Ignite Creation Date:
2024-05-05 @ 11:32 AM
Last Modification Date:
2024-10-26 @ 9:09 AM
Study NCT ID:
NCT00071903
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2003-11-03
Brief Title:
The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis A Case-Control Study
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:
The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis A Case-Control Study
Status:
COMPLETED
Status Verified Date:
2008-07-18
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 whether the tendency to have thrombosis or the formation of blood clots inside blood vessels has a role in the development of pseudotumor cerebri PTC PTC causes symptoms and signs of isolated elevated blood pressure in the cranium or covering of the brain The disorder can lead to significant negative effects on the visual system Increased pressure of the cerebrospinal fluid that is fluid around the brain is a factor but the cause of the disorder is not clear There has been documentation of clustering of PTC within families It suggests that potential genetic polymorphisms-abilities to take on different forms-may become evident after exposure to conditions known to trigger PTC
Thrombosis comes about by interactions between genetic and environmental or acquired factors or both resulting in a blood clot at a specific time and location Because the disease occurs in episodes the interaction of the genetic and nongenetic risk factors is important Cystinosis is a recessive disorder caused by deposits of cystine within the lysosomes of cells-that is sac-like cell parts that contain various enzymes Involvement of the kidneys remains the primary characteristic eventually leading to renal failure Of all of the risk factors that make it easier for blood clotting a high level of a substance called homocysteine is of particular interest Too much homocysteine in blood plasma is a common finding in patients with kidney failure and it has been recently identified as an independent risk factor for diseases of the blood vessels
Participants of all ages who meet the Dandy criteria for PTC may be eligible for this study Pregnant women will be excluded There will also be a control group of nephropathic cystinosis patients who do not have PTC
Participants will be asked to undergo the following tests and procedures
Medical history
Physical examination to evaluate the eye and nervous systems
Collection of blood for DNA and other tests
Collection of cerebrospinal fluid through a procedure called lumbar puncture or spinal tap
The evaluation of patients will generally last 3 to 4 days For the collection of cerebrospinal fluid the patients skin on the back will be numbed with a local anesthetic A special needle will be inserted into the back and a small amount of the fluid will be drawn through the needle There will be pain for a minute although there can be a headache lasting 24 hours Also there may be bruising local pain bleeding or infection where the needle enters Patients may also have a magnetic resonance imaging scan of their head During the MRI scan patients will lie still on a table that slides in and out of a metal cylinder surrounded by a strong magnetic field Patients will be able to communicate with the MRI staff at all times and may ask to be moved out of the machine at any time
Thrombosis comes about by interactions between genetic and environmental or acquired factors or both resulting in a blood clot at a specific time and location Because the disease occurs in episodes the interaction of the genetic and nongenetic risk factors is important Cystinosis is a recessive disorder caused by deposits of cystine within the lysosomes of cells-that is sac-like cell parts that contain various enzymes Involvement of the kidneys remains the primary characteristic eventually leading to renal failure Of all of the risk factors that make it easier for blood clotting a high level of a substance called homocysteine is of particular interest Too much homocysteine in blood plasma is a common finding in patients with kidney failure and it has been recently identified as an independent risk factor for diseases of the blood vessels
Participants of all ages who meet the Dandy criteria for PTC may be eligible for this study Pregnant women will be excluded There will also be a control group of nephropathic cystinosis patients who do not have PTC
Participants will be asked to undergo the following tests and procedures
Medical history
Physical examination to evaluate the eye and nervous systems
Collection of blood for DNA and other tests
Collection of cerebrospinal fluid through a procedure called lumbar puncture or spinal tap
The evaluation of patients will generally last 3 to 4 days For the collection of cerebrospinal fluid the patients skin on the back will be numbed with a local anesthetic A special needle will be inserted into the back and a small amount of the fluid will be drawn through the needle There will be pain for a minute although there can be a headache lasting 24 hours Also there may be bruising local pain bleeding or infection where the needle enters Patients may also have a magnetic resonance imaging scan of their head During the MRI scan patients will lie still on a table that slides in and out of a metal cylinder surrounded by a strong magnetic field Patients will be able to communicate with the MRI staff at all times and may ask to be moved out of the machine at any time
Detailed Description:
During the follow-up of cystinosis patients under protocol 78-HG-0093 Use of Cysteamine in the Treatment of Cystinosis we found that 6 of our NIH patients developed papilledema and were diagnosed with pseudotumor cerebri PTC whose occurrence has not been previously reported in cystinosis The goal of this protocol is to identify the role of thrombosis susceptibility in the development of PTC in nephropathic cystinosis patients in view of our recent findings regarding genetic susceptibility to thrombosis in PTC in general We propose a case-control study A total of 9 nephropathic cystinosis patients who developed PTC and 9 control nephropathic cystinosis patients without PTC will be screened based upon a thrombosis susceptibility screening panel including total homocysteine protein C and S antithrombin III fibrinogen Factor VIII Factor IX Factor XI levels testing for PT PTT activated protein C resistance antiphospholipid antibodies ACA panel and Lupus AC and screening for FV Leiden mutation FV G1628A polymorphism FV R2 allele Prothrombin 20210 mutation and 510-methylenetetrahydrofolate reductase MTHFR gene C677T polymorphism in patients with severe homocysteinemia greater than or equal to 100 micro moll
We will compare the prevalence of the factors that lead to thrombosis susceptibility in the cases and controls
We will compare the prevalence of the factors that lead to thrombosis susceptibility in the cases and controls
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
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-CH-0010 | None | None | None |