Ignite Creation Date:
2024-05-05 @ 11:35 AM
Last Modification Date:
2024-10-26 @ 9:10 AM
Study NCT ID:
NCT00088426
Status:
COMPLETED
Last Update Posted:
2020-04-20
First Post:
2004-07-23
Brief Title:
Clinical and Genetic Studies on Holoprosencephaly
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical and Genetic Studies on Holoprosencephaly
Status:
COMPLETED
Status Verified Date:
2020-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 childs 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 childs 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
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 childs 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 childs 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
Detailed Description:
Holoprosencephaly HPE is a defect of midline forebrain development that occurs soon after conception It has a prevalence of 1 in 250 during early embryonic development and 1 in 10000 to 1 in 20000 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 variant has also been recognized The purpose of this 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 04-HG-0093 | None | None | None |