Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)

Intact Potential Symptoms and Biomarker Analysis in Diagnosis of Acid Sphingomyelinase Deficiency (ASMD)

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07274826

Enrollment

Registered

2025-12-10

Start date

2025-11-20

Completion date

2026-09-10

Last updated

2025-12-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Acid Sphingomyelinase Deficiency (ASMD)

Keywords

ASMD, Neiman _PICK disease

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

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* all patients diagnosed with ASMD in Sohag

Exclusion criteria

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

Design outcomes

Primary

Measure	Time frame	Description
spleen volumes measured by US expressed relative to basaline for each patient	From basaline to month 12	Change in spleen volumes following treatment over 12months study period

Secondary

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

Countries

Egypt

Outcome results