Status:
COMPLETED
A Study of the Genetic Analysis of Brain Disorders
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Conditions:
Holoprosencephaly
Eligibility:
All Genders
1+ years
Brief Summary
A study of the complex genetics of brain development will be undertaken with an emphasis on those genes that cause the most common structural brain anomaly in humans called holoprosencephaly (HPE). Th...
Detailed Description
Holoprosencephaly (HPE) covers a nearly continuous spectrum of midline abnormalities ranging from unmistakable cyclopia with absence of forebrain separation to mild microforms, such a single central i...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- This research is open to all participants with a known or suspected diagnosis of HPE or related brain malformations. Since the range of severity of HPE is extensive, we accept cases compatible with a wide HPE spectrum of findings. All races and genders are known to be at risk for HPE, anywhere in the world. Nationality or place of origin are not specific barriers to participation, provided that a blood tissue sample can be safely sent by international FedEx (to be billed to our account).
- Direct blood relatives (typically parents, and occasionally siblings of affected individuals) of patients with HPE are also eligible to participate.
- Pregnant women with a fetus with imaging evidence of holoprosencephaly. Most pregnancies affected by holoprosencephaly do not survive to term; therefore, pregnant women will be included in the study. DNA obtained from pregnant women (amniocytes and blood) will be analyzed for genetic etiologies. This will allow for recurrence risk assessment and genetic counseling.
- EXCLUSION CRITERIA:
- Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent.
- Medical condition(s) or cognitive impairment are not in themselves reason for exclusion if in the judgement 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 matter 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 due to Trisomy 13 or 18 might not be considered directly related to current research). This almost never happens, and we would attempt to make referrals to a more appropriate investigator before a sample is sent to the NIH. Although not desirable, we will accept samples with a suspected diagnosis of HPE where this determination was made by the referring physician independent of any input from our HPE team. In such circumstances, we would likely verify by correspondence that a sample had been received and request further information.
Exclusion
Key Trial Info
Start Date :
June 1 2008
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
January 19 2021
Estimated Enrollment :
5735 Patients enrolled
Trial Details
Trial ID
NCT00645645
Start Date
June 1 2008
End Date
January 19 2021
Last Update
December 14 2021
Active Locations (1)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892