Protocol Number: 99-N-0045

Title:

Study of Abnormal Acquired and Genetic Coagulation Factors in Children with Porencephaly and Stroke

Number:

99-N-0045

Summary:

Effective treatment and prevention strategies for childhood stroke and porencephaly can only be developed once the causes are understood. There is increasing evidence that inherited and acquired coagulation abnormalities alone or in combination with environmental factors, predispose to arterial and venous thrombosis. Inherited abnormalities of factor V Leiden, prothrombin, protein C, protein S, and antithrombin III may account for many of these thromboses. At present there is little information on the existing distribution of these coagulation anomalies in children with thrombosis. Recent reports also suggest that these clotting abnormalities may be responsible for some instances of intracranial hemorrhage, porencephaly, cerebral palsy and fetal death.

This study will measure the frequency of several coagulation factor abnormalities (factor V Leiden, prothrombin 20210A, protein C, protein S, antithrombin III, and antiphospholipid antibodies) in children with a history of porencephaly and stroke, and will compare these to the prevalence of these mutations in population controls and family members. We will also describe the exogenous conditions which in concert with these coagulation factors, may have led to the development of thrombosis in these children.

Sponsoring Institute:

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

CHILDREN WITH A HISTORY OF PORENCEPHALY OR STROKE:

1. Children less than 18 years of age with a history of porencephaly or cerebral infarction (stroke).

2. Children less than 18 years of age with a history of spastic hemiplegic or quadriplegic cerebral palsy (ICD-9 codes 343.1, 343.2, 343.3, 343.4, 343.8 and 343.9) with radiographic evidence of porencephaly or stroke.

3. A diagnosis of porencephaly as defined by a fluid-filled cavity within the cerebral hemispheres which may or may not communicate with CSF spaces and confirmed by at least one imaging method including computed tomography (CT), magnetic resonance (MR) and or Doppler ultrasonography.

4. A diagnosis of cerebral infarction (stroke) as defined by a new focal neurologic deficit lasting greater than or equal to 24 hours and presumably due to a vascular process (ICD-9 codes 430-437) and confirmed by brain imaging, either computed tomography (CT), magnetic resonance (MR) or Doppler ultrasonography.

5. Informed consent of the parent.

6. Informed assent of the child, when available.

FIRST-DEGREE RELATIVES OF CHILDREN WITH PORENCEPHALY OR STROKE:

1. Full biological first-degree relatives of children with a history of porencephaly or stroke enrolled in this study.

2. Informed consent of each participant.

3. Informed assent of each participant under 18 years, when available.

HEALTHY CHILDREN:

1. Children less than 18 years of age.

2. Informed consent of the parent.

3. Informed assent of the child when available.

HEALTHY MOTHERS:

1. Women between 18 and 45 years of age.

2. History of full-term pregnancy.

3. Informed consent of the participant.

EXCLUSION CRITERIA:

CHILDREN WITH A HISTORY OF PORENCEPHALY OR STROKE:

1. Children greater than 18 years of age.

2. Maternal history of cocaine abuse during pregnancy.

3. History of cancer.

4. History of other chromosomal or metabolic disorder.

5. History of trauma and or child abuse.

6. Isolated subdural hematomas.

7. History of aneurysm or vascular malformations.

8. Congenital heart disease.

9. Sickle cell disease.

10. History of CNS infection.

HEALTHY CHILDREN:

1. Children greater than 18 years of age.

2. Maternal history of cocaine abuse during pregnancy.

3. History of cancer.

4. History of other chromosomal or metabolic disorder.

5. History of trauma and or child abuse.

6. Isolated subdural hematomas.

7. History of aneurysm or vascular malformations.

8. Congenital heart disease.

9. Sickle cell disease.

10. History of CNS infection.

11. History of stroke or porencephaly.

HEALTHY MOTHERS:

1. Volunteer has biological children without a history of cancer, head trauma, aneurysm, chromosomal or metabolic disorder, congenital heart disease, sickle cell disease, meningitis or encephalitis, or stroke.

2. Cocaine use during pregnancy.

Special Instructions:

Currently Not Provided

Keywords:

Factor V Leiden

Prothrombin Mutation

Antiphospholipids

Cerebral Infarction

Thrombophilia

Porencephaly

Perinatal Stroke

Recruitment Keyword(s):

Healthy Mothers

Healthy Children

Condition(s):

Abnormalities

Blood Coagulation Disorder

Brain Disease

Cerebrovascular Accident

Vascular Disease

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Neurological Disorders and Stroke

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Deficiency of protein C in congenital thrombotic disease

Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect

A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis

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