Study of Abnormal Blood Clotting in Children With Stroke

NCT00001927 | Completed

• 2 other identifiers: 99004599-N-0045
• Study Type: observational
• Target: 130
• Locations: 1 country
• Sites: 1

Brief 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....

Conditions

Abnormalities; Blood Coagulation Disorder; Brain Disease; Cerebrovascular Accident; Vascular Disease

Keywords

Factor V Leiden; Prothrombin Mutation; Antiphospholipids; Cerebral Infarction; Thrombophilia; Porencephaly; Perinatal Stroke; Healthy Mothers; Healthy Children

Eligibility Criteria

• Age: Up to 45 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• CHILDREN WITH A HISTORY OF PORENCEPHALY OR STROKE:
• Children less than 18 years of age with a history of porencephaly or cerebral infarction (stroke).
• 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.
• 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 (ICD-9 codes 430-437) 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.
• FIRST-DEGREE RELATIVES OF CHILDREN WITH PORENCEPHALY OR STROKE:
• Full biological first-degree relatives of children with a history of porencephaly or stroke enrolled in this study.
• Informed consent of each participant.
• Informed assent of each participant under 18 years, when available.
• HEALTHY CHILDREN:
• Children less than 18 years of age.
• Informed consent of the parent.
• Informed assent of the child when available.

You may not qualify if:

• CHILDREN WITH A HISTORY OF PORENCEPHALY OR STROKE:
• 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.
• HEALTHY CHILDREN:
• Children greater than 18 years of age.
• Maternal history of cocaine abuse during pregnancy.
• History of cancer.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C. Deficiency of protein C in congenital thrombotic disease. J Clin Invest. 1981 Nov;68(5):1370-3. doi: 10.1172/jci110385.

  PMID: 6895379 BACKGROUND

• Allaart CF, Poort SR, Rosendaal FR, Reitsma PH, Bertina RM, Briet E. Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. Lancet. 1993 Jan 16;341(8838):134-8. doi: 10.1016/0140-6736(93)90003-y.

  PMID: 8093743 BACKGROUND

• Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. 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. Blood. 1996 Nov 15;88(10):3698-703.

  PMID: 8916933 BACKGROUND

MeSH Terms

Conditions

Congenital Abnormalities; Blood Coagulation Disorders; Brain Diseases; Stroke; Vascular Diseases; Cerebral Infarction; Thrombophilia; Porencephaly

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hematologic Diseases; Hemic and Lymphatic Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebrovascular Disorders; Cardiovascular Diseases; Brain Infarction; Brain Ischemia; Infarction; Ischemia; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Necrosis; Microcephaly; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Malformations of Cortical Development, Group III; Malformations of Cortical Development; Nervous System Malformations

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: November 4, 1999
• Study Start: February 22, 1999
• Study Completion: May 4, 2011
• Last Updated: July 2, 2017

Record last verified: 2011-05-04

Locations

US (1)