1st Symposium on Adrenomyeloneuropathy

Written on Friday 31 August 2012

Around twenty experts specializing in leukodystrophies and other neurodegeneratives diseases like multiple sclerosis, Parkinson’s disease, Alzheimer’s disease and amyotrophic lateral sclerosis met on January 13th and 14th 2012 in Paris at the first symposium on adrenomyeloneuropathy (AMN) organized by the ELA association in collaboration with the Stop ALD foundation.

As well as these experts, representatives of patients also attended the symposium as observers. Discussion was thus enriched by short exchanges between patients and experts.

The aim of the symposium was to identify new therapeutic approaches for adrenomyeloneuropathy, the adult form of adrenoleukodystrophy, for which there are currently few therapeutic options available and to particularly focus on the therapeutic tests which ELA is funding.

Guy Alba, the president and founder of the ELA association, and Amber Salzman, president of the Stop ALD foundation, first thanked those present for taking part and then reiterated the aim of the symposium.

Professor Patrick Aubourg next described the disease’s clinical, genetic, physiopathological and radiological aspects and Aurora Pujol presented the characteristics of the animal model for adrenomyeloneuropathy.

Basic knowledge about the disease was first discussed and then the symposium continued in the form of work groups focussing on adrenomyeloneuropathy without cerebral damage. Guy Alba and Amber Salzman acted as moderators for these groups.

The three following themes were discussed;

  • anti-oxydative strategies for AMN,
  • agents which target the function, protection and/or axonal repair for AMN,
  • tools and clinical tests aimed at providing effective clinical evaluation of AMN.

To move away from more classical over-formal scientific presentations, the symposium format was set up so as to facilitate informal discussions between experts and the sharing of opinions.

“Anti-oxydative strategies for AMN” work group

This work group concentrated on the identification of the most promising molecules to fight oxydative stress – both anti-oxydants or agents which target the mitochondrial function – tested for other neurodegenerative diseases than AMN.

When the toxicology of these molecules for humans was known this was discussed. The group also studied the biological targets of these agents, their specific features, time course of drug action in the organism, their ability to cross the blood-brain barrier and the risks of toxicity involved in using heavy dose. There was also discussion of the right dose to give human patients as based on effective doses given to animals.

Finally the possibility of additive effects resulting from the combination of different molecules was discussed.

“Agents which target the function, protection and/or axonal repair for AMN” work group

This session was based on the antioxydants work group and dealt with axonal, and therefore nerve, problems. It dealt with new drugs which are either available or being developed as treatments for other neurodegenerative diseases and which help increase the axonal function and improve patients’ mobility.

“Tools and clinical tests aimed at providing effective clinical evaluation of AMN” work group

The choice of clinical and biological tests is crucial for the successful evaluation of a treatment’s effects on diseases which develop slowly like adrenomyeloneuropathy without cerebral damage.

The group agreed that clinical tests for patients need to be simple. The endurance test involving a 6-minute walk was cited as a reference. Biological markers could also be measured as far as is reasonable.

Different evaluation scales will need to be measured during the test including scales of pain, tiredness, motricity and quality of life.

Female carriers of the gene responsible for the illness will be able to take part in therapeutic tests as well as male patients with AMN who have previously received a bone marrow transplant. Patients will be able to continue taking their medicines to treat their illness unless these interfere with the drug being tested.

To sum up, the 1st symposium on adrenomyeloneuropathy highlighted different therapeutic ideas which were then presented and discussed at the round table at the 2012 ELA conference for families and researchers at the end of March.

Before launching therapeutic testing, it is essential to study the different compounds, their side-effects, availability on the market and regulatory processes as well as the technical ability and expertise of the medical teams running such tests.

The ELA association has set the following conditions for funding therapeutic testing:

  • tests must use simple clinical tests,
  • testing should not last longer than two years and an a minima intermediate evaluation should take place after 1 year,
  • tests will not use placebos,
  • those running tests will need to obtain all the necessary prior authorizations from the right health regulations bodies

The experts invited

Patrick AubourgBicêtre Hospital, Paris, France
Flint BealWeill Cornell University, New York, NY, USA
Nathalie CartierInserm U-745, Paris, France
Florian EichlerMass Gen Hospital, Boston, MS, USA
Marc EngelenAMC, University of Amsterdam, Netherlands
Bjorn van GeelAlkmaar Medical Centre, Alkmaar, Netherlands
Richard I. KelleyKennedy Krieger Institute, Baltimore, MD, USA
Stephan KempAMC, , University of Amsterdam, , Netherlands
Wolfgang KöhlerHubertusburg Hospital, Wermsdorf, Germany
Jörn KühlCharité Hospital, Berlin, Germany
Catherine LubetzkiLa Pitié Hospital, Paris, France
Paul OrchardUniversity of Minnesota, Minneapolis, MN, USA
Aurora PujolWeill Cornell University, New York, NY, USA
Michael RackeOhio State University, Colombus, OH, USA
Gerald RaymondKennedy Krieger Institute, Baltimore, MD, USA
Seward RutkoveBeth Israel Deaconess Medical Center, Boston, MS, USA
Frederic SedelLa Pitié Hospital , Paris, France
Kathleen ZackowskiInstitut Kennedy Krieger, Baltimore, MD, USA













Representatives of patients present

Guy AlbaELA Association, France
Amber SalzmanStop ALD Foundation, USA
Pascal PrinELA Association, France
Rachel SalzmanStop ALD Foundation, USA
Carlos ChiclanaELA Association Spain, Spain
Günther FörstnerAssociation Bundesverein Leukodystrophie e.V., Germany
Mark BostockALD Life Association, United Kingdom
Mark LileyOlivers Army Association, United Kingdom