Families/Researchers meeting 2023

The Families/Researchers meeting took place online on April 15th and 16th 2023 afternoon (Paris time).

With a simultaneous translation in 5 languages (German, English, Spanish, French, Italian) this meeting was open to the international community of patients concerned by leukodystrophy and once again gives the opportunity to gather around researchers from around the world.


To review the meeting :

ELA virtuel meeting 2023 – Jour 1
ELA virtuel meeting 2023 – Jour 2

ELA virtuel meeting 2023 – Day 1
ELA virtuel meeting 2023 – Day 2

ELA virtuel meeting 2023 – Tag 1
ELA virtuel meeting 2023 – Tag 2

Encuentro ELA virtuel 2023 – Día 1
Encuentro ELA virtuel 2023 – Día 2

ELA virtuel meeting 2023 – Giorno 1
ELA virtuel meeting 2023 – Giorno 2

Families/Researchers Meeting 2022

After a successful first edition last year, ELA International held the Families/Researchers virtual meeting, a major event long awaited by families, again this year.


The Families/Researchers meeting once again brought together families affected by leukodystrophies and researchers working on these diseases. This event gives families the opportunity to learn about the progress of research and the opportunity to exchange with researchers who have actively provided responses to questions. The discussion between the researchers themselves also created a dynamic and the information exchanged enhanced everyone’s knowledge. Four sessions were organised and covered a wide range of leukodystrophies and cross-cutting issues. Simultaneous translation into 5 languages made it possible to open up this meeting once again to international families wishing to attend. This year again, many women followed the researchers’ presentations live and exchanged views with them in the language of their choice. 16 nationalities were represented and 184 families participated in the event.

The support of our partners has helped us to organise this event in the best possible conditions in order to maintain the quality of the services provided, which have made this event a success.


Under the aegis of ELA’s 30th anniversary, Guy Alba (President of ELA International) opened the meeting by outlining the path taken and the key stages of research that have punctuated the life of the association. He also expressed his indignation, on behalf of all ELA families, at the withdrawal of the laboratory Bluebird bio from Europe, even though it had just obtained the marketing authorisation for Skysona, a gene therapy treatment for cerebral adrenoleukodystrophy. This abrupt decision deprives the sick children concerned of vital treatment. Finally, he noted that after many years of research focused on identifying the genes involved and understanding the mechanisms of the disease, many clinical trials are now being conducted and offer hope.

The scientific programme covered topics common to several forms of leukodystrophies, such as neonatal screening, the importance of early diagnosis, patient management and the use of the Leuconnect platform for online studies. The new sequencing technologies presented by Isabelle Thiffault(Children’s Mercy Hospital, Kansas City, USA) show that the technological advances of recent years are accelerating the discovery of new genes. Today, the immense amount of data to be analysed is a new challenge for researchers in identifying the genes responsible for leukodystrophies.

The experts took turns presenting the ongoing trials in which they are involved and their initial results.

Prof. Dr. Wolfgang Koehler(Klinikum St.Georg, Leipzig, Germany), who is currently conducting a study on the quality of life of X-ALD women on the Leuconnect platform, expressed his satisfaction and enthusiasm for this tool, which, based on its success, has led the research team to extend the study to two new languages, Spanish and Italian. He invites X-ALD women who have not yet done so to apply for the study on leuconnect.com.
Although he too is outraged by the withdrawal of Bluebird Bio in Europe, Prof. Dr.  Jean-Hugues Dalle(transplant doctor at Robert Debré-Paris), presented the main results of cell and gene therapy in the treatment of cerebral ALD as “A treatment that works if administered very early”. The issue of improved diagnosis and early management of the disease is at the heart of the discussions.

The study of gene function and expression to accelerate diagnosis in Pelizaeus-Merzbacher disease (PMD) are successively advocated by Prof. Dr. David Rowitch(University of Cambridge, UK) and Dr.  Nicole Wolf (Amsterdam University Medical Center, Netherlands). They highlight the diversity and heterogeneity of these diseases, which makes them difficult to understand.

But new avenues of thought are developing, particularly with the use of stem cells (iPSC), which are revolutionising the field of research. These are dedifferentiated cells that have the ability to be reprogrammed. They represent new research tools that open up perspectives on new therapeutic strategies. In particular, they are used to reproduce the behaviour of the cells involved in the disease. Elly Hol, who is involved in a European research programme (EJP) on Alexander disease, with which ELA is associated, presents a study conducted on mini-brains developed in the laboratory from these cells. They are used to better understand disease mechanisms and test new treatments.

Guanabenz is a molecule that has been marketed for many years in the US and Europe for the treatment of hypertension in adults. An ongoing study led by Prof. Dr. Marjo van der Knaap(Amsterdam University Medical Center, Netherlands) measures the effectiveness of this molecule in CACH syndrome. The initial results are encouraging.

Finally, the treatment of metachromatic leukodystrophy (MLD) by gene therapy approved in Europe represents a real prospect for the treatment of this disease.

Other experts shared their initial results and encouraging information about new treatments to come. Although the scientific community still lacks knowledge about these diseases, these presentations demonstrated, in addition to the clear shift towards clinical trials, that technology continues to advance and research is accelerating.

The Scientific Council of ELA International expressed its support for the families affected by leukodystrophies and victims of the current war in Ukraine, a moving discourse with which ELA associates itself.
“The European Leukodystrophy Association international scientific advisory board wishes to express its concern and sympathy for people and families affected by leukodystrophy and the war in Ukraine. We understand the great difficulty of taking care of children with rare disease, especially without access to proper hospital care or medicines.
Our board members will endeavour to provide direct medical support to refugees as well as hospitals and healthcare providers in the region that can benefit from specialist medical advice on care of leukodystrophy patients.
This is a time of empathy and unity for all people and families affected by leukodystrophy”


The 30 years of ELA and the advances made in the field of leukodystrophy research are in everyone’s mind. The researchers thanked the families who participate in the clinical studies. They were also full of praise and appreciation for the activities carried out by the association over the years and the investments they have been able to make.
Clinical trials continue to increase in number. ELA is continuing on this path towards the treatments of tomorrow.

To review the meeting:

ELA virtuel meeting 2022 – Introduction Guy Alba
ELA virtual meeting 2022 – Day 1
ELA virtual meeting 2022 – Day 2

Special ELA Info n° 118 – Meeting 2022

Families/Researchers virtual meeting: a huge success

Every year, ELA organizes a meeting in Paris which brings families and researchers together affected by leukodystrophies. This event could not take place in 2020 due to thethe global pandemic. The health context having made it impossible to organize the Families/Researchers meeting in person, ELA has had to adapt to allow this long-awaited meeting by families.

A first in ELA’s history

For the first time, ELA has organized a virtual family meeting, with the support of the CNSA (the French National Solidatity Fund for Autonomy), ORCHARD Therapeutics, and Autobahn Therapeutic. The meeting took place on the afternoon of 27 and 28 March, and welcomed the international community of patients affected by leukodystrophy. A simultaneous translation system in 5 languages (German, English, Spanish, French, Italian) allowed a large number of people to follow the presentations easily and live. It brought together some twenty different nationalities, testifying to the universality of the disease and the expectations of families around the world. Four workshops were held, 2 per half day, and covered all pathologies. About twenty researchers took part in the meeting, and gave an update of the progress of their work, and hopes of treatment. A time for discussion was allowed for the participants to ask their questions.

Bringing patients and their families together to accelerate research

One of the major objectives of ELA International is to bring patients together at a global level, an indispensable condition for accelerating research. As President of ELA International, Guy Alba points out: “If we are not able to bring patients together when we start clinical trials, all of this is pointless. To test new treatments, it will take as many patients as possible to build cohorts and conduct these trials under good conditions. Only a structure like ELA International can do it for the benefit of all, because it is independent, because it is disinterested, because it has no conflict of interest, and because it represents all patients.”

With this new international meeting format, patients from all over the world are gathered around the researchers and receive the same information at the same time. On this occasion, Guy Alba  recalled the importance of Leuconnect, a clinical research support platform developed by ELA International that brings patients and their families together. He invited the largest number to register on https://www.leuconnect.com to be part of the Leuconnect community.

This innovative and large-scale format provided by ELA has satisfied all participants and has once again given the opportunity to  families to gather around the researchers.

ELA Families-scientists virtuel meeting : online videos 

Program :

ELA Family Colloque_program 2021_Eng

Special ELA Info n° 114 – Meeting 2021

Every year, ELA organizes a meeting for patients and their families. Many researchers coming from all around the world present the latest scientific and medical advances and answer the questions of patients and families. This annual event is an exceptional opportunity for patients and their families to interact with scientists specialised in leukodystrophies and myelin diseases and learn from their diseases.

The 2019 meeting took place on March 30-31, 2019 in Paris (France).

Special ELA Info n°106 – Meeting 2019