Clinical and Genetic Studies on Holoprosencephaly

Completed

Conditions studied: Holoprosencephaly, HPE, Developmental Delay Disorders, Brain Disorders

In brief

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, 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: * Completion of a medical and family history form * Physical and neurological examination * Blood and urine samples (for mothers only) * Specialty consultations as indicated * 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 * Psychosocial study. Some parents will be asked to participate in a telephone interview or complete a questionnaire, or both, about their attitudes, beliefs, and concerns about how they and their family cope with their child's condition. Some questionnaires may include questions about aspects of their marriage and personal feelings and experiences. 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. ...

Key facts

Study ID

NCT00088426

Run by

National Human Genome Research Institute (NHGRI)

People needed

256

Starts

2004-01-23

Expected to finish

2020-04-16

Last updated by the study team

2020-04-20

Who can join

Age: 0 and older. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

• Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
• Medical condition(s) or mental retardation are not in themselves reason for exclusion if in the judgment of the referring physician this would involve no more than minimal risk. We anticipate that children with mental handicaps would be included in the research population. We will make every effort to explain the study for the purpose of assent in a manner that the family feels is both age and developmentally appropriate for that child.
• We generally review a brief clinical description from the referring physician about a potential research subject to determine that the subject is appropriate to enter into the study. We reserve the right to exclude cases that are clearly not HPE or related to our direct research interests (e.g. HPE cases that are syndromic like Smith Lemli Opitz syndrome, Trisomy 13, Trisomy 18, drug-related, or teratogen-related). This almost never happens, and we would attempt to make referrals to a more appropriate investigator.
• It is our intention to try to remove as many economic, cultural, geographic, racial, and gender barriers as we reasonably can to promote participation of HPE cases for research purposes.
• Description and justification of clinical inclusion/exclusion criteria for environmental study arm control group (individuals with Williams syndrome) :
• Participants must have a confirmed diagnosis of Williams syndrome caused by deletions in chromosome 7q11 involving the Williams-Beuren Syndrome Critical Region (WBSCR). Children should be less than 6 years of age to allow for improved maternal recall of prenatal
• environmental exposures. The Williams syndrome cohort (PI: Dr. Beth Kozel; National Heart Lung Blood Institute) was chosen to allow for inherent biases in mothers who have children with multiple anomaly syndromes.

Where it is running

• National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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