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Enzyme Analysis for Gaucher Disease

N/A

Waitlist Available

Led By Michael F Murray, MD

Research Sponsored by Brigham and Women's Hospital

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Be older than 18 years old

Timeline

Screening 3 weeks

Treatment Varies

Follow Up up to 2 years

Awards & highlights

Study Summary

This trial is testing whether a registry of patients' medical records can be used to identify people with undiagnosed Gaucher disease, a rare genetic disorder. If successful, the study could help doctors better understand and treat the condition.

Who is the study for?

This trial is for individuals who may have undiagnosed Gaucher Disease and have their medical records in the Partners HealthCare Patient Data Registry. People already diagnosed with Gaucher Disease cannot participate.Check my eligibility

What is being tested?

The study aims to see if patient data can help find undiagnosed cases of Gaucher Disease. Participants will undergo a one-time visit involving a physical exam, family and medical history review, and blood tests for enzyme analysis.See study design

What are the potential side effects?

There are minimal side effects associated with this trial as it involves standard procedures like a physical exam and drawing blood (up to 20cc). Some might experience discomfort or bruising at the needle site.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ up to 2 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~up to 2 years

This trial's timeline: 3 weeks for screening, Varies for treatment, and up to 2 years for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.

Primary outcome measures

number of patients with previously undiagnosed GD identified

Trial Design

1Treatment groups

Experimental Treatment

Group I: Enzyme analysisExperimental Treatment1 Intervention

Patients invited for evaluation will undergo glucocerebrosidase enzyme analysis

Do I qualify?Apply below to find out

Find a Location

Who is running the clinical trial?

Brigham and Women's HospitalLead Sponsor

1,608 Previous Clinical Trials

11,469,777 Total Patients Enrolled

Genzyme, a Sanofi CompanyIndustry Sponsor

524 Previous Clinical Trials

85,530 Total Patients Enrolled

16 Trials studying Gaucher Disease

12,872 Patients Enrolled for Gaucher Disease

Michael F Murray, MDPrincipal InvestigatorBrigham and Women's Hospital

Media Library

Enzyme analysis Clinical Trial Eligibility Overview. Trial Name: NCT01716741 — N/A

Gaucher Disease Research Study Groups: Enzyme analysis

Gaucher Disease Clinical Trial 2023: Enzyme analysis Highlights & Side Effects. Trial Name: NCT01716741 — N/A

Enzyme analysis 2023 Treatment Timeline for Medical Study. Trial Name: NCT01716741 — N/A

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

Are there any opportunities available to join this experimental research?

"This research endeavour, which was originally posted on August 1st 2012 and edited lastly on October 26th of the same year, is not presently recruiting patients. However, there are currently 15 other medical studies that have open enrollment at this time."

Answered by AI

Recent research and studies

clinicaltrials.govStudy

Identification of Undiagnosed Gaucher Disease

Michael Murray 2012. "Identification of Undiagnosed Gaucher Disease". ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT01716741.

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