Discover Samuel’s story.

At the age of 4, Samuel was diagnosed with an orphan disease, MLC1 (megalencephalic leukoencephalopathy with subcortical cysts), and there was no hope. His parents, Cécile and Étienne, were devastated. 30 years later, Samuel is still here. With a cheeky smile and a life-saving sense of humour, despite all the medical complications and the exhausting administrative efforts of his family. Samuel has been able to go to school, develop a passion for music and maintain loyal friendships. Until recently, he even worked in a company with an adapted timetable.

In thirty years, his disease has evolved, but research has made progress. While there is still no treatment that can stop it, the results of studies are promising, particularly with regard to motor skills, as Spanish researcher Assumpció Bocsh explains.

“Today, there is no treatment available for patients with MLC. Our main objective is to find a treatment for MLC using an advanced therapy such as gene therapy and to identify new indicators that will make it possible to demonstrate that it works.

As head of a research team, I have been working since 2015 on all the studies needed before considering a clinical trial using gene therapy for MLC.

According to our latest laboratory trials, our results are encouraging because we have seen the regression of certain symptoms, even when they have been present for some time. We have been able to correct motor and co-ordination symptoms and also observe improvements on brain imaging. But that’s just the beginning…

It is difficult to obtain funding for research into rare or ultra-rare diseases, as most pharmaceutical companies and even public funding agencies prefer to invest their resources in more widespread diseases, in order to target more patients.

To date, ELA is our only financial partner for the MLC gene therapy project. We are grateful for their support, and we really need their help to move forward with the gene therapy treatment of MLC patients.

Discover the story of Samuel and his family in pictures:

Tomorrow’s successes are based on yesterday’s discoveries and today’s advances.

For more than 30 years, many decisive advances have demonstrated the success of the teams supported by ELA:

“The gene therapy the children received has enabled them to return to a normal life”. Professeur Jean-Hugues Dalle (France) à propos de l’adrénoleucodystrophie (ALD).

“The efficacy of the treatment is now recognised and validated for Europe”, Dr Francesca Fumagalli (Italy) on metachromatic leukodystrophy (MLD).

“We are testing gene therapy treatments with promising results. We now need to confirm these results in humans”, Dr. Assumpció Bosch (Spain) on Samuel’s MLC.

For Samuel, his parents and all the other families affected by this disease, your support is essential:

A life turned upside down by the arrival of leukodystrophy

Diagnosed at the age of 3 when her little sister Maelle was just born, Mia suffers from metachromatic leukodystrophy. Fortunately, the baby’s genetic test was negative. But the disease was progressing rapidly, and Mia could no longer sit up on her own. She was quickly taken into care at the Pediatric and Rehabilitation Hospital in Bullion (78), and fitted with a seat corset. Three days a week, educators, occupational therapists, a psychologist, a nurse and auxiliaries work around Mia to make her stays moments where, quite simply, she feels good.

A daily routine that requires constant readjustment

“The aim is for Mia to have the best life possible,” says Thomas her father. Together with his wife Audrey, a nursery assistant at a center for disabled children, they have had to face many challenges to ensure that family life and their battle against illness go as smoothly as possible. As well as keeping their spirits up, and paying attention to Maelle, the parents face administrative and financial challenges. And in the house, ELA has helped to equip the bathroom: “Without the extra work surface and the adapted bathtub, I had to put Mia on the floor, it was complicated” as Audrey recalls.

Audrey and Thomas draw their strength from the little details of life. When it comes to meals, for example, Mia can no longer eat on her own, and is now fed through a tube. But a bit of chocolate ice cream seems to delight her so much, even though she can no longer speak. Or when the two sisters, lying together on the floor mattress, enjoy massage balls or a column of bubbles.

You never know how leukodystrophy will diminish Mia’s abilities from one day to the next… If the family around Audrey, Thomas, Mia and Maelle is there when they need it, they know they can also count on “the big ELA family”: “We’ve made friends there with whom we can find solutions at every stage.”

Material assistance, moral support, administrative support…

Every day, ELA helps relentlessly

ELA is an association of families for families. For us, supporting them is a historic mission and a priority. Since its creation in 1992, nearly 16 million euros have been devoted to supporting families. The association provides support at every stage of the disease and in all aspects of daily life:
• Social and administrative support
• Psychological support
• Support for caregivers and respite
• Information for families

For Mia, her parents, her sister and for all families with leukodystrophy, your support is essential:

A family story, a treatment in Italy

The Hooge family in northern France thought they’d be happy with their three children. Fate, or rather a mutated gene, decided otherwise. Their second child Nathanaël has developmental problems. After an initial MRI scan and a rapid deterioration in his health, the diagnosis was made: metachromatic leukodystrophy (MLD), but it was already too late to consider treatment. Immediately, the other two boys in the siblings were tested: one was not a carrier. The other, Augustin, is ill. So began a race against time that took them to Milan, to the San Raffaele hospital, where Dr Francesca Fumagalli’s department is dedicated to MLD. Augustin, who was less than a year old, was welcomed there among children from all over the world who had come with the same hope. In February 2018, the gene therapy treatment is implemented. It is both rapid (over 3 months) and cumbersome: marrow collection, laboratory treatment, chemotherapy and intravenous reinjection.

“A little French boy treated in Italy, thanks to Europe’s most innovative research into his disease… It’s fantastic!”

Doctor Francesca Fumagalli heads the pediatric unit dedicated to MLD at Milan’s San Raffaele Hospital. Her international reputation is based on a large multidisciplinary team and over 25 years of fundamental research. “Gene therapy clinical trials began here in 2010. A first wave of around twenty very young children, suffering from early-onset MLD and with no apparent symptoms of the disease, were treated. A second protocol was launched in 2018 with nine other patients, including Augustin.” In early 2021, a new milestone was reached: the efficacy of the treatment was recognized and validated for Europe. Although expensive, the Libmeldy drug is now accessible to European children after years of research. Such a treatment will ease the burden that a disease such as MLD represents for families.

How is Augustin today?

Augustin is 6 years old and leads an almost normal life, despite muscular weaknesses. He attends kindergarten and is accompanied by a full-time educational assistant. For one hour a day during class, a “verticalizer” keeps his trunk and legs in the same axis.

Soccer and pony trekking are regularly on the agenda. And when he’s tired, Augustin uses his wheelchair, happily pushed by his brother Louis.

Every year, he spends 5 days in Milan for medical check-ups: blood tests, physiotherapy tests and a neurological check-up.

Élodie, his mother, says

“Mathéo is only eight years old and has already had some real struggles in his life. No one could have predicted the trials he went through. In our family, nobody knew the word leukodystrophy. Neither did the doctors, who did not think of this rare genetic disease when faced with Mathéo’s frequent vomiting. Further investigations diagnose adrenal insufficiency. That’s where the adrenoleukodystrophy was detected.”

It’s time to try a gene therapy transplant.

“In addition to the prescribed treatment to balance the adrenals, he is monitored by a specialist team in Paris twice a year. In November 2020, an MRI scan revealed a small lesion in his brain. Mathéo has no symptoms yet, but this sign indicates that the disease is progressing. It has to be stopped at all costs, and no drug has yet been found to treat leukodystrophies.”

The only laboratory that masters the technique is leaving Europe.

“There is this innovative gene therapy transplant. A transplant is an extensive treatment. But we did not hesitate. We did all the necessary tests, and then, eight days before starting the transplant process, we received the bad news: the only laboratory in the world that masters the technique is leaving Europe for economic reasons, and Mathéo will not benefit from it. It’s a difficult pill to swallow, between disappointment and inconsolable tears. We were then offered a traditional transplant to inject Mathéo with cells from a compatible donor. We went for it. In October 2021, Mathéo was fighting well. When he was discharged from hospital eight weeks later, he gradually resumed his games, started riding his bike again, eating by himself, laughing, almost like before…”

The first transplant was a failure, there is hope with a second transplant, but the disease continues to progress…

“Unfortunately, in January 2022 the medical check-up was not good. We have to face the facts: the transplant did not work. A nightmare. No one gave up, however, and a new transplant was performed at the end of March 2022. But Mathéo is fragile, infections are attacking his heart, his kidneys and his liver. Our little boy is fighting, despite losing sight in one eye.

To protect himself from viruses, and even from the sun, which is incompatible with his medication, he has to stay at home. Visits are rare. We remain at his side thanks to the donations of days off by supportive colleagues. His everyday life is a bit varied. It involves watching films on the television and playing board games etc…The donor’s cells are still 97% present, the doctors would prefer 99%, so we are monitoring them. We are holding on thanks to Mathéo’s smiles and courage, and because we are well supported by our loved ones and the ELA (European Association against Leukodystrophies) association.”

An update on treatments

by Professor Jean-Hugues Dalle, a transplant physician at the Robert Debré paediatric hospital in Paris

A product of French research, gene therapy has been granted “marketing authorisation” in Europe and France in early 2021 and accelerated approval in the US in 2022. Unfortunately, the industrial licensee decided to leave Europe and deprive European children of this major therapeutic advance.

Very early on, Alice developed balancing problems

Something was making her suffer…

Before becoming parents, Florence and Emmanuel had never heard of leukodystrophies. And then Alice was born, three and a half years ago, and Coline, 18 months later. At the age when Alice should have started walking, she showed balancing problems. In the summer when she was two years old, she fell even more. The following months did not help, as her frequent crying was a clear indication that something was making her suffer.
The diagnosis was made at the beginning of the first lockdown, “metachromatic leukodystrophy”, a barbaric name for a disease that is just as barbaric.

“The neuro-paediatrician at the university hospital in Angers advised us to contact the ELA Association,” recalls Florence, her mother, who had to learn the terrible news alone during the MRI at the hospital, given the health restrictions in force.

The deterioration is immediate…

In less than a month, despite the mobilisation of her entire family and a strong medical team, Alice lost her speech and the ability to sit still without help.

“Things are happening so fast that we hardly have time to realise it. Fortunately, we were well accompanied by our family and friends. The ELA association was very reactive, it opened its social network to us so that we could exchange with other parents. Today, it accompanies us and helps us to make everyday life bearable”.

18 months later, Coline was also diagnosed

She has the same deficient gene..

Genetic analysis carried out without delay for Coline came back positive. She too carries this deficient gene. However, if Alice’s condition is no longer compatible with enzyme therapy, which is still in the experimental stage, Coline may benefit from gene therapy to stop the progression of the disease.

A new treatment is possible

The principle of gene therapy is to perform a bone marrow autograft to modify her stem cells and enable her to synthesise the enzyme she lacks. The family did not hesitate for a second and travelled to Milan, where the treatment had just been approved for marketing.

“Our companies have been extremely supportive in facilitating our departure. On site in Italy, we were provided with a flat with rent adapted to the family’s income and Coline was given a transplant on 17 July.” The little girl puts up with this act as best she can, which is far from harmless.

Hope is there!

Little by little, Coline is learning to walk and discovers the joy of saying words. Of course, she may not yet be able to climb stairs, jump or run like most children her age, but she is making progress, and that’s what matters.
At the university hospital, where she is being closely monitored, her health check-ups are promising: she is now synthesising her enzyme perfectly. Hope is there!

Thanks to your generosity, ELA supports families on a daily basis

Giving Alice and Coline quality of life is now their parents’ goal

Alice can go back to her local nursery every morning, thanks to the help of a school life assistant and a teacher full of good ideas to make her life easier. She likes to go for a walk, listen to the birds, watch her sister play with dolls, get cuddled: with or without lockdown, the important thing today is to savour moments in life, within the family cocoon in which everyone draws strength.
Her parents were able to return to work, with the help of a nanny at home.

“In this ordeal, you have to know how to adapt and simplify your life, and ELA helps us with this”, confides Florence, a young mother who is lucid and determined.

Supporting families, an essential mission of ELA

There are many needs in the face of the progression of the disease, be them psychological, administrative or financial. ELA provides support to families, assists them in their administrative procedures, contributes to the financing and improvement of the childrens’ living conditions, organises leisure activities adapted to their disability and finances respite moments for families.