Ignite Creation Date:
2024-05-05 @ 10:22 AM
Last Modification Date:
2024-10-26 @ 9:04 AM
Study NCT ID:
NCT00004341
Status:
UNKNOWN
Last Update Posted:
2005-06-24
First Post:
1999-10-18
Brief Title:
Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
Office of Rare Diseases ORD
Study Overview
Official Title:
None
Status:
UNKNOWN
Status Verified Date:
2003-10
Last Known Status:
ACTIVE_NOT_RECRUITING
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:
OBJECTIVES I Identify the molecular defects responsible for primary immunodeficiency disorders
II Explore the mutations within each syndrome to better understand the genetics of these disorders
III Study the function of the Wiskott-Aldrich syndrome proteins WASP IV Design methods to identify carriers and for prenatal diagnosis V Explore new avenues for therapy
II Explore the mutations within each syndrome to better understand the genetics of these disorders
III Study the function of the Wiskott-Aldrich syndrome proteins WASP IV Design methods to identify carriers and for prenatal diagnosis V Explore new avenues for therapy
Detailed Description:
PROTOCOL OUTLINE Patients are studied systematically to determine the extent of their immune deficiency and to confirm a specific diagnosis Patients with a known immunodeficiency syndrome are studied in detail to identify the gene mutation to assess the effect of the mutation on the gene product and to establish cell lines for further in vitro assessment of the genetic defect The function of Wiskott-Aldrich syndrome proteins WASP in hematopoietic cells is studied
Family members of patients with X-linked disorders are studied to identify carrier females
Family members of patients with X-linked disorders are studied to identify carrier females
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| UW-533 | None | None | None |