Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)

Acid sphingomyelinase Deficiency known as Neiman _PICK disease is a group of rare genetic diseases. This study includes analysis of clinical manifestations in patients with ASMD and investigations done for diagnosis of these patients

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Acid Sphingomyelinase Deficiency (ASMD) Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hemic and Lymphatic Diseases Histiocytosis Histiocytosis, Non-Langerhans-Cell Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lymphatic Diseases Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Niemann-Pick Diseases Nutritional and Metabolic Diseases Sphingolipidoses

Sex eligibility

All sexes

Study type

Observational

Primary location

Sohag University Hospital

Sohag, Egypt

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

all patients diagnosed with ASMD in Sohag

Exclusion criteria

Patients with hepatosplenomegaly due to other cause Patients who refuse consent

Treatment and study plan

Primary outcomes

spleen volumes measured by US expressed relative to basaline for each patient

Time frame: From basaline to month 12

Change in spleen volumes following treatment over 12months study period

Secondary outcomes

Liver size measured by ultrasound

Time frame: Basaline, weak 12,weak 24

Changes in liver volume

Sponsors and collaborators

Lead sponsor

Sohag University

Other

Registry information

Official study title

Intact Potential Symptoms and Biomarker Analysis in Diagnosis of Acid Sphingomyelinase Deficiency (ASMD)

Important dates

Study start: 2025
Primary completion: 2026
Study completion: 2026
First posted: Dec 10, 2025
Registry last updated: Dec 10, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Not Yet Recruiting