Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)

N/AActive Not RecruitingNCT07274826

Sohag University7 enrolled

Overview

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 Type

OBSERVATIONAL

Enrollment

Conditions

Acid Sphingomyelinase Deficiency (ASMD)

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * all patients diagnosed with ASMD in Sohag Exclusion Criteria: * Patients with hepatosplenomegaly due to other cause Patients who refuse consent

Locations (1)

Sohag University Hospital

Sohag, Egypt

Outcomes

Primary Outcomes

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

Change in spleen volumes following treatment over 12months study period

Time frame: From basaline to month 12

Secondary Outcomes

Liver size measured by ultrasound

Changes in liver volume

Time frame: Basaline, weak 12,weak 24

Data from ClinicalTrials.gov

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