Pseudotumor CerebriNCT00071903
The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study
An observational study of Pseudotumor Cerebri and Cystinosis, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 50 years
- Conditions the study is for
- Pseudotumor Cerebri, Cystinosis
- How many people
- 18 participants
- Where
- 1 siteUnited States
- Study dates
- 30 Oct 2003to 18 Jul 2008
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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:
- signs and symptoms related to increased intracranial pressure;
- no localizing neurological signs with the exception of unilateral or bilateral sixth nerve palsy;
- neuroimaging study showing no mass lesion or hydrocephalus;
- 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.
Who cannot join
- Pregnant patients will be excluded from the study.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
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.
Read more
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 patient's 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.
Read the 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 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.
- Conditions
- Pseudotumor Cerebri, Cystinosis
- Keywords
- Thrombophilia, Idiopathic Intracranial Hypertension, Kidney Involvement, Lysosomal Storage Disorder, Cystine, Pseudotumor Cerebri, Susceptibility to Thrombosis, Nephropathic Cystinosis, PTC, Intracranial Hypertension
- Medical subject headings
- Pseudotumor Cerebri, Cystinosis, Thrombophilia, Lysosomal Storage Diseases, Intracranial Hypertension
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Nov 2003 (estimated)
- Study start30 Oct 2003
- Study completion18 Jul 2008
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Pseudotumor CerebriStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 18 participants
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00071903
- Sponsor's protocol ID
- 040010
- Other IDs
- 04-CH-0010
- Status last verified
- 18 Jul 2008
- First submitted
- 3 Nov 2003
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
Quattrone A, Gambardella A, Carbone AM, Oliveri RL, Lavano A, De Marco EV, Civitelli D, Bono F, Zappia M, Pardatscher K, DiMinno G. A hypofibrinolytic state in overweight patients with cerebral venous thrombosis and isolated intracranial hypertension. J Neurol. 1999 Nov;246(11):1086-9. doi: 10.1007/s004150050517.
PubMed 10631643Martins AN. Resistance to drainage of cerebrospinal fluid: clinical measurement and significance. J Neurol Neurosurg Psychiatry. 1973 Apr;36(2):313-8. doi: 10.1136/jnnp.36.2.313.
PubMed 4541080Calabrese VP, Selhorst JB, Harbison JW. CSF infusion test in pseudotumor cerebri. Trans Am Neurol Assoc. 1978;103:146-50. No abstract available.
PubMed 757043
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study
- ClinicalTrials.gov ID
- NCT00071903
- Acronym / sponsor ID
- 040010
- Conditions
- Pseudotumor Cerebri, Cystinosis
- Keywords
- Thrombophilia, Idiopathic Intracranial Hypertension, Kidney Involvement, Lysosomal Storage Disorder, Cystine, Pseudotumor Cerebri, Susceptibility to Thrombosis, Nephropathic Cystinosis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 18 participants
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- 30 Oct 2003
- Study completion
- 18 Jul 2008
- First posted
- 4 Nov 2003 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 patient's 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 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.
Study design
Who may qualify
- Ages
- 2 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (6 listed)
- 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:
- signs and symptoms related to increased intracranial pressure;
- no localizing neurological signs with the exception of unilateral or bilateral sixth nerve palsy;
- neuroimaging study showing no mass lesion or hydrocephalus;
- elevated opening pressure with normal cerebrospinal fluid contents on lumbar puncture.
Key exclusion criteria (1 listed)
- Pregnant patients will be excluded from the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jul 2017.
- Background: PubMed 10631643Quattrone A, Gambardella A, Carbone AM, Oliveri RL, Lavano A, De Marco EV, Civitelli D, Bono F, Zappia M, Pardatscher K, DiMinno G. A hypofibrinolytic state in overweight patients with cerebral venous thrombosis and isolated intracranial hypertension. J Neurol. 1999 Nov;246(11):1086-9. doi: 10.1007/s004150050517.
- Background: PubMed 4541080Martins AN. Resistance to drainage of cerebrospinal fluid: clinical measurement and significance. J Neurol Neurosurg Psychiatry. 1973 Apr;36(2):313-8. doi: 10.1136/jnnp.36.2.313.
- Background: PubMed 757043Calabrese VP, Selhorst JB, Harbison JW. CSF infusion test in pseudotumor cerebri. Trans Am Neurol Assoc. 1978;103:146-50. No abstract available.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pseudotumor Cerebri and Cystinosis, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Jul 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00071903, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jul 2017.