The Families/Researchers meeting took place online on April 6^th and 7^th 2024 afternoon (Paris time).

With a simultaneous translation in 5 languages (German, English, Spanish, French, Italian, Czech) 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.

It brought together 19 researchers and 225 participants from 22 regions of the world.

Find the program and all the speeches on the ELA International website.

ELA international is giving a voice to the parents of sick children who are speaking out against the planned discontinuation of a treatment currently under trial

Scheduled discontinuation in 2024

In 2012, Takeda launched a clinical trial to evaluate the efficacy of an enzyme replacement therapy (TAK-611) in metachromatic leukodystrophy (MLD). In fall 2023, Takeda announced that the ongoing clinical trial had not meet its phase 2 endpoints, mainly based on the evaluation of patients’ motor functions. The major consequence of this declaration is the discontinuation of development and production of the TAK-611 molecule. Associations and investigators have been informed by the laboratory, and it is up to them to explain this to families.

ELA International gathers testimonies from parents of sick children, and from associations *

ELA International organized a meeting with the families concerned to collect their comments and opinions about the treatment on December 4, 2023. At the beginning of 2024, ELA International pursued to collect testimonials from various countries around the world: Argentina, Brazil, France, Germany, Japan, Poland, Spain and United States. Parents have been able to express their feelings and give their opinion on the effects they have noticed on their children’s quality of life. And everyone was unanimous. They all agree that their children suffer much less, are calmer, smile more, are more interactive and have more social activities, compared with untreated children.

ELA International contacted the President of Takeda

A document compiling all these testimonies has been sent by ELA International to the President of Takeda. It was accompanied by a letter calling for the observations made by families to be taken into consideration, and for the development of the treatment to be resumed with a clinical evaluation of the quality of life of MLD patients.

Takeda has listened to the patient voice

On March 18, 2024, Takeda responded to the entire MLD community, assuring that “Takeda has been actively engaged in discussions and listening to feedback from investigators, families and the patient advocacy community regarding the program.” Takeda representatives clearly heard that “families of the children in the trials have expressed a sincere desire to continue receiving TAK-611”.

As a result, Takeda has “taken the decision to extend the ongoing TAK-611 clinical trials until further notice. This extension of the clinical studies will include the continued supply of TAK-611 to existing trial sites. It will also allow patients and investigator sites to maintain their current follow-up”.

In addition, the company is working “to determine a more sustainable, long-term option in coordination with the relevant regulatory authorities.” ELA International would like to thank Takeda for its attentiveness and positive feedback and is committed to supporting any initiative taken in the interests of patients.

* With the support of the associations : ELA France, ELA Espagne ; ELA Allemagne ; ELA Italie ; ELA Suisse ; ELA Belgique ; ELA Luxembourg ; archangel ; Casa Hunter Institution ; Cure MLD ; Fundacion Lautaro te necesita ; MLD foundation ; MLD support UK ; ULF pour leur investissement.

ELA International warns of the importance of screening for leukodystrophies at birth.

Diagnosed too late, Alice lost her speech and mobility in less than a month. As a result of this cataclysm, her little sister Coline was screened very early, even before the first symptoms of the disease appeared. That’s what changed everything for her. Coline was saved thanks to an innovative treatment.

It’s the same story for Mathieu and his little sister Eléonore, for Nathanaël and his little brother Augustin, and for many others… It’s been going on for several years and could go on for a long time if we don’t say STOP! As if this sacrifice of our eldest children were inevitable.

Yet all these children could have been saved, because an effective treatment exists, provided it is administered very early, even before the first symptoms appear. And this is possible as long as all babies are screened at birth. Some countries have already introduced such screening. It enables children at risk of developing leukodystrophy to be identified and monitored. The cost of the test is derisory (less than €1/test) given the seriousness of the disease and the enormous impact on the whole family.

In its referenced opinion of January 2024, ELA International’s ethics committee, made up of experts from all walks of life, said it was very much in favour of newborn screening for leukodystrophies that can benefit from treatment.

We still have to convince the health authorities that our demand is well-founded. Needless to say, the families of ELA International are determined to achieve widespread screening for leukodystrophies, and to finally put an end to the unbearable fatality of the 1st child saving the 2nd.

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A rare and devastating genetic disease

Metachromatic leukodystrophy (MLD) is a rare genetic disease, occurring at a rate of 1 in 45,000 births. It can begin in childhood, adolescence, or adulthood, and leads to severe neurological dysfunction affecting motor skills and cognitive functions, and potentially to death.

Libmeldy: an innovative treatment

For children unable to receive a bone marrow transplant, families’ only hope lies in gene therapy: the stem cells of the patient are harvested and corrected in laboratory before being reinjected. Libmeldy was developed in Italy and required over ten years of research. Around forty European children received the treatment during clinical trials carried out to verify the safety and efficacy of the therapy. This treatment has since received European marketing authorization in 2021.

A European health issue

At the time of writing, this brings to 11 the number of European countries that have agreed to permanently reimburse this proven, life-saving gene therapy treatment: Belgium, Denmark, Finland, Germany, Iceland, Ireland, Italy, the Netherlands, Norway, Sweden and the United Kingdom.

In France, treatment is available under a special dispensation: early access. This system is neither permanent nor guaranteed over time.

“The patient must always come first, especially when a life is at stake, and the government must then do everything possible to ensure this. And that’s why we need to cooperate much more in Europe…”

Frank Vandenbroucke, Belgian Minister of Health and Social Affairs (January 2024)

“Today’s announcement of Libmeldy’s reimbursement approval in our three countries gives hope to families who can now access this life-changing drug…”.

Stephen Donnelly T.D., Irish Minister for Health (January 2024)

“This positive outcome is excellent news for MLD patients and their families. This collaboration between Belgium, Ireland and The Netherlands demonstrates once again the value of our countries working together in price negotiations…”

Conny Helder, Dutch Minister of Health, Welfare and Sport (January 2024)

A major victory for ELA’s children and families

ELA International has funded numerous research projects on metachromatic leukodystrophy, contributing to the discovery of this new treatment. But ELA’s mission is not limited to research. In the 7 countries where it is present, ELA also supports families on a daily basis.

We are glad that this life-saving treatment is becoming available to a greater number of patients in Europe. France, Spain and other European countries are still missing in action, to the great dismay of the families affected. This is why we are closely monitoring the ongoing negotiations between all the parties involved.

ELA international repeats the ELA Families/Researchers meeting virtually, an event open to the international community of patients affected by leukodystrophy.

A simultaneous translation in 5 languages (German, English, Spanish, French, Italian) allowed everyone to follow the presentations live.

 The videos of the meeting are available: you can find them on ELA International website.

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

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

Registration is opened and required to get the connexion links.

To register and participate in the meeting:

Authorised by the European Medicines Agency in 2021, Skysona, the first innovative treatment for cerebral adrenoleukodystrophy (CALD), will not be marketed in Europe. The Bluebird Bio laboratory that was to produce it is closing its doors in Europe, condemning our children. Why?