Ignite Creation Date:
2024-05-05 @ 5:01 PM
Last Modification Date:
2024-10-26 @ 9:27 AM
Study NCT ID:
NCT00369421
Status:
RECRUITING
Last Update Posted:
2024-07-03
First Post:
2006-08-25
Brief Title:
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism or Other Genetic Disorders
Status:
RECRUITING
Status Verified Date:
2024-10-09
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:
Researchers intend on diagnosing and treating certain inborn errors of metabolism By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research teaching and clinical experience
Patients participating in this study will be examined and treated on an out patient basis if practical However patients requiring specialized tests or treatments will be admitted to the NIH Clinical Center as necessary Researchers will use only accepted medical procedures in diagnosing medical history physical examinations X-ray studies eye examinations blood tests and urine tests and treating the patients involved in this study Additional tests may be required on a case to case basis
Many patients seen in this study will go on to be enrolled in a specific disease-related research studyTAB
Patients participating in this study will be examined and treated on an out patient basis if practical However patients requiring specialized tests or treatments will be admitted to the NIH Clinical Center as necessary Researchers will use only accepted medical procedures in diagnosing medical history physical examinations X-ray studies eye examinations blood tests and urine tests and treating the patients involved in this study Additional tests may be required on a case to case basis
Many patients seen in this study will go on to be enrolled in a specific disease-related research studyTAB
Detailed Description:
Study Description
We propose to characterize the etiology and natural history of rare inborn errors of metabolism and other genetic disorders both known and yet-to-be discovered In so doing we will expand our knowledge about these disorders and provide access to patients of interest for research teaching and clinical experience
Objectives
The overall aim of this protocol is to advance our knowledge of genetic disorders
We propose to characterize the etiology and natural history of rare inborn errors of metabolism and other genetic disorders both known and yet-to-be discovered In so doing we will expand our knowledge about these disorders and provide access to patients of interest for research teaching and clinical experience
Objectives
The overall aim of this protocol is to advance our knowledge of genetic 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 |
|---|---|---|---|
| 76-HG-0238 | None | None | None |