Diagnostic Creteria of Acid Sphingomyelinase Deficiency (... | NCT07274826

Studies
Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)

NCT07274826

Sponsor

Sohag University

Status

Active, not recruiting

Last Update Posted

Dec 10, 2025Actual

Enrollment

7Estimated

Phase

Not provided

Conditions

Acid Sphingomyelinase Deficiency (ASMD)

Interventions

Not provided

Countries

Egypt

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Nov 2025

Overall Recruitment Status or Expanded Access Status

Active, not recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Nov 20, 2025Actual

Primary Completion Date

Aug 10, 2026Estimated

Completion Date

Sep 10, 2026Estimated

First Submitted Date

Nov 28, 2025

First Submission Date that Met QC Criteria

Nov 28, 2025

First Posted Date

Dec 10, 2025Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Nov 28, 2025

Last Update Posted Date

Dec 10, 2025Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

7Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

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

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

all patients diagnosed with ASMD in Sohag

Exclusion Criteria:

Patients with hepatosplenomegaly due to other cause Patients who refuse consent

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

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

Sampling Method

Non-Probability Sample

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D009542	Niemann-Pick Diseases

Ancestor Terms

ID	Term
D013106	Sphingolipidoses
D020140	Lysosomal Storage Diseases, Nervous System
D020739	Brain Diseases, Metabolic, Inborn
D001928	Brain Diseases, Metabolic

Browse Leaves

Not provided

Browse Branches

Not provided