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:

A stroke is a sudden neurological condition caused by an abnormality in blood flow to the brain. Studies on strokes in children estimate that 2.5 out of 100,000 children will suffer a stroke. Pediatric strokes occur more frequently in children less than 2 years old. The causes of strokes in children are often undetermined.

Effective treatment and prevention plans for childhood strokes can only be developed once the causes are understood. There is increasing evidence that blood-clotting abnormalities alone or in combination with environmental factors may be responsible for blood clots in arteries and veins.

There are many compounds that play a role in the normal pathway of blood clotting in the body. Abnormalities in any one of these compounds can account for the development of stroke-causing blood clots. Presently, there is very little information on these abnormalities in children.

This study is designed to measure the frequency of several specific blood-clotting abnormalities in children with a history of stroke and porencephaly (pockets/cavities within the brain). Data collected from this study will be compared to statistics of these conditions in the rest of the population.

Sponsoring Institute:

National Institute of Neurological Disorders and Stroke (NINDS)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

The study population will consist of patients, with a diagnosis or porencephaly and or stroke, recruited from Children's Memorial Hospital and the outside community.

PATIENT POPULATION: (Cases)

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

Children less than 18 years of age with a history of spastic hemiplegic or quadriplegic cerebral palsy with radiographic evidence of stroke or porencephaly.

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.

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 and confirmed by brain imaging, either computed tomography (CT), magnetic resonance (MR) or Doppler ultrasonography.

Informed consent of the parent.

Informed assent of the child when available.

NORMAL VOLUNTEERS (CHILDREN):

Informed consent of the parent.

Informed assent of the child when available.

PARENTS AND SIBLINGS OF CHILDRFEN WITH STROKE:

Informed consent of each participant.

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

MOTHERS OF CHILDREN WITH STROKE:

Informed consent of the mother.

NORMAL VOLUNTEERS (MOTHERS):

Informed consent of the volunteer.

Volunteers between 18 and 45 years of age.

History of full-term pregnancy.

EXCLUSION CRITERIA:

PATIENT POPULATION: (Cases)

Children greater than 18 years of age.

Maternal history of cocaine abuse during pregnancy.

History of cancer.

History of other chromosomal or metabolic disorder.

History of trauma and or child abuse.

Isolated subdural hematomas.

History of aneurysm or vascular malformations.

Congenital heart disease.

Sickle cell disease.

History of CNS infection.

NORMAL VOLUNTEERS (CHILDREN):

Children greater than 18 years of age.

Maternal history of cocaine abuse during pregnancy.

History of cancer.

History of other chromosomal or metabolic disorder.

History of trauma and or child abuse.

Isolated subdural hematomas.

History of aneurysm or vascular malformations.

Congenital heart disease.

Sickle cell disease.

History of CNS infection.

History of stroke or porencephaly.

NORMAL VOLUNTEERS (MOTHERS):

Volunteer has biological children with a history of cancer, head trauma, aneurysm, chromosomal or metabolic disorder, congenital heart disease, sickle cell disease, meningitis or encephalitis, or stroke.

Cocaine use during pregnancy.

Special Instructions: Currently Not Provided

Keywords:

Factor V Leiden

Prothrombin Mutation

Antiphospholipids

Cerebral Infarction

Thrombophilia

Porencephaly

Perinatal Stroke

Recruitment Keywords:

Healthy Mothers

Healthy Children

Conditions:

Abnormalities

Blood Coagulation Disorder

Brain Disease

Cerebrovascular Accident

Vascular Disease

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

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

Citations:

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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