Study Identifies Novel SMPD1 Variants in Patients With ASMD in India

December 31st 2021, 11:15am


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.

Study on Niemann-Pick Disease Yields New Insights, Novel Variants

December 16th 2021, 8:15pm


A total of 92 gene variants were sequenced, 41 of which were novel.

Pediatric Patients With ASMD Show Significant Improvement in Olipudase Alfa Trial

December 4th 2021, 4:40pm


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.

Microcytosis Leads to Niemann-Pick Disease Type C Diagnosis for Toddler

November 25th 2021, 12:25pm


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.

Review Identifies Elevated Cancer Prevalence in Patients With ASMD

November 19th 2021, 12:40am


A small cohort of patients with acid sphingomyelinase deficiency (ASMD) showed higher rates of cancer compared with the general population, according to recent findings.

Review Examines Interstitial Lung Disease in Lysosomal Storage Disorders

November 15th 2021, 3:45pm


This new analysis shows early diagnosis of some lysosomal storage disorders can help avoid irreversible damage across the board.

Unraveling the Holistic Impact of ASMD on Patients and Caregivers

November 10th 2021, 10:45pm


A recent review examined the significant physical, social, emotional, and financial impacts of acid sphingomyelinase deficiency (ASMD) on patients and caregivers from an overall lifestyle standpoint

Researchers Look at NPC Type C Prevalence in the United States

November 6th 2021, 10:10pm


Niemann-Pick Disease Type C (NPC), an ultra-rare, progressive neurodegenerative disease, is heterogeneous and is often misdiagnosed or undiagnosed.

Case Study Suggests Further Research on Benign Focal Hepatic Lesions in ASMD

November 5th 2021, 9:10pm


Imaging studies and subsequent biopsies of a liver lesion showed a foamy macrophages aggregate in a 30-year-old patient with acid sphingomyelinase deficiency (ASMD) similar to those found in Gaucher disease.

Case Study Highlights Complications With Intrathecal Delivery of NPC Drug

October 29th 2021, 4:00pm


Intrathecal drug administration via lumbar puncture and a spinal access port device led to serious complications in a patient receiving experimental therapy for Niemann-Pick type C.