Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

7 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-11-20

Study Completion Date

2026-09-10

Brief Summary

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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

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Detailed Description

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Conditions

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Acid Sphingomyelinase Deficiency (ASMD)

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* all patients diagnosed with ASMD in Sohag

Exclusion Criteria

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

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Asmaa Nasser Aly

MD

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Sohag University Hospital

Sohag, , Egypt

Site Status

Countries

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Egypt

Other Identifiers

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Soh_Med_25_9____17MS

Identifier Type: -

Identifier Source: org_study_id

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