Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)

Sohag University

Status: Active, not recruiting

Conditions: Acid Sphingomyelinase Deficiency (ASMD)

Study type: Observational

Funder types: Other

Identifiers

NCT07274826

Soh_Med_25_9____17MS

Details and patient eligibility

About

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

Enrollment: 7 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• all patients diagnosed with ASMD in Sohag

Exclusion criteria

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