NCT01716728

Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 60 (estimated)
• Sponsor: Massachusetts General Hospital · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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

Type	Name	Description
OTHER	enzyme analysis

Timeline

• Start date: 2012-08-01
• Primary completion: 2014-08-01
• First posted: 2012-10-30
• Last updated: 2013-08-13

Locations

1 site across 1 country: United States