Gaucher Disease Clinical Trial
Official title:
Longitudinal Study of Neurodegenerative Disorders
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.
Status | Recruiting |
Enrollment | 1500 |
Est. completion date | January 2035 |
Est. primary completion date | January 2030 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | Inclusion Criteria: - Any patient with a genetic neurodegenerative disorder Exclusion Criteria: - none |
Country | Name | City | State |
---|---|---|---|
United States | UPMC Children's Hospital of Pittsburgh | Pittsburgh | Pennsylvania |
Lead Sponsor | Collaborator |
---|---|
University of Pittsburgh |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Cognitive development | Repeated standardized age equivalent scores. | 15 years | |
Primary | Language development | Repeated standardized age equivalent scores. | 15 years | |
Primary | Gross Motor development . | Repeated standardized age equivalent scores. | 15 years | |
Primary | Fine Motor development | Repeated standardized age equivalent scores. | 15 years | |
Primary | Adaptive living skills | Repeated standardized age equivalent scores. | 15 years | |
Secondary | Exploratory biomarkers | Blood, CSF and urine | 15 years | |
Secondary | Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age | Specialized technique to use DTI data to measure brain degeneration over time | 5 years |
Status | Clinical Trial | Phase | |
---|---|---|---|
Withdrawn |
NCT04189601 -
Complement Activation in the Lysosomal Storage Disorders
|
||
Completed |
NCT02536937 -
A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
|
Phase 1 | |
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 |
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
|