Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)

NCT07274826 | Active Not Recruiting DMC

• 1 other identifier: Soh_Med_25_9____17MS
• Study Type: observational
• Target: 7
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Acid Sphingomyelinase Deficiency (ASMD)

Keywords

ASMD; Neiman _PICK disease

Outcome Measures

Primary Outcomes (1)

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

  Change in spleen volumes following treatment over 12months study period

  From basaline to month 12

Secondary Outcomes (1)

• Liver size measured by ultrasound

  Basaline, weak 12,weak 24

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population will consist of patients diagnosed with Niemann \_PICK disease specifically confirmed through clinical evaluation, biochemical testing and genetic analysis, receiving follow up and clinical care at hematology and git and metabolic centre's in Sohag Patients may present with variable neurological, visceral, or systemic manifestations characteristic of Niemann \_PICK disease. Recruitment will include both newly diagnosed and previously diagnosed who meet the eligibility criteria

You may qualify if:

• all patients diagnosed with ASMD in Sohag

You may not qualify if:

• Patients with hepatosplenomegaly due to other cause Patients who refuse consent

Sponsors & Collaborators

• Sohag University: lead

Study Sites (1)

Sohag University Hospital

Sohag, Egypt

Location

MeSH Terms

Conditions

Niemann-Pick Diseases

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Hemic and Lymphatic Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: November 28, 2025
• First Posted: December 10, 2025
• Study Start: November 20, 2025
• Primary Completion (Estimated): August 10, 2026
• Study Completion (Estimated): September 10, 2026
• Last Updated: December 10, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

EG (1)