Rare Disease Day may be long past in February, but the fight for rare disease awareness continues. Earlier this year, specialty pharmaceutical company Neuraxpharm Group (“Neuraxpharm”) and biotechnology company Minoryx Therapeutics (“Minoryx”) joined forces to develop a special information film that, shares a news release from Neuraxpharm, centers around leukodystrophy. Leukodystrophy is a term for a group of progressive disorders affecting the central nervous system, such as X-linked adrenoleukodystrophy. More specifically, the film, which is still available to watch on Youtube, focuses on cerebral adrenoleukodystrophy (cALD).
What is Cerebral Adrenoleukodystrophy?
Adrenoleukodystrophy is a rare genetic disorder resulting from ABCD1 gene mutations that cause very long chain fatty acids to accumulate in the brain. This buildup damages the myelin sheath (the protective covering of nerve cells), as well as the adrenal glands, brain, and spinal cord. There are multiple adrenoleukodystrophy subtypes, including adrenomyeloneuropathy and female ALD. By far, the most “common” form of adrenoleukodystrophy is known as cerebral adrenoleukodystrophy, or childhood cerebral demyelinating adrenoleukodystrophy. As its longer name suggests, cerebral ALD typically manifests in children, with symptoms appearing between ages four and ten. Symptoms may include:
- Hyperactivity
- Learning difficulties
- Cortical blindness
- Difficulty walking
- Hearing loss
- Loss of muscle control
- Decline or loss of previous abilities
- Muscle spasms
- Strabismus (crossed eyes)
- Increasing aggressiveness or other behavioral changes
- Incontinence
- Dysphagia (difficulty swallowing)
- Seizures
The Need for Heightened Awareness
An estimated 35-40% of boys with adrenoleukodystrophy will progress and develop cerebral ALD. This progressive disease is usually fatal within two to five years following diagnosis. Better outcomes are associated with early identification and early, aggressive treatment. However, there is still no pharmacological treatment for cerebral ALD. Currently, allogeneic hematopoietic stem cell transplant (Allo-HSCT) and SKYSONA, a gene therapy, can slow disease progression. Newer treatments are urgently needed – something discussed in Neuraxpharm and Minoryx’s film. In fact, the film speaks with Professor Fanny Mochel, the Director of the Reference Center for Leukodystrophies – La Pitié-Salpêtrière Hospital, Paris, and Karen Harrison, Support Services Manager of Alex, The Leukodystrophy Charity (a Patient Worthy partner!) regarding why early identification is needed, screening measures, and how adrenoleukodystrophy affects patients and families.
Beyond the film, Neuraxpharm and Minoryx are working to encourage the European Medicines Agency (EMA) and its Committee for Medicial Products for Human Use (CHMP) to consider a conditional approval for leriglitazone, an orally available PPAR agonist that has been shown to reduce neuroinflammation and demyelination in animal studies, and halted disease progression in human studies.
Learn more about cerebral ALD here.
