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Enrolling by Invitation

NCT Number: NCT06627543

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

all cases confirmed diagnosis of Gaucher disease type 3 recieving enzyme replacement therapy at Assiut university hospital

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Key information

Conditions

Gaucher Disease Type 3 Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gaucher Disease Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses

Sex eligibility

All sexes

Study type

Observational

Primary location

Ahmed Mohammed Mohammed

Asyut, Egypt

About this study

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.

Who can participate

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

ECHO

Diagnostic Test

echocardiographic

Primary outcomes

  1. 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)

  2. 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)

Sponsors and collaborators

Lead sponsor

Noha Osman

Other

Registry information

Important dates

Study start
2024
Primary completion
2025
Study completion
2025
First posted
Oct 4, 2024
Registry last updated
Oct 4, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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