Effect of Enzyme Replacement Therapy on Cardiac Function in Children With Gaucher Disease Type 3

October 3, 2024 updated by: Noha Osman
all cases confirmed diagnosis of Gaucher disease type 3 recieving enzyme replacement therapy at Assiut university hospital

Study Overview

Status

Enrolling by invitation

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Estimated)

44

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Egypt
      • Assiut, Egypt
        • Ahmed Mohammed Mohammed

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

gaucher diseease type 3

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Gaucher type patients
Diagnostic test: echo
echocardiographic

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Evaluate Pulmonary Hypertension (PH) in Egyptian GD Type 3 Patients
Time Frame: 6 months
To assess the presence and severity of pulmonary hypertension using echocardiography. Unit of Measure: mmHg (for systolic pulmonary artery pressure)
6 months
Evaluate Valvular Involvement in Egyptian GD Type 3 Patients
Time Frame: 6 months
To assess the degree of valvular involvement, including stenosis or regurgitation, using echocardiography. Unit of Measure: Severity grading (mild, moderate, severe)
6 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Noha Osman

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 1, 2024

Primary Completion (Estimated)

January 1, 2025

Study Completion (Estimated)

March 1, 2025

Study Registration Dates

First Submitted

September 29, 2024

First Submitted That Met QC Criteria

October 3, 2024

First Posted (Actual)

October 4, 2024

Study Record Updates

Last Update Posted (Actual)

October 4, 2024

Last Update Submitted That Met QC Criteria

October 3, 2024

Last Verified

October 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 04-2023-100034

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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