National Institutes of Health

Eunice Kennedy Shriver National Institute of Child Health and Human Development

2017 Annual Report of the Division of Intramural Research

Clinical Trials at NICHD

Numerous clinical protocols are run by the NICHD, Division of Intramural Research (for a complete listing, please visit www.clinicaltrials.gov or dir.nichd.nih.gov/dirweb/clinicaltrials.html). 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 or the DIR website at https://dir.nichd.nih.gov.

Bone and Matrix Biology in Development and Disease

  • Studies on children with osteogenesis imperfecta, both dominant and recessive forms. Current protocols focus on natural history of secondary features of OI in pulmonary function, audiology, and neurology as well as on 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 Endocrine Oncology and Genetics

  • 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.
  • Investigations on endocrine complications faced by pediatric cancer survivors. Additional studies to improve clinical care for pediatric patients with many types of endocrine cancers including pheochromocytoma, Cushing disease, and thyroid cancer. Patients may be referred to Dr. Maya Lodish at lodishma@mail.nih.gov.
  • 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 Ms. Elena Belyavskaya at 301-496-0862.
  • Research investigating the causes, complications, and treatment of Primary Aldosteronism. Patients may be referred to Dr. Andrew Demidowich at andrew.demidowich@nih.gov or Mr. Charalampos Lyssikatos at charalampos.lyssikatos@nih.gov or 301-496-6633.
  • Studies into how genetics and inflammation play a role in the development of obesity and type 2 diabetes. Patients may be referred to Dr. Andrew Demidowich at andrew.demidowich@nih.gov or Dr. Jack Yanovski at yanovskj@mail.nih.gov or 301-435-8201.

Maternal-Fetal Medicine, Imaging, and Behavioral Development

  • 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 test will be administered to quantify spatial and temporal brain activity. Subjects may be referred to Dr. Amir Gandjbakhche at amir@helix.nih.gov.
  • Studies on the processes by which the risk for psychopathology is transmitted from clinically depressed mothers to their children, over time and across several domains of child development, and how this risk can be modified by various contextual factors. The depressed group comprises mothers with major depression, minor depression, and dysthymia at 5 months postpartum. Contact Dr. Marc Bornstein at marc_h_bornstein@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.
  • Normal and Abnormal Fetal Anatomy using Three- and Four-Dimensional Ultrasound and Magnetic Resonance Imaging: In this study, we use state-of-the-art sonographic and MRI sequencing techniques to evaluate normal anatomy and function of the human fetus, cardiovascular system, neuroconnectivity, and placental hemodynamics. Imaging of the fetus and intrauterine environment is a powerful tool to assess fetal anatomy, growth, pathology, cardiovascular disorders, and neuropathology, and remains the essential tool to evaluate whether a fetus has a congenital anomaly. For more information on the study, please contact Dr. Roberto Romero at romeror@mail.nih.gov.
  • Establishment of a Clinical Perinatal Database and Bank of Biological Materials: This is an observational study that allows examination of materials from the mother (maternal blood, vaginal fluid, etc.) and umbilical cord blood. Placentas are collected after delivery. For more information on the study, please contact Dr. Roberto Romero at romeror@mail.nih.gov.

Metal Biology and Molecular Medicine

  • Studies on patients with genetic disorders related to altered copper transport. This includes patients with Menkes disease, MEDNIK syndrome, Huppke-Brendel syndrome, ATP7A-related distal motor neuropathy, and Wilson disease. Patients may be referred to Dr. Stephen Kaler at kalers@mail.nih.gov or Ms. Maryellen Rechen at rechenma@mail.nih.gov.
  • Studies on patients with genetic disorders related to lysosomal storage. This includes patients with Alpha-mannosidosis and Mucopolysaccharidosis type 3B (Sanfillipo B). Patients may be referred to Dr. Stephen Kaler at kalers@mail.nih.gov or Ms. Kristen Stevens at kristen.stevens@nih.gov.

Pediatric Endocrinology, Metabolism, and Genetics

  • Studies on pediatric disorders that are associated with the predisposition to develop obesity and diabetes. Patients may be referred to Dr. Jack Yanovski at yanovskj@mail.nih.gov or 301-496-4168.
  • 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. Padma Veeraraghavan at 301-451-0399.
  • Clinical and genetic studies of patients with disorders of puberty and reproduction, including early and late entry into puberty, and congenital central hypogonadism, including isolated GnRH deficiency. Patients may be referred to Dr. Angela Delaney at delaneya@mail.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 Ms. Dylan Hammond at 301-827-1048 or to Dr. Simona Bianconi at simona.bianconi@nih.gov.
  • 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.

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, Myoshi Myopathy (MM), Becker Muscular Dystrophy (BMD), Myoshi 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 Gynecology

  • 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.

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