Clinical Trial: Clinical and Genetic Studies on Holoprosencephaly

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational




Official Title: Clinical and Genetic Studies on Holoprosencephaly

Brief Summary:

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:

  • Physical and neurological examination
  • Eye examination
  • Imaging studies, such as echocardiogram, abdominal ultrasound, brain MRI
  • Electroencephalogram (EEG)
  • Hearing evaluation
  • Blood and urine samples for genetic and endocrine studies, routine blood chemistries, urinalysis, and urine electrolytes
  • Other consultations as needed
  • Possibly photographs, including front and side views of the face and other body parts that may be involved in HPE, such as the eyes, teeth, hands, and feet

Parents will be asked questions about the child's prenatal, birth, newborn, and past medical history, growth,