Screening of Lysosomal Storage Disorders Diseases in Minority Groups
NCT03812042 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100000
Last updated 2019-01-22
Summary
Aim is to undertake a screening study that identifies undiagnosed patients with LSDs and determine the prevalence of these diseases with special focus on underrepresented minority groups.
Conditions
- Lysosomal Storage Diseases
Interventions
- DIAGNOSTIC_TEST
-
Enzyme assay and molecular sequencing
Enzyme assay and molecular sequencing on relevant samples conducted from left over blood samples
Sponsors & Collaborators
-
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
lead OTHER
Principal Investigators
-
Renuka Limgala, PhD · LDRTC
-
Margarita M Ivanova, PhD · LDRTC
-
Ozlem Goker-Alpan, MD · LDRTC
Eligibility
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2016-03-17
- Primary Completion
- 2019-12-31
- Completion
- 2019-12-31
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
-
Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)
NCT01136304 ·Status: COMPLETED
-
Longitudinal Studies of the Glycoproteinoses
NCT01891422 ·Status: COMPLETED
-
Characterisation of Heart Involvement in Fabry Disease With T1 Mapping
NCT04708301 ·Status: COMPLETED
-
A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190
NCT04455230 ·Status: COMPLETED ·Phase: PHASE1/PHASE2
-
Complement Activation in the Lysosomal Storage Disorders
NCT04189601 ·Status: WITHDRAWN
-
A Screening Study Evaluating Disease Status of Gaucher Type I Patients
NCT00795197 ·Status: WITHDRAWN
-
Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease
NCT03425539 ·Status: COMPLETED ·Phase: PHASE3
-
Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
NCT03893240 ·Status: COMPLETED ·Phase: NA
-
Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease
NCT00004314 ·Status: COMPLETED ·Phase: PHASE2
-
A Long-term Follow-up Study of Gaucher Disease
NCT03190837 ·Status: RECRUITING
-
VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe Disease
NCT02898753 ·Status: TERMINATED ·Phase: PHASE1/PHASE2
-
Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease
NCT02416661 ·Status: COMPLETED
-
Long-Term Follow-up Study of Subjects With Fabry Disease Who Received Lentiviral Gene Therapy in Study AVRO-RD-01-201
NCT04999059 ·Status: TERMINATED
-
A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease
NCT03737214 ·Status: ACTIVE_NOT_RECRUITING ·Phase: PHASE3
-
Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease
NCT00113035 ·Status: COMPLETED
-
Ten Year Follow-up in FSHD: the FOCUS 3 Study
NCT06911190 ·Status: RECRUITING
-
Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease
NCT06065605 ·Status: UNKNOWN
-
Identification of Undiagnosed Gaucher Disease
NCT01716741 ·Status: UNKNOWN ·Phase: NA
-
Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)
NCT04635891 ·Status: RECRUITING
-
Stem Cell Gene Therapy for Cystinosis
NCT03897361 ·Status: COMPLETED ·Phase: PHASE1/PHASE2
-
Registry of Fabry Disease - A Multicenter Observational Study
NCT00055016 ·Status: COMPLETED
-
Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
NCT01586871 ·Status: COMPLETED
-
A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease
NCT00515398 ·Status: COMPLETED
-
A Gaucher Disease Gene Therapy Trial With FLT201
NCT07223944 ·Status: RECRUITING ·Phase: PHASE3