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Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

NCT ID: NCT01716728

Last Updated: 2013-08-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Clinical Phase

NA

Total Enrollment

60 participants

Study Classification

INTERVENTIONAL

Study Start Date

2012-08-31

Brief Summary

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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

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Conditions

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Lysosomal Acid Lipase Deficiency Cholesterol Ester Storage Disease

Keywords

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

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Enzyme analysis

Patients invited for evaluation will undergo lysosomal acid lipase enzyme analysis

Group Type NO_INTERVENTION

enzyme analysis

Intervention Type OTHER

Interventions

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enzyme analysis

Intervention Type OTHER

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Alexion Pharmaceuticals, Inc.

INDUSTRY

Sponsor Role collaborator

Massachusetts General Hospital

OTHER

Sponsor Role lead

Responsible Party

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Katherine Sims, MD

Neurologist

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Katherine B Sims, MD

Role: PRINCIPAL_INVESTIGATOR

Massachusetts General Hospital

Locations

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Massachusetts General Hospital

Boston, Massachusetts, United States

Site Status

Countries

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United States

Other Identifiers

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2012P000418

Identifier Type: -

Identifier Source: org_study_id