Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

• Sponsor: Massachusetts General Hospital (Other)
• Overall Status: Unknown status
• CT.gov ID: NCT01716728
• Collaborator: Alexion Pharmaceuticals (Industry)
• Enrollment: 60
• Location: 1
• Arm: 1

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Lysosomal Acid Lipase Deficiency; Cholesterol Ester Storage Disease	Other: enzyme analysis	N/A

Study Design

• Study Type: Interventional
• Anticipated Enrollment: 60 participants
• Allocation: N/A
• Intervention Model: Single Group Assignment
• Masking: None (Open Label)
• Primary Purpose: Diagnostic
• Official Title: Identification of Undiagnosed Lysosomal Acid Lipase Deficiency
• Study Start Date: Aug 1, 2012
• Anticipated Primary Completion Date: Aug 1, 2014

Arms and Interventions

Arm	Intervention/Treatment
No Intervention: Enzyme analysis Patients invited for evaluation will undergo lysosomal acid lipase enzyme analysis	Other: enzyme analysis

Outcome Measures

Primary Outcome Measures

1. 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]

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Massachusetts General Hospital	Boston	Massachusetts	United States	02114

Sponsors and Collaborators

• Massachusetts General Hospital
• Alexion Pharmaceuticals

Investigators

• Principal Investigator: Katherine B Sims, MD, Massachusetts General Hospital

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Katherine Sims, MD, Neurologist, Massachusetts General Hospital
• ClinicalTrials.gov Identifier: NCT01716728
• Other Study ID Numbers: 2012P000418
• First Posted: Oct 30, 2012
• Last Update Posted: Aug 13, 2013
• Last Verified: Aug 1, 2013

• Keywords provided by Katherine Sims, MD, Neurologist, Massachusetts General Hospital: Lysosomal Acid Lipase Deficiency; Cholesterol Ester Storage Disease; Wolman Disease; Lysosomal Storage Disorder; Metabolic Disease; Recessive Inheritance
• Additional relevant MeSH terms: Wolman Disease; Cholesterol Ester Storage Disease

Study Results

No Results Posted as of Aug 13, 2013