Ignite Creation Date:
2025-12-26 @ 10:34 AM
Ignite Modification Date:
2025-12-29 @ 12:17 PM
Study NCT ID:
NCT01716728
Status:
UNKNOWN
Last Update Posted:
2013-08-13
First Post:
2012-10-26
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Identification of Undiagnosed Lysosomal Acid Lipase Deficiency
Sponsor:
Massachusetts General Hospital
Organization:
Study Overview
Official Title:
Identification of Undiagnosed Lysosomal Acid Lipase Deficiency
Status:
UNKNOWN
Status Verified Date:
2013-08
Last Known Status:
ENROLLING_BY_INVITATION
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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:
None
Study Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: