Identification of Undiagnosed Gaucher Disease

NCT01716741 | Unknown

• 1 other identifier: 2012P000469
• Study Type: interventional
• Target: 100
• 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 Gaucher disease. 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 GD 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

Gaucher Disease

Keywords

Gaucher disease; lysosomal storage disorder; metabolic disease; medical records review

Outcome Measures

Primary Outcomes (1)

• number of patients with previously undiagnosed GD identified

  up to 2 years

Study Arms (1)

Enzyme analysis

OTHER

Patients invited for evaluation will undergo glucocerebrosidase enzyme analysis

Other: Enzyme analysis

Interventions

Enzyme analysis OTHER

Enzyme analysis

Eligibility Criteria

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

You may qualify if:

• Must have records available in the Partners HealthCare Patient Data Registry

You may not qualify if:

• Must not have a diagnosis of Gaucher disease

Sponsors & Collaborators

• Brigham and Women's Hospital: lead
• Genzyme, a Sanofi Company: collaborator

Study Sites (1)

Brigham and Women's Hosptial

Boston, Massachusetts, 02115, United States

Location

MeSH Terms

Conditions

Gaucher Disease; Lysosomal Storage Diseases; Metabolic Diseases

Interventions

Restriction Mapping

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

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

Study Officials

• Michael F Murray, MD

  Brigham and Women's 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: Clinical Chief, Division of Genetics

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: October 30, 2012

Record last verified: 2012-08

Locations

US (1)