ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has...
Age: Birth - 66+
Gender: All
The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment
The eMERGE Network embraces the opportunity to use new methods in genomic medicine,
information science, and research participant engagement to identify people at very high risk
for specific diseases and recommend individualized approaches to prevention and care. Th...
Age: 3 - 75 years
Gender: All
Lysosomal Storage Diseases Biorepository
The purpose of this study is to collect, store, and study blood samples from people with Lysosomal Storage Diseases (LSDs). Some examples of LSDs include Gaucher disease, Fabry disease, Pompe disease, and Mucopolysaccharidosis I. The samples from this study will provide...
Age: 0 - 99 years
Gender: All
Fragile X Spectrum Disorders Biorepository
The purpose of this study is to collect, store, and study blood samples from people with Fragile X Spectrum Disorders. The samples from this study will provide a research for researchers to conduct genetic and other studies. This information may be used to advance the m...
Age: 0 - 99 years
Gender: All
Pancreatic Cancer Early Detection Consortium
The purpose of the Pancreatic Cancer Early Detection (PRECEDE) Consortium is to conduct
research on multiple aspects of early detection and prevention of pancreatic ductal
adenocarcinoma (PDAC) by establishing a multisite cohort of individuals with family history
...
Age: 18 - 90 years
Gender: All
Systems Biology of Early Atopy
The goal of this study is to establish a birth cohort that collects prenatal and early life
biosamples and environmental samples and rigorously phenotypes young children for food
allergy and Atopic Dermatitis (AD) to identify prenatal and early life markers of high ...
Age: Birth - 66+
Gender: All
LRRK2, GBA and Other Genetic Biomarkers in Eastern European (Ashkenazi) Jews With and Without Parkinson's Disease
Single site observational study focused on elucidating the genes and biochemical pathways
involved in causing Parkinson disease.
Age: 30 years - 66+
Gender: All
Tumor-Agnostic Precision Immuno-Oncology and Somatic Targeting Rational for You (TAPISTRY) Platform Study
TAPISTRY is a Phase II, global, multicenter, open-label, multi-cohort study designed to
evaluate the safety and efficacy of targeted therapies or immunotherapy as single agents or
in rational, specified combinations in participants with unresectable, locally advance...
Age: Birth - 66+
Gender: All
Implementing an Individualized Pain Plan (IPP) for ED Treatment of VOE's in Sickle Cell Disease
The overall purpose of this proposed study is to improve management of vaso-occlusive
episodes (VOEs) in adult EDs. We aim to implement NHLBI recommendations for VOE treatment by
embedding Individualized Pain Plans (IPPs) in the electronic health record (EHR). The
...
Age: 18 - 45 years
Gender: All
PPMI 2.0 Clinical -Establishing a Deeply Phenotyped PD Cohort
The Parkinson Progression Marker Initiative 2.0 (PPMI 2.0) is a longitudinal, observational,
multi-center natural history study to assess progression of clinical features, digital
outcomes, and imaging, biologic and genetic markers of Parkinson's disease (PD) progre...
Age: 30 years - 66+
Gender: All
First-in-human Study of DRP-104 (Sirpiglenastat) as Single Agent and in Combination With Atezolizumab in Patients With Advanced Solid Tumors.
The purpose of this study is to characterize the safety, tolerability, pharmacokinetics,
pharmaco-dynamics and preliminary anti-tumor activity of DRP-104 (sirpiglenastat)
administered via intravenous infusion or via subcutaneous injection as a single agent and in
...
Age: 18 years - 66+
Gender: All
Testing Maintenance Therapy for Small Cell Lung Cancer in Patients With SLFN11 Positive Biomarker
This phase II trial studies whether atezolizumab in combination with talazoparib works better
than atezolizumab alone as maintenance therapy for patients with SLFN11-positive
extensive-stage small cell lung cancer. Immunotherapy with monoclonal antibodies, such as
...
Age: 18 years - 66+
Gender: All
Genetic Testing to Understand and Address Renal Disease Disparities Across the United States
The primary aim is to determine the effect of participant and provider knowledge of a
positive APOL1 status and accompanying guideline based clinical decision support (CDS) on
blood pressure management on change in systolic blood pressure (SBP) from baseline to 3
...
Age: 18 - 70 years
Gender: All
PDGeneration: Mapping the Future of Parkinson's Disease
To assess the feasibility, impact, and participant satisfaction of offering Clinical Laboratory Improvement Amendments (CLIA) certified genetic testing as part of clinical care for People with Parkinson's disease (PWP).
Age: 18 years - 66+
Gender: All
Carboxylesterase 1 Genetic Variation and Methylphenidate in ADHD
The study team will determine the association between d,l-methylphenidate (MPH) therapeutic
outcomes in ADHD patients and genetic variants of CES1 and reveal key associations between
CES1 genotypes and the PK and PD of MPH.
Age: 6 - 26 years
Gender: All
Protocol for the Collection of Blood and Surgical Specimens from Patients With and Without Glaucoma
We plan to identify the anatomical, biochemical and genetic differences between normal and glaucomatous eyes using various using tissue samples from the eye and blood.
Age: 18 - 90 years
Gender: All
Myeloma-Developing Regimens Using Genomics (MyDRUG)
The MyDRUG study is a type of Precision Medicine trial to treat patients with drugs targeted
to affect specific genes that are mutated as part of the disease. Mutations in genes can lead
to uncontrolled cell growth and cancer. Patients with a greater than 25% mutati...
Age: 18 years - 66+
Gender: All
Defining the Skin and Blood Biomarkers of Ichthyosis
Ichthyosis is a group of genetic skin disorders that present with dry, thickened, scaly, or
flaky skin. As of today, there is no cure or treatment. Doctors can only treat the dry skin
with different types of emollients to soften the scale. A deeper understanding of ...
Age: 1 year - 60 years
Gender: All
Biology of Juvenile Myoclonic Epilepsy
The investigators are collecting genetic information through blood samples as well as
clinical and EEG data from over 1000 people with Juvenile Myoclonic Epilepsy (JME) across the
UK, Europe and North America. This study will draw on both existing and new samples fr...
Age: 10 - 40 years
Gender: All
Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones
Craniosynostosis (CS) is a common malformation occurring in ~4 per 10,000 live births in
which the sutures between skull bones close too early, causing long-term problems with brain
and skull growth. Infants with CS typically require extensive surgical treatment and...
Age: Birth - 80 years
Gender: All