Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)

November 28, 2025 updated by: Asmaa Nasser Aly, Sohag University

Intact Potential Symptoms and Biomarker Analysis in Diagnosis 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

Study Overview

Status

Active, not recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

7

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Egypt
      • Sohag, Egypt
        • Sohag University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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

Description

Inclusion Criteria:

  • all patients diagnosed with ASMD in Sohag

Exclusion Criteria:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
From basaline to month 12

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Liver size measured by ultrasound
Time Frame: Basaline, weak 12,weak 24
Changes in liver volume
Basaline, weak 12,weak 24

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sohag University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 20, 2025

Primary Completion (Estimated)

August 10, 2026

Study Completion (Estimated)

September 10, 2026

Study Registration Dates

First Submitted

November 28, 2025

First Submitted That Met QC Criteria

November 28, 2025

First Posted (Actual)

December 10, 2025

Study Record Updates

Last Update Posted (Actual)

December 10, 2025

Last Update Submitted That Met QC Criteria

November 28, 2025

Last Verified

November 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Soh_Med_25_9____17MS

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Acid Sphingomyelinase Deficiency (ASMD)

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Canada

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe