About The Disease
History & Research
ATXPC was first described clinically in 1978 and linked to SAMD9/L mutations in 2016. Since then, researchers have made progress understanding the underlying biology, including:
How SAMD9/L mutations interfere with protein translation
Disruption of growth and immune pathways (e.g., interferon signaling)
Mechanisms of spontaneous mutation correction and chromosomal loss, as in ‘Monosomy 7’
Treatment & Hope
There’s no approved treatment yet for SAMD9 or SAMD9L mutations. But there are reasons to hope:
Bone Marrow Transplant can cure Bone Marrow Failure syndromes
Emerging research from medicines that can reduce the hyper-inflammatory and growth-reducing genetic expression of SAMD9/L mutations directly through tools like antisense oligonucleotides (ASOs) already exist. Advancements in editing of the genetic code itself in the case of gene mutations is progressing rapidly.
While these therapies are developing, as a rare disease it will take patient activism, advocacy, and awareness from SAMD9/L patients as well as community and philanthropic engagement in order to ensure that we receive the attention needed to get these therapeutics to the finish line.
In the meantime patients need to rely on a team of specialist providers to manage symptoms. Not everyone born with a mutation will become sick, but those who do often need extensive support.
