Investigating Lysosomal Storage Diseases in Minority Groups
NCT02120235 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 20000
Last updated 2017-04-04
Summary
Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US. Frequently, patients show progressive worsening of symptoms for several years before they get diagnosed. Since many of these diseases can be managed therapeutically, it is important to identify and treat patients in order to avoid organ damage. The investigators aim to undertake a screening study that identifies undiagnosed patients with lysosomal storage disorders and determine the prevalence of these diseases with special focus on underrepresented minority groups.
Conditions
- Lysosomal Storage Disorders
- Gaucher Disease
- Fabry Disease
- Pompe Disease
- Niemann-Pick Disease
Sponsors & Collaborators
-
O & O Alpan LLC
lead OTHER
Eligibility
- Min Age
- 1 Day
- Max Age
- 100 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2014-02-28
- Primary Completion
- 2018-02-28
- Completion
- 2018-12-31
Countries
- United States
Study Locations
More Related Trials
-
Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity
NCT00106912 ·Status: COMPLETED
-
Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders
NCT03812055 ·Status: UNKNOWN
-
Longitudinal Studies of the Glycoproteinoses
NCT01891422 ·Status: COMPLETED
-
Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1
NCT02124083 ·Status: COMPLETED ·Phase: PHASE1/PHASE2
-
Characterisation of Heart Involvement in Fabry Disease With T1 Mapping
NCT04708301 ·Status: COMPLETED
-
Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease
NCT00113035 ·Status: COMPLETED
-
Establishment of Biomarkers for Fabry Disease
NCT01165697 ·Status: COMPLETED
-
VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe Disease
NCT02898753 ·Status: TERMINATED ·Phase: PHASE1/PHASE2
-
Effects of Enzyme Replacement in Gaucher's Disease
NCT00001289 ·Status: COMPLETED
-
T1 Mapping in Fabry Disease
NCT05923788 ·Status: RECRUITING ·Phase: NA
-
Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Late-onset Pompe Disease
NCT00074932 ·Status: COMPLETED ·Phase: NA
-
Data Collection in Women With Fabry Disease
NCT00030134 ·Status: COMPLETED
-
Registry of Fabry Disease - A Multicenter Observational Study
NCT00055016 ·Status: COMPLETED
-
Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease
NCT00316498 ·Status: COMPLETED ·Phase: PHASE1
-
Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease
NCT05698901 ·Status: RECRUITING
-
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment
NCT07277361 ·Status: RECRUITING
-
A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease
NCT00515398 ·Status: COMPLETED
-
Registry of Patients Diagnosed With Lysosomal Storage Diseases
NCT05619900 ·Status: RECRUITING
-
Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher Disease
NCT00004294 ·Status: COMPLETED ·Phase: PHASE1
-
Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support
NCT00268944 ·Status: COMPLETED ·Phase: PHASE3
-
A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease
NCT00465062 ·Status: COMPLETED
-
A Gene Therapy Study in Patients With Gaucher Disease Type 1
NCT05324943 ·Status: COMPLETED ·Phase: PHASE1
-
Fabry Disease in Cerebrovascular Disease
NCT02859363 ·Status: UNKNOWN
-
Real World Evidence Study of Danish Fabry Patients
NCT06303466 ·Status: ACTIVE_NOT_RECRUITING
-
OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease
NCT00041535 ·Status: COMPLETED ·Phase: PHASE2