Ignite Creation Date:
2024-05-05 @ 10:00 AM
Last Modification Date:
2024-10-26 @ 9:04 AM
Study NCT ID:
NCT00004331
Status:
UNKNOWN
Last Update Posted:
2005-06-24
First Post:
1999-10-18
Brief Title:
Studies in Porphyria I Characterization of Enzyme Defects
Sponsor:
National Center for Research Resources NCRR
Organization:
National Center for Research Resources NCRR
Study Overview
Official Title:
None
Status:
UNKNOWN
Status Verified Date:
2003-12
Last Known Status:
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 Characterize enzyme defects in patients with known or suspected porphyria and their family members
II Determine whether selected patients are eligible for other porphyria research protocols
III Provide blood urine and fecal samples from well characterized patients and their family members to investigators studying the nature of specific mutations in genes for heme biosynthetic pathway enzymes
II Determine whether selected patients are eligible for other porphyria research protocols
III Provide blood urine and fecal samples from well characterized patients and their family members to investigators studying the nature of specific mutations in genes for heme biosynthetic pathway enzymes
Detailed Description:
PROTOCOL OUTLINE All patients are evaluated for porphyria type and factors contributing to the clinical expression of their particular form of the disease Testing includes erythrocyte porphobilinogen deaminase erythrocyte protoporphyrin plasma porphyrins and urinary and fecal porphyrins and precursors
Selected patients are entered into other porphyrin research protocols in this and other institutions including analysis of DNA to identify specific mutations in genes for heme biosynthetic pathway enzymes
Selected patients are entered into other porphyrin research protocols in this and other institutions including analysis of DNA to identify specific mutations in genes for heme biosynthetic pathway enzymes
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 |
|---|---|---|---|
| UTMB-399 | None | None | None |