Clinical Trials at NICHD
Numerous clinical protocols are run by the NICHD, Division of Intramural Research (for a complete listing, please visit https://www.clinicaltrials.gov/ct/search;?term=nichd). The following is a list of investigators within the DIR who recruit patients, and their contact information. 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 on 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. Patients may be referred to Dr. Joan Marini at oidoc@helix.nih.gov.
- Screening and diagnosis on patients with suspected connective tissue disorders. Patients and their families receive comprehensive evaluations, counseling, and risk assessment. Patients may be referred to 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 (PHEO) and paraganglioma (PGL). Patients may be referred to Dr. Karel Pacak at karel@mail.nih.gov or Marianne Knue at marianne.knue@nih.gov or 301-827-3355.
- Research on endocrine, genetic, and other pediatric disorders that are associated with the predisposition to endocrine and other tumors, abnormal development in fetal or later life and may affect the pituitary, the adrenal and other related organs. Patients may be referred to Dr. Constantine Stratakis at stratakc@mail.nih.gov or to Dr. Elena Belyavskaya at 301-496-0862.
- Research investigating the causes, complications, and treatment of Primary Aldosteronism. Patients may be referred to Dr. Fady Hannah-Shmouni at fady.hannah-shmouni@nih.gov or Dr. Crystal Kamilaris at crystal.kamilaris@nih.gov or 301-496-6633.
- Research investigating the long-term effects of Cushing disease in childhood. Patients may be referred to 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. Patients may be referred to Dr. Constantine Stratakis at stratakc@mail.nih.gov or to Dr. Christina Tatsi at 301-451-7170.
- Studies into how genetics play a role in the development of obesity. Patients may be referred to Dr. Jack Yanovski at yanovskj@mail.nih.gov or 301-435-8201.
- 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 (POMC) deficiency. Patients may be referred to Dr. Jack Yanovski at yanovskj@mail.nih.gov or 301-496-4168.
- Pharmacotherapy of excessive hunger and obesity in patients with Prader-Willi syndrome, Bardet-Biedl syndrome, and other rare disorders with known genetic causes. Patients may be referred to Dr. Jack Yanovski at yanovskj@mail.nih.gov or 301-496-6726.
- Evaluation of patients with endocrine disorders that are associated with excess androgen, including different forms of congenital adrenal hyperplasia. Patients may be referred to Dr. Deborah Merke at dmerke@nih.gov or Ms. Elizabeth Joyal at ejoyal@nih.gov.
- Studies on 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). Patients may be referred to Dr. Forbes Porter at fdporter@mail.nih.gov or Ms. Nicole Farhat at 301-594-1765.
- Study of individuals with CLN3, or Juvenile Neuronal Ceroid-Lipofuscinosis (Juvenile Batten Disease) and their family members. Interested participants may be referred to 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 (CTD). Patients may be referred to Mr. John Perreault at 301-827-9235 or to Ms. Kisha Jenkins at 301-594-2005.
- Studies to identify novel genetic causes of idiopathic growth disorders using exome sequencing. Subjects will include children and adults with either short stature or tall stature without a known cause. Patients may be referred to 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. Interested participants may be referred to Dr. Kristina Rother at 301-435-4639 or kristina.rother@nih.gov.
Maternal-Fetal Medicine and Translational Imaging
- Studies with healthy subjects to test and calibrate non-invasive optical imaging technology for functional brain imaging. 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. Subjects may be referred to Dr. Amir Gandjbakhche at gandjbaa@mail.nih.gov.
- 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.
- Biological Markers for the Prediction of the “great obstetrical syndromes”: A Longitudinal Study. This is a prospective cohort study of biomarkers in the great obstetrical syndromes to examine the natural history of normal pregnancy and the most frequent 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
Pediatric and Adolescent Gynecology (PAG) is a relatively new subspecialty within the field of Obstetrics and Gynecology and encompasses gynecologic care from the fetal period into adulthood. Many of the conditional managed by pediatric gynecology are rare diseases and have been poorly studied. Our vision is to create a comprehensive and innovative pediatric and adolescent gynecology program within NICHD which encompasses community clinical and research resources. This program integrates regional clinical care with a post-graduate training program to populate primarily human clinical studies of gynecologic disorders that begin before puberty, to understand both childhood and adult gynecologic disease and fertility.
Proposed future studies include:
- Gonadal Tissue Freezing for Fertility Preservation in Girls at Risk for Ovarian Dysfunction and Primary Ovarian Insufficiency. This study is designed to evaluate the feasibility of experimental ovarian tissue cryopreservation for fertility preservation in children with increased risk of loss of ovarian function due to Turner syndrome or galactosemia and post-menarcheal adolescents with recent development of idiopathic primary ovarian insufficiency. For additional information, 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 in individuals with the androgen receptor gene and consequently receptor abnormalities will allow better health care for these individuals and may also begin to elucidate possible androgen receptor mediated mechanisms for differences in physiology and health in other populations. For additional information, contact Dr. Veronica Gomez-Lobo at veronica.gomez-lobo@nih.gov.
- Idiopathic Premature Ovarian Insufficiency. Little is known about the clinical phenotype of adolescents with this condition. In collaboration with Harvard Medical School/Boston Children’s Hospital, this project combines careful clinical phenotyping to increase our understanding of POI, an understudied disorder, with an evaluation of current estrogen treatment strategies, as well as novel research regarding fertility preservation options. Our results will provide new information that will be of high impact for clinical care. For additional information, contact Dr. Veronica Gomez-Lobo at veronica.gomez-lobo@nih.gov.
Physical Biology and Medicine
- Studies on patients with genetic disorders related to fragile sarcolemma muscular dystrophy. This includes Limb-Girdle Muscular Dystrophy type (LGMD) 2B-F, I, L, Miyoshi Myopathy (MM), Becker Muscular Dystrophy (BMD), Miyoshi Muscular Dystrophy–3 (MMD3). Patients may be referred to Dr. Joshua Zimmerberg at zimmerbj@mail.nih.gov or Ms. Hang Waters at watershn@mail.nih.gov.
Reproductive Endocrinology and Infertility
- Research on reproductive disorders affecting the endometrium (such as recurrent implantation failure) using endometrial biopsy. Patients can contact Dr. Alan DeCherney at decherna@mail.nih.gov or 301-594-5494.
- Research on reproductive function in sickle cell disease. Patients can contact Dr. Alan DeCherney at decherna@mail.nih.gov or 301-594-5494.
