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NCT00088426 · ClinicalTrials.gov registry record
Clinical and Genetic Studies on Holoprosencephaly
A clinical trial, sponsored by National Human Genome Research Institute (NHGRI).
- Completed
- Registry status
- 256
- Enrollment target
NCT00088426 is a clinical trial that has completed, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 256 participants.
The verdict
NCT00088426 has completed, sponsored by National Human Genome Research Institute (NHGRI).
- COMPLETED
- Registry status
- 256 participants
- Enrollment target
Study 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, 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 par
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 256 participants |
| Start Date | 2004-01-23 |
| Est. Completion | 2020-04-16 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00088426
The ClinicalTrials.gov registry entry for NCT00088426 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 256 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 185 total studies on file at ClinicalTrials.gov.
The record links to 0 conditions, and to 0 interventions.
NCT00088426 reports 0 study locations.
Frequently Asked Questions
What is clinical trial NCT00088426 about?
NCT00088426 is a clinical study titled "Clinical and Genetic Studies on Holoprosencephaly". 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-lo...
What is the current status of trial NCT00088426?
This trial is currently completed. The enrollment target is 256 participants. The study started on 2004-01-23. Estimated completion is 2020-04-16.
Who is sponsoring clinical trial NCT00088426?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
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