for another wonderful and informative conference and their work on behalf of leukodystrophy sufferers.

Image: Association ELA, Flickr


20 hours ago

ALD Life

Emory University is looking for families in Georgia with individuals who were diagnosed through newborn screening with ALD, as part of efforts to include ALD in the Georgia newborn screening panel. Participants would be speaking with Emory University via phone or email at their convenience. If you would like to give your input, please reach out to Dawn Laney with Emory University at or ‪404-778-8518‬. ...

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