National Institutes of Health

Eunice Kennedy Shriver National Institute of Child Health and Human Development

2015 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 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 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. Jack Yanovski at yanovskj@mail.nih.gov or 301-496-4168.
  • 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.
  • 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. Terri McHugh at 301-451-0399.
  • Clinical and genetic studies of patients with disorders of puberty and reproduction, including early and late entry into puberty, and amenorrhea or infertility due to central hypogonadism, including isolated GnRH deficiency. Patients may be referred to Dr. Angela Delaney at delaneya@mail.nih.gov.

Adult Endocrinology

  • 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

  • Research on uncommon reproductive disorders, including developmental abnormalities of the female reproductive tract. Patients may be referred to Dr. Alan DeCherney at decherna@mail.nih.gov, or a clinical research nurse at 301-435-7926. (Please note that this protocol does not include disorders for which assisted reproduction is indicated or has been advised.)
  • Research on reproductive disorders affecting the endometrium (such as recurrent implantation failure) using endometrial biopsy. Patients can contact Jackie Nottidge at jacqueline.nottidge@nih.gov or 301-435-7926.
  • Research on reproductive function in sickle cell disease. Patients can contact Jackie Nottidge at jacqueline.nottidge@nih.gov or 301-435-7926.
  • Research on ovarian stem cells and how they impact infertility. Patients can contact Jackie Nottidge at jacqueline.nottidge@nih.gov or 301-435-7926.
  • Fertility preservation (oocyte freezing) for women scheduled to undergo gonadotoxic therapies such as chemotherapy and radiation. Patients can contact Jackie Nottidge at jacqueline.nottidge@nih.gov or 301-435-7926.
  • Research on endometriosis and pain, HPV vaccination after stem cell transplant, and genital graft versus host disease. Patients may be referred to Dr. Pamela Stratton at strattop@mail.nih.gov or her research line at 301-496-1190.
  • Investigation of the role of the neuropeptide kisspeptin on female reproductive physiology. Patients may be referred to Dr. Angela Delaney at delaneya@mail.nih.gov.

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) and Niemann-Pick Disease, type C (NPC). Patients may be referred to Dr. Forbes Porter at fdporter@mail.nih.gov, Ms. Lee Ann Keener (301-594-2005), or Ms. Nicole Farhat (301-594-1765).
  • 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.
  • Studies to identify novel genetic causes of idiopathic growth disorders using whole-exome sequencing. Subjects will include children and adults with a clearly recognizable phenotype that includes either short stature or tall stature and a pedigree that strongly suggests a monogenic inheritance. Patients may be referred to Dr. Jeffrey Baron at baronj@cc1.nichd.nih.gov.
  • 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.

Medical Biophysics and Novel Imaging Techniques

  • Studies with healthy subjects to evaluate the age-dependent characteristics of cervical structure and collagen noninvasively by illumination of the cervix area using polarized light. The study is important to evaluate pregnant women who are at risk of early cervical dilation during pregnancy. Subjects may be referred to Dr. Amir Gandjbakhche at amir@helix.nih.gov.
  • Research with normal volunteers to calibrate imaging modalities such as multispectral imaging, laser Doppler and thermal imaging, and algorithms to quantify skin chromophores 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 comprises mothers with major depression, minor depression, and dysthymia at 5 months postpartum. Contact Dr. Marc Bornstein at marc_h_bornstein@nih.gov.

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