Researchers found 18 novel and 21 known variants of SMPD1 with disease-causing potential, providing data that may be helpful in prenatal diagnosis of acid sphingomyelinase deficiency in India.
Findings from the single-arm, open-label ASCEND-Peds trial suggest olipudase alfa is well-tolerated and may lead to clinically meaningful improvements in patients with acid sphingomyelinase deficiency (ASMD) who do not have neurovisceral manifestations.
The case required significant testing to get to the correct diagnosis, but the investigators hope their experience helps inform doctors facing similar cases in the future.
A small cohort of patients with acid sphingomyelinase deficiency (ASMD) showed higher rates of cancer compared with the general population, according to recent findings.