Rare disease diagnosis boost: new study eyes key clues in ASMD patients

This study looks at symptoms and lab tests to help doctors better diagnose acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease, a rare genetic disorder. Researchers will track changes in spleen and liver size using ultrasound over 12 months in 7 patients. The goal is to improve how this condition is identified and monitored.