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Enzyme Analysis
Enzyme Analysis for Lysosomal Acid Lipase Deficiency
N/A
Waitlist Available
Led By Katherine B Sims, MD
Research Sponsored by Massachusetts General Hospital
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial Must have
Timeline
Screening 3 weeks
Treatment Varies
Follow Up up to 2 years
Awards & highlights
Study Summary
This trial is testing whether a patient registry can be used to find people with undiagnosed lysosomal acid lipase deficiency, a rare genetic disease. If successful, this could help diagnose people with rare diseases sooner.
Who is the study for?
This trial is for people who might have a rare genetic condition called Lysosomal Acid Lipase Deficiency, which includes Wolman Disease and Cholesterol Ester Storage Disease. They must have their medical records in the Partners HealthCare Patient Data Registry but should not already be diagnosed with this deficiency.Check my eligibility
What is being tested?
The study uses patient data to find those who may unknowingly have Lysosomal Acid Lipase Deficiency. Selected participants will undergo a one-time visit involving a physical exam and blood test (enzyme analysis) to confirm if they have the condition.See study design
What are the potential side effects?
Since this trial involves only an enzyme analysis through a blood draw, side effects are minimal and may include temporary 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
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 Time Frame: up to 2 years Description: Safety Issue?: No number of patients with previously undiagnosed LALD identified
Trial Design
1Treatment groups
Active Control
Group I: Enzyme analysisActive Control1 Intervention
Patients invited for evaluation will undergo lysosomal acid lipase enzyme analysis
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Who is running the clinical trial?
Alexion Pharmaceuticals, Inc.Industry Sponsor
252 Previous Clinical Trials
41,192 Total Patients Enrolled
12 Trials studying Lysosomal Acid Lipase Deficiency
1,884 Patients Enrolled for Lysosomal Acid Lipase Deficiency
Massachusetts General HospitalLead Sponsor
2,920 Previous Clinical Trials
13,193,248 Total Patients Enrolled
AlexionIndustry Sponsor
246 Previous Clinical Trials
39,317 Total Patients Enrolled
12 Trials studying Lysosomal Acid Lipase Deficiency
1,884 Patients Enrolled for Lysosomal Acid Lipase Deficiency
Media Library
Eligibility Criteria:
This trial includes the following eligibility criteria:- I do not have Lysosomal Acid Lipase Deficiency.
Research Study Groups:
This trial has the following groups:- Group 1: Enzyme analysis
Awards:
This trial has 1 awards, including:- No Placebo-Only Group - All patients enrolled in this study will receive some form of active treatment.
Timeline:
This trial has the following timeline:- Screening: It may take up to 3 Weeks to process to see if you qualify in this trial.
- Treatment: The duration you will receive the treatment varies.
- Follow Ups: You may be asked to continue sharing information regarding the trial for 6 Months after you stop receiving the treatment.
Frequently Asked Questions
These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.
What is the availability status for participants in this study?
"As indicated on clinicaltrials.gov, this research is no longer taking part in patient recruitment. The trial commenced on August 1st 2012, and the last update was recorded a year later. However, there are 3 other trials actively recruiting participants at present time."
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