Study of Bitopertin in Participants With EPP or XLP (APOLLO)
The goal of this clinical trial is to learn if bitopertin works and is safe to treat EPP or XLP in participants 12 years or older. The main questions it aims to answer are: - Whether bitopertin increases pain-free sunlight exposure after 6 months of treatment in partici...
Age: 12 years - 66+
Gender: All
EXpanding Prenatal Cell Free DNA Screening Across MoNogenic Disorders (EXPAND)
The purpose of this research is to develop and validate a single gene Non-Invasive
Prenatal Test. The development of this investigational single-gene noninvasive prenatal
testing (sgNIPT) for conditions such as cystic fibrosis (CF), spinal muscular atrophy
(SMA), Sic...
Age: 18 years - 66+
Gender: All
A Phase 2 Study of NEU-411 in Companion Diagnostic-Positive Participants With Early Parkinson's Disease
The goal of this Phase 2 clinical trial is to investigate the efficacy and safety of
NEU-411 in men and women aged 50-80 years with early Parkinson's Disease (PD) who have
predicted elevations in the activity of the "leucine-rich repeat kinase 2" ("LRRK2" for
short) ...
Age: 50 - 80 years
Gender: All
Targeted Treatment for Metastatic Prostate Cancer, The PREDICT Trial
This phase II trial evaluates whether genetic testing in prostate cancer is helpful in
deciding which study treatment patients are assigned. Patient cancer tissue samples are
obtained from a previous surgery or biopsy procedure and tested for deoxyribonucleic acid
(D...
Age: 18 years - 66+
Gender: All
A Study to Find a Suitable Dose of ASP4396 in Adults With Solid Tumors
Genes contain genetic code which tell the body which proteins to make. Some types of
cancer are caused by changes, or mutations, in a gene called KRAS. Researchers are
looking for ways to stop the actions of abnormal proteins made from the mutated KRAS
gene. The so-c...
Age: 18 years - 66+
Gender: All
Precision Medicine Study
This will be a 2 year study to evaluate and improve cancer sequencing as applied to the
characterization of tumor molecular make-up and the identification of novel therapeutics
(n=100). Participants who will undergo tumor biopsy for management of multiple myeloma
(MM...
Age: 18 years - 66+
Gender: All
An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency (OTC-HOPE)
Ornithine Transcarbamylase (OTC) deficiency, the most common urea cycle disorder, is an
inherited metabolic disorder caused by a genetic defect in a liver enzyme responsible for
detoxification of ammonia. Individuals with OTC deficiency can build-up excess levels of
...
Age: 24 hours - 7 months
Gender: Male
DCIS: RECAST Trial Ductal Carcinoma In Situ: Re-Evaluating Conditions for Active Surveillance Suitability as Treatment
The goal of this trial is to see if active surveillance monitoring and hormonal therapy
in patients diagnosed with ductal cell carcinoma in situ (DCIS), an early stage of breast
cancer, can be an effective management of the disease.
Participants will be asked to re...
Age: 18 years - 66+
Gender: Female
Oral Ifetroban in Patients with Idiopathic Pulmonary Fibrosis (IPF)
Ifetroban prevents and treats lung fibrosis due to multiple causes (bleomycin, genetic,
radiation). The safety and efficacy of oral ifetroban will be assessed in patients with
IPF.
Age: 40 years - 66+
Gender: All
A Study to Assess if BIIB122 Tablets Are Safe and Can Slow Worsening of Early-Stage Parkinson's Disease in Participants With Specific LRRK2 Genetic Variants Between the Ages of 30 and 80 Using the Movement Disorder Society-Unified Parkinson's Disease Rating Scale
In this study, researchers will learn more about a study drug called BIIB122 in participants
with early-stage Parkinson's disease (PD). The study will focus on participants with a
specific genetic variant in their LRRK2 gene.
The main question researchers are tr...
Age: 30 - 80 years
Gender: All
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
...
Age: Birth - 4 weeks
Gender: All
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
This research study is exploring the use of genomic sequencing in the newborn period to
screen healthy babies for current and future health risks. The study will enroll a diverse
cohort of 500 healthy infants and their parents from Boston, MA; New York City, NY; and...
Age: 0 - 12 months
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 of ...
Age: 18 - 90 years
Gender: All
Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015)
This is a study to evaluate the efficacy and safety of belzutifan monotherapy in
participants with advanced pheochromocytoma/paraganglioma (PPGL), pancreatic
neuroendocrine tumor (pNET), von Hippel-Lindau (VHL) disease-associated tumors, advanced
wt (wild-type) gastr...
Age: 12 years - 66+
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 r...
Age: 0 years - 66+
Gender: All
PPMI Clinical - Establishing a Deeply Phenotyped PD Cohort
The Parkinson Progression Marker Initiative (PPMI) 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)
progression in ...
Age: 30 years - 66+
Gender: All
First in Human Study of Ziftomenib in Relapsed or Refractory Acute Myeloid Leukemia
In this trial, ziftomenib, a menin-MLL(KMT2A) inhibitor, will be tested in patients for
the first time. The trial includes a Main Study and four sub-studies. In the Main Study
(including Phase 1a, Phase 1b, and Phase 2 portions), ziftomenib will be evaluated in
patie...
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 - 17 years
Gender: All