Effect of Enzyme Replacement Therapy on Cardiac Function in Children With Gaucher Disease Type 3
- Conditions
- Gaucher Disease Type 3
- Interventions
- Diagnostic Test: echo
- Registration Number
- NCT06627543
- Lead Sponsor
- Noha Osman
- Brief Summary
all cases confirmed diagnosis of Gaucher disease type 3 recieving enzyme replacement therapy at Assiut university hospital
- Detailed Description
evaluate cardiac involvement in a group of GD type 3 patients, evaluate pulmonary hypertension and valvular involvement, compare the findings of basic echo before the start of replacement therapy as well as with healthy controls, to assess the effects of enzyme replacement therpay on the cardiac function.
Recruitment & Eligibility
- Status
- ENROLLING_BY_INVITATION
- Sex
- All
- Target Recruitment
- 44
- Any sex
- No age limit
- Gaucher disease type 3
- Receiving enzyme replacement therapy
- Age18 years old
- Cases of gaucher type 1 and 2
- Other lipid storage disease
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Gaucher type patients echo -
- Primary Outcome Measures
Name Time Method Evaluate Pulmonary Hypertension (PH) in Egyptian GD Type 3 Patients 6 months To assess the presence and severity of pulmonary hypertension using echocardiography. Unit of Measure: mmHg (for systolic pulmonary artery pressure)
Evaluate Valvular Involvement in Egyptian GD Type 3 Patients 6 months To assess the degree of valvular involvement, including stenosis or regurgitation, using echocardiography. Unit of Measure: Severity grading (mild, moderate, severe)
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Ahmed Mohammed Mohammed
🇪🇬Assiut, Egypt