Ignite Creation Date:
2024-05-05 @ 11:27 AM
Last Modification Date:
2024-10-26 @ 9:07 AM
Study NCT ID:
NCT00046202
Status:
RECRUITING
Last Update Posted:
2024-06-28
First Post:
2002-09-21
Brief Title:
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders
Status:
RECRUITING
Status Verified Date:
2024-08-29
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 investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis in which the body does not produce cholesterol People with this disorder may have birth defects and learning and behavioral problems
People with an inborn error of cholesterol synthesis and related disorders including Smith-Lemli-Opitz syndrome lathosterolosis desmosterolosis X-linked dominant chondrodysplasia CHILD syndrome Greenberg dysplasia and some cases of Antley-Bixler syndrome may be eligible for this study People who are carriers of the disorders also may enroll
Participants and family members will provide blood and urine samples as well as other tissue samples collected during medically indicated procedures such as biopsy or surgery These tissues may include for example gallstones cataracts cerebrospinal fluid amniotic fluid lymph tissue and DNA samples In rare instances a skin biopsy may be requested to aid in establishing a diagnosis
Medical information will also be gathered from medical records photographs and X-rays
People with an inborn error of cholesterol synthesis and related disorders including Smith-Lemli-Opitz syndrome lathosterolosis desmosterolosis X-linked dominant chondrodysplasia CHILD syndrome Greenberg dysplasia and some cases of Antley-Bixler syndrome may be eligible for this study People who are carriers of the disorders also may enroll
Participants and family members will provide blood and urine samples as well as other tissue samples collected during medically indicated procedures such as biopsy or surgery These tissues may include for example gallstones cataracts cerebrospinal fluid amniotic fluid lymph tissue and DNA samples In rare instances a skin biopsy may be requested to aid in establishing a diagnosis
Medical information will also be gathered from medical records photographs and X-rays
Detailed Description:
It is known that inborn errors of cholesterol synthesis give rise to human malformationcognitive impairment syndromes Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabolism however this group of disorders now includes lathosterolosis desmosterolosis X-linked dominant chondrodysplasia CDPX2 CHILD syndrome HEM dysplasia and some cases of Antley-Bixler syndrome 1-3 Due to the extremely rare occurrence of some of these disorders the full phenotypic spectrum has yet to be defined Cholesterol transport in cells can also cause a disorder known as Niemann-Pick Disease type C NPC NPC belongs to a group of disorders known as lysosomal storage disorders The purpose of this protocol is to 1 allow for the collection of biomaterial and medical information that can be studied to gain insight into the pathological processes 2 allow for the collection of DNA and medical information from individuals who have a phenotypic resemblance to known disorders of cholesterol synthesis lysosomal storage disorders or individuals who may be carriers of these disorders
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 |
|---|---|---|---|
| 02-CH-0311 | None | None | None |