Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

NCT01716728 | Unknown

• 1 other identifier: 2012P000418
• Study Type: interventional
• Target: 60
• Locations: 1 country
• Sites: 1

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.

Conditions

Lysosomal Acid Lipase Deficiency; Cholesterol Ester Storage Disease

Keywords

Lysosomal Acid Lipase Deficiency; Cholesterol Ester Storage Disease; Wolman Disease; Lysosomal Storage Disorder; Metabolic Disease; Recessive Inheritance

Outcome Measures

Primary Outcomes (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

Study Arms (1)

Enzyme analysis

NO INTERVENTION

Patients invited for evaluation will undergo lysosomal acid lipase enzyme analysis

Other: enzyme analysis

Interventions

enzyme analysis OTHER

Enzyme analysis

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Individuals must have records available in the Partners HealthCare Patient Data Registry

You may not qualify if:

• Individuals must not have a diagnosis of Lysosomal Acid Lipase Deficiency

Sponsors & Collaborators

• Massachusetts General Hospital: lead
• Alexion Pharmaceuticals, Inc.: collaborator

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

MeSH Terms

Conditions

Wolman Disease; Cholesterol Ester Storage Disease; Lysosomal Storage Diseases; Metabolic Diseases

Interventions

Restriction Mapping

Condition Hierarchy (Ancestors)

Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases; Lipid Metabolism Disorders; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Physical Chromosome Mapping; Chromosome Mapping; Genetic Techniques; Investigative Techniques

Study Officials

• Katherine B Sims, MD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Neurologist

Study Record Dates

• First Submitted: October 26, 2012
• First Posted: October 30, 2012
• Study Start: August 1, 2012
• Primary Completion: August 1, 2014
• Last Updated: August 13, 2013

Record last verified: 2013-08

Locations

US (1)