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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 that 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 dir.nichd.nih.gov.

Pediatric Endocrinology, Growth, and Obesity

  • Studies on endocrine, genetic, and other pediatric disorders that are associated with the predisposition to develop obesity and diabetes. Patients may be referred to Dr. Joan Han at hanjo@mail.nih.gov or 301-435-7820.
  • 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's 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 other staff at 301-496-6633 or 301-496-0862.
  • Clinical studies on endocrine and genetic disorders that are associated with obesity, and carries out clinical trials for the prevention and treatment of obesity. Patients may be referred to Dr. Jack Yanovski at yanovskj@mail.nih.gov or by calling 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. Carol Van Ryzin at 301-451-0399.
  • Clinical studies on patients with delayed puberty and hypogonadism, particularly in association with low or normal levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). Patients may be referred to Dr. Angela Delaney at delaneya@mail.nih.gov or by calling 301-827-4221.

Endocrinology

  • Research of mineral metabolism disorders, especially parathyroid disease. Patients may be referred to Dr. Karen Winer at 301-435-6877 or winerk@mail.nih.gov.
  • Investigative research on patients with pituitary and adrenal disorders, particularly those related to cortisol excess and deficiency. Patients may be referred to Dr. Lynnette Nieman at niemanl@nih.gov or at fax 301-402-0884.
  • 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.

Reproductive Endocrinology and Women's Health

  • Patient-oriented research on the reproductive, endocrine and genetic conditions which affect the endocrine glands of women, especially related to disorders of reproduction and infertility. Studies of rare and unusual reproductive diseases or development of reproductive tissues, or genetic and hereditary causes of reproductive disorders. Patients may be referred to Dr. James Segars at segarsj@mail.nih.gov or by calling 301-496-5800.
  • Investigation into uterine fibroid growth, causes, genetics, etiology, and the genetics of inherited fibroid disease through the collection and analysis of fibroid tissues. Patients may be referred to Dr. James Segars at segarsj@mail.nih.gov or by calling 301-496-5800.
  • Research on the genes that may cause cessation of ovarian function in women (primary ovarian insufficiency=POI). Studies of families with two or more first degree relatives (sisters, mother-daughter) diagnosed with POI (This study in collaboration with NHGRI). Patients may be referred to Dr. Nicole Banks at 301-402-4613, Dr. James Segars at segarsj@mail.nih.gov or by calling 301-496-5800.
  • Research on ways to help treat women with premature ovarian insufficiency (aka premature ovarian failure or primary ovarian insufficiency) using stem cells. Patients may be referred to Dr. Erin Wolff at erin.wolff@nih.gov or 301-435-7880.
  • Investigation of the endometrium from women with reproductive disorders to learn why embryos fail to implant and possible treatments of recurrent implantation failure. Patients may be referred to Dr. Erin Wolff at erin.wolff@nih.gov or 301-435-7880.
  • Studying the causes of Asherman’s syndrome (scarring of the uterine cavity) and possible novel treatments of this disorder. Patients may be referred to Dr. Erin Wolff at erin.wolff@nih.gov or 301-435-7880.
  • Investigation of the role of prematurely shortened telomeres (caps of the choromosomes) in reproductive disorders. Patients may be referred to Dr. Erin Wolff at erin.wolff@nih.gov or 301-435-7880.
  • Research on the microbiome of the reproductive tract and its effect on health and gynecologic disease. Patients may be referred to Dr. Erin Wolff at erin.wolff@nih.gov or 301-435-7880.

Clinical and Human Genetics

  • Counseling and research on patients with suspected or diagnosed genetic disorders. Patients and their families receive comprehensive evaluations, counseling, and risk assessment. Patients may be referred to Dr. Margarita Raygada at raygadam@mail.nih.gov or call 301-451-8822.
  • Studies on patients with genetic disorders related to altered cholesterol metabolism. This includes patients with Smith-Lemli-Opitz syndrome (SLOS), Autism Spectrum Disorder with low cholesterol, and Niemann-Pick Disease, type C (NPC). Patients may be referred to Dr. Forbes Porter (fdporter@mail.nih.gov), Ms. Sandra Conley (ASD and SLOS, 301-594-2005) or Ms. Nicole Yanjanin (NPC, 301-594-1765).
  • Research on understanding the regulation and functions of genes related neurodegenerative lysosomal storage disorders (LSDs) affecting children. This includes a bench-to-bedside patient treatment study investigating the mutations which cause infantile neuronal ceroid lipofuscinosis (INCL). Patients may contact Dr. Anil Mukherjee at mukherja@cc1.nichd.nih.gov.

Medical Biophysics and Novel Imaging Techniques

  • Research with normal volunteers to calibrate imaging modalities such as multispectral imaging, laser Doppler and thermal imaging and algorithms to quantify skin chromophore such as blood oxygenation and blood volume. Currently the imaging modality has been used in the clinic to study the therapeutic response of Kaposi's sarcoma patients. Subjects may be referred to Dr. Amir Gandjbakhche at amir@helix.nih.gov.

Cognitive and Social-Emotional Development

  • 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 comprised mothers with major depression, minor depression, and dysthymia at 5 months postpartum. Contact Dr. Marc Bornstein at marc_h_bornstein@nih.gov.

Perinatology Research and Obstetrics

  • Studies to predict adverse pregnancy outcome (including preeclampsia, small for gestational age, premature labor and delivery, fetal death). Patients can be referred to Dr. Roberto Romero at romeror@maih.nih.gov, Dr. Sonia Hassan at shassan@med.wayne.edu or other staff at 313-993-2700.
  • Detection of fetal congenital anomalies using two- and three-dimensional ultrasound. Patients can be referred to Dr. Sonia Hassan at shassan@med.wayne.edu or 313-993-2700.
  • Prenatal diagnosis of congenital heart disease. Patients can be referred to Dr. Lami Yeo at lyeo@med.wayne.edu or 313-993-2700.

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