Identification of Undiagnosed Lysosomal Acid Lipase Deficiency
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Purpose
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 |
- 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 ] [ Designated as safety issue: Yes ]
| 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 |
|---|---|
|
Enzyme analysis
Patients invited for evaluation will undergo lysosomal acid lipase enzyme analysis
|
Other: Enzyme analysis |
Eligibility| Ages Eligible for Study: | 18 Years and older |
| Genders Eligible for Study: | Both |
| 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| United States, Massachusetts | |
| Brigham and Women's Hospital | |
| Boston, Massachusetts, United States, 02115 | |
| Principal Investigator: | Michael F Murray, MD | Brigham and Women's Hospital |
More Information
No publications provided
| Responsible Party: | Michael Murray, Clinical Cheif, Division of Genetics, Brigham and Women's Hospital |
| ClinicalTrials.gov Identifier: | NCT01716728 History of Changes |
| Other Study ID Numbers: | 2012P000418 |
| Study First Received: | October 26, 2012 |
| Last Updated: | October 26, 2012 |
| Health Authority: | United States: Institutional Review Board |
Keywords provided by Brigham and Women's Hospital:
|
Lysosomal Acid Lipase Deficiency Cholesterol Ester Storage Disease Wolman Disease |
Lysosomal Storage Disorder Metabolic Disease Recessive Inheritance |
Additional relevant MeSH terms:
|
Cholesterol Ester Storage Disease Wolman Disease Metabolic Diseases Lipidoses Lipid Metabolism, Inborn Errors |
Metabolism, Inborn Errors Genetic Diseases, Inborn Lysosomal Storage Diseases Lipid Metabolism Disorders Infant, Newborn, Diseases |
ClinicalTrials.gov processed this record on May 23, 2013