ClinicalTrials.gov record NCT06627543

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusEnrolling by invitationThe study enrols only people the study team invites, for example patients already at a particular clinic. It is not open to the public.The registry record was last updated on Oct 4, 2024, about 2 years ago, so the status shown may be out of date. The study team or the registry can confirm.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

SexAll

LocationEgypt

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This prospective observational case-control study uses echocardiography to evaluate heart involvement in people with Gaucher disease type 3 who are receiving enzyme replacement therapy. It compares echo findings with patients' pre-treatment baseline scans when available and with healthy controls over about 6 months. Key focuses are pulmonary hypertension and valvular disease.

What it is studying. The study is testing whether and how Gaucher disease type 3 is linked to changes in heart function—specifically pulmonary artery pressure and valve abnormalities—by using echocardiography and comparing patients on enzyme replacement therapy with baseline echoes and healthy controls.

What the researchers hope to learn. To describe cardiac involvement (pulmonary hypertension and valve disease) in Gaucher disease type 3 and to compare echocardiographic measures before and after enzyme replacement therapy and versus healthy controls.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Diagnostic test: echo

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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 description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants will have one or more echocardiograms (heart ultrasounds) to assess pulmonary artery pressure and valve function. The study is prospective and follows findings over about 6 months; prior or baseline echo results (for comparison) may be used when available. Results from participants may be compared with healthy control data. No investigational treatments are assigned by the study (observational diagnostic testing only).

How the study is structured. Prospective observational (case-control) study. Participants receive echocardiograms and are compared with healthy control measurements. Follow-up and outcome assessment occur over a roughly 6-month period.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The registry says participants are enrolled by invitation. Who decides who is invited, and how?
The listed sites are in Egypt. Is any of them reachable for me, and does the study help with travel?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on Gaucher disease

Clinical trials64 trials listed for Gaucher diseaseEvery trial the registry lists for Gaucher disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Gaucher disease researchLatest monthly update: September 2026. Includes: Platelet release. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: Apr 1, 2024
Primary completion: Jan 1, 2025 (estimated)
Study completion: Mar 1, 2025 (estimated)
Target enrollment: 44 participants (estimated)
Last updated on registry: Oct 4, 2024
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: Noha Osman

Participating sites (1)

Ahmed Mohammed Mohammed
Asyut · Egypt

Terms used on this page · explanations by MedicalUpdates.ai

Inclusion Criteria: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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