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Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified August 2013 by Katherine Sims, MD, Massachusetts General Hospital.
Recruitment status was:  Enrolling by invitation
Alexion Pharmaceuticals
Information provided by (Responsible Party):
Katherine Sims, MD, Massachusetts General Hospital Identifier:
First received: October 26, 2012
Last updated: August 10, 2013
Last verified: August 2013
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 Intervention
Lysosomal Acid Lipase Deficiency
Cholesterol Ester Storage Disease
Other: enzyme analysis

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

Resource links provided by NLM:

Further study details as provided by Katherine Sims, MD, Massachusetts General Hospital:

Primary Outcome Measures:
  • 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 [ Time Frame: up to 2 years ]

Estimated Enrollment: 60
Study Start Date: August 2012
Estimated Primary Completion Date: August 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
No Intervention: Enzyme analysis
Patients invited for evaluation will undergo lysosomal acid lipase enzyme analysis
Other: enzyme analysis


Ages Eligible for Study:   Child, Adult, Senior
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01716728

United States, Massachusetts
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
Sponsors and Collaborators
Massachusetts General Hospital
Alexion Pharmaceuticals
Principal Investigator: Katherine B Sims, MD Massachusetts General Hospital
  More Information

Responsible Party: Katherine Sims, MD, Neurologist, Massachusetts General Hospital Identifier: NCT01716728     History of Changes
Other Study ID Numbers: 2012P000418
Study First Received: October 26, 2012
Last Updated: August 10, 2013

Keywords provided by Katherine Sims, MD, 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
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Infant, Newborn, Diseases
Lipid Metabolism Disorders
Metabolic Diseases processed this record on May 25, 2017