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Sponsored by: |
National Human Genome Research Institute (NHGRI) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00088426 |
This study will examine how holoprosencephaly (HPE) affects people, how they change over time, and what genes may be involved in the cause of the disorder. HPE is a defect of brain development in utero in which the forebrain fails to sufficiently divide into two hemispheres, resulting in a single-lobed brain and skull and facial malformations. In most cases, the defects are so severe that babies die before birth. There are three classifications of HPE. In alobar HPE the brain does not divide at all; this form is usually associated with severe facial deformities. In semilobar HPE the hemispheres divide somewhat, causing an intermediate form of the disorder. In lobar HPE, the mildest form, separation of hemispheres is nearly normal.
Patients with HPE and their direct blood relatives may participate in this study. Patients are seen by a team of medical specialists at the NIH Clinical Center for the following procedures:
Parents will be asked questions about the child's prenatal, birth, newborn, and past medical history, growth, behavior and development, and therapy and medication.
Because HPE is a genetic disorder and gene changes can be passed on in a family, parents will also be asked to undergo the following procedures:
Parents will meet with a doctor and a genetics nurse to discuss the results of the tests and answer questions. Parents may be asked to bring their child back to the NIH after 2 years for follow-up examination and possible additional or repeat testing.
Condition |
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Holoprosencephaly |
Study Type: | Observational |
Official Title: | Clinical and Genetic Studies on Holoprosencephaly |
Estimated Enrollment: | 250 |
Study Start Date: | January 2004 |
Holoprosencephaly (HPE) is a defect of midline forebrain development that occurs soon after conception. It has a prevalence of 1 in 250 during early embryo development, and 1 in 10,000 to 1 in 20,000 at term. In live born infants, the abnormalities associated with HPE are divided into three main categories: alobar, semilobar, and lobar HPE. A fourth variant, middle interhemispheric fusion, has also been recognized. The purpose of the present study is to increase our understanding of the genetic and clinical manifestations of HPE through detailed physical, psychological, developmental, neurologic endocrinologic, and radiologic studies. We will examine the spectrum of clinical characteristics of HPE to facilitate early diagnosis and clinical management, including genetic counseling. Finally, we plan to assess the psychosocial impact of HPE on the family as a unit. Most patients and their families will be seen at the NIH Clinical Center. A subset may be examined outside the NIH, and a further subset, for the psychosocial studies, may be interviewed by phone.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
INCLUSION CRITERIA:
EXCLUSION CRITERIA:
Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
Contact: TTY | 1-866-411-1010 |
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
Bethesda, Maryland, United States, 20892 |
Study ID Numbers: | 040093, 04-HG-0093 |
Study First Received: | July 23, 2004 |
Last Updated: | November 25, 2008 |
ClinicalTrials.gov Identifier: | NCT00088426 |
Health Authority: | United States: Federal Government |
Holoprosencephaly HPE Holoprosencephaly HPE |
Chromosomal abnormalities Genetic Diseases, Inborn Musculoskeletal Diseases Nervous System Malformations Holoprosencephaly |
Craniofacial Abnormalities Chromosome Disorders Abnormalities, Multiple Congenital Abnormalities Musculoskeletal Abnormalities |
Nervous System Diseases |