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NCT01716728 Clinical Trial

Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

Lysosomal Acid Lipase Deficiency Clinical Trial

Official title:
Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

Clinical Trial Details — Status: Enrolling by invitation

Administrative data
NCT number NCT01716728
Other study ID # 2012P000418
Secondary ID
Status Enrolling by invitation
Phase N/A
First received October 26, 2012
Last updated August 10, 2013
Start date August 2012

Study information
Verified date August 2013
Source Massachusetts General Hospital
Contact n/a
Is FDA regulated No
Health authority United States: Institutional Review Board
Study type Interventional

Clinical Trial 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.

Recruitment information / eligibility
Status Enrolling by invitation
Enrollment 60
Est. completion date
Est. primary completion date August 2014
Accepts healthy volunteers No
Gender Both
Age group N/A and older
Eligibility 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

Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic

Related Conditions & MeSH terms

Intervention

Other:
• enzyme analysis

Locations
Country Name City State
United States Massachusetts General Hospital Boston Massachusetts

Sponsors (2)
Lead Sponsor Collaborator
Massachusetts General Hospital Alexion Pharmaceuticals

Country where clinical trial is conducted

United States, 

Outcome
Type Measure Description Time frame Safety issue
Primary 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 Yes
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