Rare Disease Day saw the debut of a film that aims to raise awareness of cerebral adrenoleukodystrophy (cALD), a devastating and fatal condition with no pharmacological treatments available.
In the film, cALD expert Professor Fanny Mochel – who is director of the Reference Centre for Leukodystrophies at La Pitié-Salpêtrière Hospital in France – explained that cALD is characterised by progressive destruction of the myelin sheath that surrounds nerve cells, resulting in a relentless deterioration that typically leads to acute neurological decline and death in three to four years.
ALDs are a wide-ranging and complex group of disorders and include X-linked ALD, which affects 6-8/100,000 live male births. It is estimated that around a third of boys will develop cALD as a child or adolescent, and up to 60% of adults.
Regular MRI scanning of patients with ALD, both adults and children, is recommended so that care, counselling, and treatment for symptoms like adrenal insufficiency can start as soon as possible, according to Prof Mochel.
At the moment, some patients may be eligible for a haematopoietic stem cell transplant (HSCT), but that is a risky procedure and often not recommended. It is also subject to the availability of a matched donor.
In the US, a gene therapy for cALD from bluebird bio – Skysona (elivaldogene autotemcel) – has been approved since 2022, on data showing it can slow the progression of neurologic dysfunction in boys 4-17 years of age with early, active cALD.
Skysona was also cleared for use by the European Commission in 2021, but bluebird bio pulled out of the European market altogether later that year, saying it was impossible to build a viable business for gene therapies there due to pricing and reimbursement challenges.
The new film was produced and supported by Neuraxpharm and partner Minoryx Therapeutics, which filed for approval of a pharmacological treatment for cALD, leriglitazone, that was turned down by the EMA’s human medicines committee earlier this year. The two companies have since requested a re-examination of the marketing application.
Karen Harrison, support services manager of Alex, the Leukodystrophy Charity, and the mother of two boys with cALD, said on the film that a diagnosis of the disease is “really devastating for the whole family.”
Often, boys and men diagnosed with cALD were previously healthy, with no apparent health conditions, so initial symptoms are often dismissed or misdiagnosed as a more common illness. It is only when symptoms progress that they end up seeing a neurologist who can give a proper diagnosis.
“cALD robs these boys and men of all their ability,” said Harrison. “They will lose their eyesight, their hearing, they won’t be able to speak, to eat, to walk” and will require 24/7 care from their families.
She added that the lack of newborn screening in the UK and EU means that boys and men are diagnosed too late for treatment with an HSCT, which can be successful, but only if given in the early stages of the disease. And knowing that opportunity has been missed is devastating for patients and their families.
Alex has been pushing the UK to start a screening programme, but so far has been unsuccessful.
Neuraxpharm’s chief executive, Dr Jörg-Thomas Dierks, said the impact of X-ALD and cALD on patients and their families cannot be overstated.
“We are committed to bringing better treatment to patients, so that we can improve the lives of those affected by this devastating disease,” he added. “We hope that this film will raise awareness and understanding of the condition.”
The film can be viewed below:
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