Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

Status unconfirmed · Not applicable

Conditions studied: Lysosomal Acid Lipase Deficiency, Cholesterol Ester Storage Disease

In brief

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.

Key facts

Study ID
NCT01716728
Run by
Massachusetts General Hospital
People needed
60
Starts
2012-08-01
Last updated by the study team
2013-08-13

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

You may not qualify if…

Where it is running

Full record on ClinicalTrials.gov

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