NCT07274826

Active Not Recruiting

Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASM...

Sohag University Source

Compare

Other study identifiers

Sponsor study identifier

Soh_Med_25_9____17MS

Study Type

observational

Estimated enrollment

7

Locations

1 country

Sites

1

Timeline

Study Start

November 20, 2025

Actual (reported)

Primary Completion

August 10, 2026

Estimated (date passed)

This estimate has passed. The registry has not confirmed an actual date for this milestone.

Study Completion

September 10, 2026

Estimated (date passed)

This estimate has passed. The registry has not confirmed an actual date for this milestone.

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

Registry Overview

Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.

Recruitment status: active not recruiting
Estimated enrollment: 7 participants
Study completion date: September 10, 2026
Estimated (date passed)
This estimate has passed. The registry has not confirmed an actual date for this milestone.
Listed locations: 1 countries · 1 sites

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.

Study Start
November 20, 2025
Actual (reported)
First Submitted
November 28, 2025
Actual (reported)
First Posted
December 10, 2025
Actual (reported)
Primary Completion
August 10, 2026
Estimated (date passed)
This estimate has passed. The registry has not confirmed an actual date for this milestone.
Study Completion
September 10, 2026
Estimated (date passed)
This estimate has passed. The registry has not confirmed an actual date for this milestone.

Last Updated: December 10, 2025
Status Verified: November 2025
Last Update Submitted: November 28, 2025

Conditions

Acid Sphingomyelinase Deficiency (ASMD)

Keywords

ASMDNeiman _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

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-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:

Sponsors & Collaborators

Sohag University
Otherlead

Study Sites (1)

Sohag University Hospital

Sohag, Egypt

MeSH Terms

Conditions

Niemann-Pick Diseases

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesHistiocytosis, Non-Langerhans-CellHistiocytosisLymphatic DiseasesHemic and Lymphatic DiseasesMetabolism, Inborn ErrorsGenetic Diseases, Inborn

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

Actual (reported)

Primary Completion

August 10, 2026

Estimated (date passed)

all patients diagnosed with ASMD in Sohag

You may not qualify if:

Patients with hepatosplenomegaly due to other cause Patients who refuse consent

Contact the study team to confirm eligibility.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Lipidoses

Lipid Metabolism, Inborn Errors

Lysosomal Storage Diseases

Metabolic Diseases

Nutritional and Metabolic Diseases

Lipid Metabolism Disorders

This estimate has passed. The registry has not confirmed an actual date for this milestone.

Study Completion

September 10, 2026

Estimated (date passed)

This estimate has passed. The registry has not confirmed an actual date for this milestone.

Last Updated

December 10, 2025

Record last verified: 2025-11

Data Sharing

IPD Sharing: Will not share

Source record

Download the complete ClinicalTrials.gov record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.

Source: ClinicalTrials.gov.

JSON downloads include source attribution and retrieval details alongside the unchanged original record or the separately normalized values.

Registry identifier: NCT07274826
Data provider: ClinicalTrials.gov
Source updated: 2025-12-10
Normalization version: ctgov-legacy-1

Open registry record

Source retrieved: 2026-10-25 22:40:03 UTC

Locations

EG(1)

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (1)

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations