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Clinical Trials at NICHD

NICHD’s DIR leads numerous clinical protocols; visit https://www.clinicaltrials.gov/search?term=nichd for a complete listing of NICHD clinical trials. The following describes selected DIR clinical trials that are recruiting participants and provides contact information for the investigator(s) conducting those studies. For detailed information on all related research projects, please review the listed investigator’s section of the annual report.

Developmental Endocrinology, Metabolism, Genetics, and Endocrine Oncology

Patient-oriented research into the etiology, pathophysiology, genetics, diagnosis, localization, and treatment of pheochromocytoma and paraganglioma. 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, which may affect the pituitary and other related organs. 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.
Research investigating the long-term effects of Cushing disease in childhood. 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. 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.
Studies on the role of genetics in the development of obesity. Contact Dr. Jack Yanovski at yanovskj@mail.nih.gov or 301-451-3783.
Studies of pediatric disorders associated with a predisposition for obesity and diabetes, including Bardet-Biedl syndrome, Alström syndrome, Prader-Willi syndrome, leptin receptor deficiency, PCSK1 deficiency, and Pro-opiomelanocortin deficiency. Contact Dr. Jack Yanovski at yanovskj@mail.nih.gov or301-451-3783.
Pharmacotherapy for excessive hunger and obesity in patients with Prader-Willi syndrome, Bardet-Biedl syndrome, and other rare disorders with known genetic causes. 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. 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 study evaluating the long-term safety and tolerability of Chronocort©, a modified-release form of hydrocortisone. Contact Dr. Deborah Merke at dmerke@nih.gov or Ms. Elizabeth Joyal at ejoyal@nih.gov.
Clinical trial to evaluate the efficacy of Crinecerfont©, a corticotropin-releasing factor type 1 receptor antagonist, for the treatment of congenital adrenal hyperplasia. Contact Dr. Deborah Merke at dmerke@nih.gov or Ms. Lee Ann Keener at leeann.keener@nih.gov or 240-858-9033.
First-in-human gene therapy trial for congenital adrenal hyperplasia. Contact Dr. Deborah Merke at dmerke@nih.gov or Ms. Elizabeth Joyal at ejoyal@nih.gov.
Studies of genetic disorders related to altered cholesterol metabolism, including Smith-Lemli-Opitz syndrome (SLOS) and Niemann-Pick Disease, type C (NPC). For SLOS studies, contact Dr. Forbes Porter at fdporter@mail.nih.gov or Dr. Samar Rahhal at samar.rahhal@nih.gov. For NPC studies, contact Ms. Desiree Labor at desiree.labor@nih.gov 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. Contact Dr. An Ngoc Dang Do at an.dangdo@nih.gov or Ms. Kisha Jenkins at 301-594-2005.
Studies of people with genetic disorders related to abnormal function of the creatine transporter gene and creatine transport deficiency. Contact Mr. John Perreault at 301-827-9235 or Mr. Derek Alexander at 301-827-0387.
Study of those with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism/hypogenitalism, Microcephaly, Obesity) syndrome, or an eIF2-pathway related disorder, and their family members. Contact Dr. An Ngoc Dang Do at an.dangdo@nih.gov or Ms. Kisha Jenkins at 301-594-2005.

Lymphatic Disorders

Studies of patients with suspected or confirmed disorders of the lymphatic system. Contact Dr. Sarah Sheppard at sarah.sheppard@nih.gov, Ms. Andrea Bowling at Andrea.Bowling@nih.gov, or the study team at NICHD_LymphaticAnoma@mail.nih.gov.

Maternal-Fetal Medicine and Translational Imaging

Studies to test and calibrate noninvasive optical imaging technology for functional brain imaging in healthy subjects. This research investigates near infrared spectroscopy (NIRS) imaging techniques that will potentially improve the feasibility and reliability of using the system to meet the needs of populations for whom existing imaging systems are unsuitable. Functional NIRS (fNIRS) is an emerging noninvasive imaging technique that assesses brain function. Its measurements are based on local changes in cerebral hemodynamic levels (oxy- and deoxyhemoglobin) associated with brain activity. Neurovascular coupling leads to local changes in oxy- and deoxyhemoglobin levels that can serve as an indirect measure of brain activity. To probe brain activity-related cortical changes in oxy- and deoxyhemoglobin concentrations, researchers administer different tasks (such as the n-back, go-no go tests) to quantify spatial and temporal brain activity. Contact Dr. Amir Gandjbakhche at gandjbaa@mail.nih.gov.
Studies of mirror neuron network (MNN) dysfunction as an early biomarker of neurodevelopmental disorder. In this study, researchers use fNIRS combined with electroencephalography (EEG) to measure brain activity in the MNN, which is associated with the development of sophisticated social behaviors that emerge in typical infants. Researchers hope that modeling MNN development will uncover a sensitive measure for deviations in social communication development before clinical behavioral deficits can be detected. MNN activation is indicated through mu rhythm suppression using EEG. The first part of the study will determine whether MNN activation can be elicited in adult participants using a motor observation and a simultaneous execution paradigm of EEG/fNIRS systems. Researchers will apply advanced machine-learning methods on signal synchronicity to examine how the features from both signals relate to each other, and to help characterize brain function in the MNN. In the next step, researchers will measure the same signals in typically developing infants and infants at risk for developmental delays when they are between 9 and 12 months of age. At-risk infants will be evaluated again at 24 months of age to detect any deviations in their social communicative development. Examining their developmental status at 24 months in relation to their initial neural data will help determine whether MNN activation can predict developmental outcomes. 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, photoplethysmography [PPG] and temperature sensor) in measuring human vital signs. Later work will explore the device as a point-of-care method for screening and treatment response monitoring of those with an infectious respiratory illness, such as COVID-19 infection. The device will measure heart, respiratory, and tissue oxygenation parameters in healthy individuals at rest and during induced hypercapnia, breath holding, and paced breathing. Contact Dr. Amir Gandjbakhche at gandjbaa@mail.nih.gov.

Pediatric and Adolescent Gynecology

Data collection study on pediatric and adolescent gynecology conditions. This study will perform deep phenotyping and data collection of children and adolescents presenting with gynecologic conditions, including congenital anomalies. 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 evaluates possible mechanisms of follicle loss/dysfunction in children with Turner syndrome and classic galactosemia, and in adolescents recently diagnosed with primary ovarian insufficiency. Ovarian tissue will be cryopreserved and stored for participant’s own future use. Contact Dr. Veronica Gomez-Lobo at veronica.gomez-lobo@nih.gov.
Biorepository for those who undergo ovarian tissue freezing before gonadotoxic therapy. In this study, researchers are creating a databank of ovarian tissue obtained during ovarian tissue cryopreservation (OTC), which is performed as standard care for fertility preservation in individuals who will receive gonadotoxic therapy. The NIH will provide OTC as a clinical service and will request a portion of the tissue to use for research. 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 can improve care for those affected. It may also elucidate possible androgen receptor-mediated explanations of differences in physiology and health in other populations. 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 identify health risks among 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 until a person undergoes routine tests during pregnancy. This work seeks to expand knowledge about discovery of 45,X mosaicism during pregnancy and how it may affect long-term health. 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. Contact Dr. Joshua Zimmerberg at zimmerbj@mail.nih.gov or Ms. Hang Waters at watershn@mail.nih.gov.

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