Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

Not Applicable

• Conditions: Lysosomal Acid Lipase Deficiency; Cholesterol Ester Storage Disease
• Interventions: Other: enzyme analysis

• Registration Number: NCT01716728
• Lead Sponsor: Massachusetts General Hospital

Brief Summary

Partners HealthCare maintains a Patient Data Registry (PDR) with information from all patient encounters at Partners HealthCare facilities. We intend to utilize the PDR to identify groups of patient who are of high clinical suspicion for undiagnosed lysosomal acid lipase deficiency. A group of potential participants will be identified through the PDR. Detailed records will be requested to further narrow to ideal participants based upon previously existing diagnoses and symptoms. Participants will be invited to partake in the study via a letter from their Partners care provider with supporting study details. Study participants will be evaluated in a one-time visit. A complete family and medical history will be collected. A physical exam will be performed, and up to 20cc of blood will be drawn. All participants will be notified of their disease status via letter and phone call from the study staff. If the study participant is diagnosed with LALD through this evaluation, proper follow-up recommendations and referrals will be provided. Our intent is to determine if existing patient data can successfully be utilized to aid in the identification of patients with rare genetic disease.

Detailed Description

Not available

Study Timeline

• Study Start: 2012-08
• Study First Submitted: 2012-10-26
• Study First Submitted QC: 2012-10-26
• Study First Posted: 2012-10-30
• Status Verified: 2013-08
• Last Update Submitted: 2013-08-10
• Last Update Posted: 2013-08-13
• Primary Completion: 2014-08

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 60

Inclusion Criteria

• Individuals must have records available in the Partners HealthCare Patient Data Registry

Exclusion Criteria

• Individuals must not have a diagnosis of Lysosomal Acid Lipase Deficiency

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Enzyme analysis	enzyme analysis	Patients invited for evaluation will undergo lysosomal acid lipase enzyme analysis

Primary Outcome Measures

Name	Time	Method
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	up to 2 years

Trial Locations

Locations (1)

Massachusetts General Hospital; 🇺🇸 Boston, Massachusetts, United States