Gaucher Disease Type 3
Conditions
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.
Interventions
DIAGNOSTIC_TESTecho
echocardiographic
Sponsors
Noha Osman
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Inclusion criteria
* Any sex * No age limit * Gaucher disease type 3 * Receiving enzyme replacement therapy
Exclusion criteria
* Age18 years old * Cases of gaucher type 1 and 2 * Other lipid storage disease
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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) |
Countries
Egypt
Outcome results
None listed