Clinical Trials at NICHD
NICHD’s Division of Intramural Research (DIR) runs numerous clinical protocols (visit https://www.clinicaltrials.gov/ct/search;?term=nichd for a complete list of NICHD clinical trials.) The following lists and provides contact information for DIR investigators who recruit patients for clinical studies. For detailed information on all related research projects, please see the listed investigator’s section of the report.
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. Alberta Derkyi and Ms. Sara Talvacchio at ppglgroup@mail.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 or Ms. Samah Agabein at samah.agabein@nih.gov or 301-451-7615.
- Investigations on 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 of the safety and efficacy of pegvisomant to treat children and adolescents with growth hormone excess, including those whose disease persists after surgical and/or radiation treatment, and those who are ineligible for those treatments. For more information on the study, please contact Dr. Christina Tatsi or Ms. Samah Agabein at samah.agabein@nih.gov or 301-451-7615.
- Studies into the role genetics plays 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 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 for 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.
- Clinical trial to evaluate the long-term safety and tolerability of Chronocort© a modified release form of hydrocortisone. For more information on the trial, please contact Dr. Deborah Merke at dmerke@nih.gov or Ms. Elizabeth Joyal at ejoyal@nih.gov.
- First-in-human gene therapy trial for congenital adrenal hyperplasia. For more information on the trial, please contact Dr. Deborah Merke at dmerke@nih.gov or Ms. Elizabeth Joyal at ejoyal@nih.gov.
- Studies of patients with genetic disorders related to altered cholesterol metabolism, including those 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 Ms. Aishwarya Selvaraman at aishwarya.selvaraman@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.
- Studies 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/genome 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 Dr. Jeffrey Baron at baronj@cc1.nichd.nih.gov or Dr. Youn Hee Jee at jeeyh@mail.nih.gov.
Lymphatic Disorders
- Studies, awaiting Institutional Review Board approval (expected mid-2023), of patients with suspected or confirmed disorders of the lymphatic system. For more information on this study, please contact Dr. Sarah Sheppard at sarah.sheppard@nih.gov or the study team at NICHD_LymphaticAnoma@mail.nih.gov.
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.
- 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.
Pediatric and Adolescent Gynecology
- Data collection study on 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.
- Biorepository for those who undergo ovarian tissue freezing before gonadotoxic therapy. This study will create a databank of ovarian tissue obtained during ovarian tissue cryopreservation which is performed as standard care for fertility preservation in individuals who will be treated with gonadotoxic therapy. The NIH will provide ovarian tissue cryopreservation (OTC) as a clinical service and will request a portion of the tissue to use for research. For more information on the study, please contact Dr. Veronica Gomez-Lobo at veronica.gomez-lobo@nih.gov.
- Studies on androgen receptor sensitivity and implications for health and wellbeing: A 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.
- Study of fertility attitudes of adolescents and young adults with Turner Syndrome and their parents/guardians (Fertility ConcepTS). The purpose of this study is to improve our understanding of attitudes of individuals with Turner syndrome (TS) and their parents/guardians towards fertility, fertility preservation and options for building a family by developing and disseminating a fertility attitudes survey of adolescents and young adults (AYA) with TS and their parents/guardians. For more information on the study, please contact Dr. Veronica Gomez-Lobo at veronica.gomez-lobo@nih.gov.
- Implications of maternal 45,X mosaicism as a secondary genomic finding following cell-free DNA sequencing during pregnancy. This natural history study will look for health risks in people with 45,X mosaicism discovered during pregnancy. Mosaicism is a condition in which cells within the same person have a different genetic makeup. Sometimes, a type of mosaicism called 45,X may not be discovered in a woman until she undergoes routine tests during pregnancy. Little is known about how 45,X mosaicism when discovered during pregnancy may affect a person’s long-term health. 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
- Endometrial biopsy studies 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.
