Clinical Trials at NICHD
NICHD’s Division of Intramural Research (DIR) runs numerous clinical protocols. (For a complete listing of NICHD clinical trials, visit https://www.clinicaltrials.gov/ct/search;?term=nichd.) The following lists names and contact information for DIR investigators who recruit patients for their studies. For detailed information on all related research projects, please check the individual investigator’s listing in the report.
Bone and Matrix Biology in Development and Disease
- Natural history studies of children and adults with osteogenesis imperfecta, both dominant and recessive forms. Secondary features are a focus, including scoliosis, cardio-pulmonary and metabolic function, audiology and basilar invagination, as well as identification of causative genetic mutations. For more information on the study, please contact Dr. Joan Marini at oidoc@helix.nih.gov.
- Screening and diagnosis of patients with suspected connective tissue disorders, especially rare forms of osteogenesis imperfecta, other bone fragility disorders and melorheostosis. Patients and their families receive comprehensive evaluations, counseling, and risk assessment. For more information on the study, please contact Dr. Joan Marini at oidoc@helix.nih.gov.
Developmental Endocrinology, Metabolism, Genetics, and Endocrine Oncology
- Patient-oriented research into the etiology, pathophysiology, genetics, diagnosis, localization, and treatment of pheochromocytoma and paraganglioma. For more information on the study, please contact Dr. Karel Pacak at karel@mail.nih.gov or Ms. Sara Talvacchio at sara.talvacchio@nih.gov.
- Research on endocrine, genetic, and other pediatric disorders associated with endocrine and other tumors that may affect the pituitary and other related organs. For more information on the study, please contact Dr. Christina Tatsi at christina.tatsi3@nih.gov or 301-451-7170, Dr. Constantine Stratakis at stratakc@mail.nih.gov, or Dr. Elena Belyavskaya at 301-496-0862.
- Research investigating the causes, complications, and treatment of primary aldosteronism. For more information on the study, please contact Dr. Crystal Kamilaris at crystal.kamilaris@nih.gov.
- Research investigating the long-term effects of Cushing disease in childhood. For more information on the study, please contact Dr. Meg Keil at keilm@mail.nih.gov or 301-435-3391.
- Study on the safety and efficacy of pegvisomant in children and adolescents with growth hormone excess, who have persistent disease after surgical and/or radiation treatment or are not eligible for those. For more information on the study, please contact Dr. Christina Tatsi at 301-451-7170 or Dr. Constantine Stratakis at stratakc@mail.nih.gov.
- Studies into how genetics play a role in the development of obesity. For more information on the study, please contact Dr. Jack Yanovski at yanovskj@mail.nih.gov or 301-451-3783.
- Studies on pediatric disorders that are associated with the predisposition to develop obesity and diabetes including Bardet-Biedl syndrome, Alström syndrome, Prader-Willi syndrome, leptin receptor deficiency, PCSK1 deficiency, and Pro-opiomelanocortin deficiency. For more information on the study, please contact Dr. Jack Yanovski at yanovskj@mail.nih.gov or 301-451-3783.
- Pharmacotherapy of excessive hunger and obesity in patients with Prader-Willi syndrome, Bardet-Biedl syndrome, and other rare disorders with known genetic causes. For more information on the study, please contact Dr. Jack Yanovski at yanovskj@mail.nih.gov or 301-451-3783.
- Evaluation of patients with endocrine disorders associated with excess androgen, including different forms of congenital adrenal hyperplasia. For more information on the study, please contact Dr. Deborah Merke at dmerke@nih.gov, Ms. Amy Moon at amy.moon@nih.gov, or Ms. Lee Ann Keener at leeann.keener@nih.gov or 240-858-9033.
- Studies of patients with genetic disorders related to altered cholesterol metabolism. This includes patients with Smith-Lemli-Opitz syndrome (SLOS) and Niemann-Pick Disease, type C (NPC). For SLOS, please contact Dr. Forbes Porter at fdporter@mail.nih.gov, Dr. Samar Rahhal at samar.rahhal@nih.gov, or Mr. Tristan Furnary at tristan.furnary@nih.gov. For NPC, please contact Dr. Forbes Porter at fdporter@mail.nih.gov, Ms. Nicole Farhat at 301-594-1765, or Mr. Derek Alexander at 301-827-0387.
- Study of individuals with CLN3, or Juvenile Neuronal Ceroid-Lipofuscinosis/Juvenile Batten Disease, and their family members. For more information on the study, please contact Dr. An Ngoc Dang Do at an.dangdo@nih.gov or Ms. Kisha Jenkins at 301-594-2005.
- Studies of patients with genetic disorders related to an abnormal function of the creatine transporter gene, causing creatine transport deficiency. For more information on the study, please contact Mr. John Perreault at 301-827-9235 or Mr. Derek Alexander at 301-827-0387.
- Studies using exome sequencing to identify novel genetic causes of idiopathic growth disorders in children and adults with either short stature or tall stature without a known cause. For more information on the study, please contact For more information on the study, please contact Dr. Jeffrey Baron at baronj@cc1.nichd.nih.gov or Dr. Youn Hee Jee at jeeyh@mail.nih.gov.
- Studies on metabolic effects of food additives (high-intensity sweeteners) with special focus on pregnancy, and prenatal and infantile development. For more information on the study, please contact Dr. Kristina Rother at kristina.rother@nih.gov or 301-435-4639.
Maternal-Fetal Medicine, Imaging, and Behavioral Development
- Studies to test and calibrate noninvasive optical imaging technology for functional brain imaging in healthy subjects. The study is important to investigate the NIRS imaging system to explore techniques that will potentially improve the feasibility and reliability of the system according to the needs of the population whom existing imaging systems are unsuitable for. Functional near infrared spectroscopy (fNIRS) is an emerging non-invasive imaging technique to assess brain function. fNIRS measurements are based on the local changes in cerebral hemodynamic levels (oxy-hemoglobin and deoxy-hemoglobin) associated with brain activity. Due to neuro-vascular coupling, local changes in oxyhemoglobin and deoxyhemoglobin levels can serve as an indirect measure of brain activity. To probe changes in Oxy- and Deoxy-hemoglobin concentrations in the cortex that are caused by brain activity, different tasks such as the n-back, go-nogo tests will be administered to quantify spatial and temporal brain activity. For more information on the study, please contact Dr. Amir Gandjbakhche at gandjbaa@mail.nih.gov.
- Studies of mirror neuron network dysfunction as an early biomarker of neurodevelopmental disorder. In this study, functional near-infrared spectroscopy (fNIRS) combined with electroencephalography (EEG) to measure brain activity in the mirror neuron network (MNN). The MNN is associated with the development of sophisticated social behaviors that emerge in typical infants. By modeling MNN development, we hope to uncover a sensitive measure of deviations in social communication development before clinical behavioral deficits can be detected. MNN activation has been indicated through mu rhythm suppression using EEG. The first part of the study involves adult subjects to determine whether MNN activation can be elicited, using a motor observation and a simultaneous execution paradigm using EEG/fNIRS systems. The synchronicity of these signals using more advanced machine learning methods to examine how the features from both signals relate to each other and help characterize brain function in the mirror neuron network. In the next step, typically developing infants and infants at risk for developmental delays from 9–12 months of age are recruited. At-risk infants will be brought in again at 24 months of age to evaluate any deviations in their social communicative development. We will examine their developmental status at 24 months in relation to their initial neural data to determine whether MNN activation can predict developmental outcomes. For more information on the study, please contact Dr. Amir Gandjbakhche at gandjbaa@mail.nih.gov.
- A pilot study to evaluate a noninvasive multimodal biosensing device for screening and monitoring response to treatment of infectious respiratory diseases. This observational pilot study will characterize the performance of a multimodal biosensor device (portable NIRS device, PPG and temperature sensor) in measuring human vital signs, which later will be explored as a point-of-care method for screening and treatment response monitoring of individuals with an infectious respiratory illness such as COVID-19 infection. The device will measure heart, respiratory, and tissue oxygenation parameters in healthy subjects at rest and during induced hypercapnia, breath holding, and paced breathing. For more information on the study, please contact Dr. Amir Gandjbakhche at gandjbaa@mail.nih.gov.
- A longitudinal study of biological markers for the prediction of the “great obstetrical syndromes.” This is a prospective cohort study of biomarkers in the great obstetrical syndromes to examine the natural history of normal pregnancy and the most common pregnancy complications. The goal is to develop sensitive, specific, and parsimonious predictive models to identify the patients at risk for developing complications of pregnancy using a combination of clinical and biological markers (biochemical and biophysical). For more information on the study, please contact Dr. Roberto Romero at romeror@mail.nih.gov.
Pediatric and Adolescent Gynecology
- Data collection study of pediatric and adolescent gynecology conditions. This study is designed to perform deep phenotyping and data collection of children and adolescents presenting with gynecologic conditions including congenital anomalies. For more information on the study, please contact Dr. Veronica Gomez-Lobo at veronica.gomez-lobo@nih.gov.
- Gonadal tissue freezing for fertility preservation in girls at risk for ovarian dysfunction and primary ovarian insufficiency. This study is designed to evaluate possible mechanisms of follicle loss/dysfunction in children with Turner syndrome and classic galactosemia, and in adolescents recently diagnosed with premature ovarian insufficiency. Ovarian tissue will be cryopreserved and stored for patient’s own future use. For more information on the study, please contact Dr. Veronica Gomez-Lobo at veronica.gomez-lobo@nih.gov.
- Androgen receptor, implications for health and wellbeing: natural history study of patients with androgen insensitivity. Research on androgen receptor genes and receptor abnormalities to improve care for those affected and elucidate possible androgen receptor-mediated explanations for differences in physiology and health in other populations. For more information on the study, please contact Dr. Veronica Gomez-Lobo at veronica.gomez-lobo@nih.gov.
Physical Biology and Medicine
- Studies of genetic disorders related to fragile sarcolemma muscular dystrophy, including Limb-Girdle Muscular Dystrophy type 2B-F, I, L, Myoshi Myopathy, Becker Muscular Dystrophy, and Myoshi Muscular Dystrophy-3. For more information on the study, please contact Dr. Joshua Zimmerberg at zimmerbj@mail.nih.gov or Ms. Hang Waters at watershn@mail.nih.gov.
Reproductive Endocrinology and Gynecology
- Studies, using endometrial biopsy, of reproductive disorders that affect the endometrium, such as recurrent implantation failure. For more information on the study, please contact Dr. Alan DeCherney at decherna@mail.nih.gov or 301-594-5494.
- Studies of reproductive function in sickle cell disease and individuals undergoing cytotoxic gonadal therapy, including fertility preservation (oocyte freezing) For more information on the study, please contact Dr. Alan DeCherney at decherna@mail.nih.gov or 301-594-5494.
