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Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

NCT01716728 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 60

Last updated 2013-08-13

No results posted yet for this study

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.

Conditions

  • Lysosomal Acid Lipase Deficiency
  • Cholesterol Ester Storage Disease

Interventions

OTHER

enzyme analysis

Sponsors & Collaborators

  • Alexion Pharmaceuticals, Inc.

    collaborator INDUSTRY

  • Massachusetts General Hospital

    lead OTHER

Principal Investigators

  • Katherine B Sims, MD · Massachusetts General Hospital

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-08-31
Primary Completion
2014-08-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01716728 on ClinicalTrials.gov