The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study
Data Collection
Urogenital Diseases+22
+ Brain Diseases
+ Cardiovascular Diseases
Summary
Study start date: October 30, 2003
Actual date on which the first participant was enrolled.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 5,10-methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism in patients with severe homocysteinemia (greater than or equal to 100 micro mol/l). We will compare the prevalence of the factors that lead to thrombosis susceptibility in the cases and controls.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.18 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.From 2 to 50 Years
Range of ages for which participants are eligible to join.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
* INCLUSION CRITERIA: The inclusion criteria include only a confirmed diagnosis of pseudotumor cerebri (past or present) in a patient with nephropathic cystinosis. Patients will be diagnosed as having pseudotumor cerebri based upon modified Dandy criteria: 1. signs and symptoms related to increased intracranial pressure; 2. no localizing neurological signs with the exception of unilateral or bilateral sixth nerve palsy; 3. neuroimaging study showing no mass lesion or hydrocephalus; 4. elevated opening pressure with normal cerebrospinal fluid contents on lumbar puncture. Nephropathic cystinosis patients of all ages who meet the Dandy criteria for PTC will be considered for the study. EXCLUSION CRITERIA: Pregnant patients will be excluded from the study.
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 1 location
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, United StatesSee the location