Identification of Undiagnosed Gaucher Disease

Status Enrolling by invitation

Clinical Trial 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.

Clinical Trial Description

n/a

Study Design

Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic

Related Conditions & MeSH terms

Gaucher Disease

Clinical Trial Details

NCT number	NCT01716741
Study type	Interventional
Source	Brigham and Women's Hospital
Contact
Status	Enrolling by invitation
Phase	N/A
Start date	August 2012

View Details

See also
Status	Clinical Trial	Phase
Withdrawn	`NCT04189601` - Complement Activation in the Lysosomal Storage Disorders
Completed	`NCT02536911` - A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate	Phase 1
Completed	`NCT04430881` - A National Study in Patients With Unexplained Splenomegaly
Completed	`NCT02536937` - A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate	Phase 1
Completed	`NCT01411228` - A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease	Phase 3
Terminated	`NCT04094181` - A Study of VPRIV in Participants With Gaucher Disease Previously Treated With Other Enzyme Replacement Therapies or Substrate Reduction Therapies
Completed	`NCT00391625` - Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT)	Phase 1/Phase 2
Completed	`NCT03625882` - Survey Study for Velaglucerase Alfa (VPRIV) in Japan
Active, not recruiting	`NCT05526664` - Omics Gaucher Study: Multiomic Approach
Completed	`NCT02536755` - Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Completed Phase 2 or Phase 3 Studies	Phase 3
Recruiting	`NCT01344096` - Thrombocytopathy in Gaucher Disease Patients	N/A
Completed	`NCT01881633` - A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers	Phase 1
Recruiting	`NCT06116071` - Biomarkers Related to Bone in Pediatric Gaucher Disease
Recruiting	`NCT01951989` - Intra-monocyte Imiglucerase Kinetics in Gaucher Disease	Phase 2
Completed	`NCT00258778` - Phase I Single Dose-Escalation Safety Study of Human Glucocerebrosidase (prGCD)	Phase 1
Recruiting	`NCT04388969` - World Data on Ambroxol for Patients With GD and GBA Related PD
Recruiting	`NCT05992532` - GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
Terminated	`NCT04145037` - Lentiviral Vector Gene Therapy - The Guard1 Trial of AVR-RD-02 for Subjects With Type 1 Gaucher Disease	Phase 1/Phase 2
Completed	`NCT00302146` - Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations
Active, not recruiting	`NCT02605603` - SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease