Modifiers of Disease Severity in Cerebral Cavernous Malformations
This study is currently recruiting participants.
Verified January 2013 by University of New Mexico
Sponsor:
University of New Mexico
Collaborators:
University of California, San Francisco
Information provided by (Responsible Party):
Leslie Morrison, University of New Mexico
ClinicalTrials.gov Identifier:
NCT01764529
First received: January 7, 2013
Last updated: NA
Last verified: January 2013
History: No changes posted
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Purpose
Cerebral cavernous malformations (CCMs) are clusters of abnormal blood vessels in the brain and spine. CCMs can bleed and cause strokes, seizures, and headaches. In the Hispanic population of the southwest, CCMs are often caused by an inherited gene mutation (alteration), termed the common Hispanic mutation (CCM1-CHM). There is a wide range of disease severity even among family members with this disease, though the natural history has not been clearly described for this particular population.
This study will examine factors that influence disease severity through the collection of blood samples, detailed medical histories, physical and neurological exam, and magnetic resonance imaging (MRI) of the brain. The specific goals of this study are to:
- establish a registry/database of familial CCM cases with detailed clinical data,
- perform genetic testing on participant blood samples to identify other genes that may influence the development and hemorrhage of CCM lesions, and
- determine lesion growth during the study.
| Condition | Intervention |
|---|---|
|
Cavernous Angioma, Familial Cerebral Cavernous Malformations Cerebral Cavernous Hemangioma |
Other: Natural history data collection |
| Study Type: | Observational [Patient Registry] |
| Study Design: | Observational Model: Cohort Time Perspective: Cross-Sectional |
| Target Follow-Up Duration: | 4 Years |
| Official Title: | Modifiers of Disease Severity in Cerebral Cavernous Malformations |
Resource links provided by NLM:
Genetics Home Reference related topics:
capillary malformation-arteriovenous malformation syndrome
cerebral cavernous malformation
Parkes Weber syndrome
MedlinePlus related topics:
Birthmarks
U.S. FDA Resources
Further study details as provided by University of New Mexico:
Primary Outcome Measures:
- Lesion number [ Time Frame: Baseline ] [ Designated as safety issue: No ]The number of lesions (or cavernous angiomas) located in the brain will be counted by a neuroradiologist.
Secondary Outcome Measures:
- Change in lesion number [ Time Frame: Baseline, Follow up MRI ] [ Designated as safety issue: No ]The number of lesions (or cavernous angiomas) counted on the baseline MRI will be compared to the number of lesions observed in the follow up study MRI. This will only be performed for the first 100 participants in the study.
- Neurological status [ Time Frame: Baseline ] [ Designated as safety issue: No ]The neurological status of participants will be evaluated by a neurologist.
Biospecimen Retention: Samples With DNA
We collect and store saliva as well as whole blood for DNA and RNA extraction.
| Estimated Enrollment: | 500 |
| Study Start Date: | April 2010 |
| Estimated Study Completion Date: | June 2014 |
| Estimated Primary Completion Date: | June 2014 (Final data collection date for primary outcome measure) |
| Groups/Cohorts | Assigned Interventions |
|---|---|
|
CCM1-CHM Participants
All individuals in the study have CCM1-CHM and will participate in the natural history data collection.
|
Other: Natural history data collection
Collection of detailed medical history, brain MRI, and neurological and physical examination.
|
Eligibility| Ages Eligible for Study: | 6 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Study Population
The study population includes individuals who carry the cerebral cavernous malformation-common Hispanic mutation (CCM1-CHM). We are enrolling individuals who are symptomatic as well as those individuals with no symptoms. Although this disease is common in New Mexico, we are interested in enrolling individuals worldwide if they have CCM1-CHM.
Criteria
Inclusion Criteria:
- Diagnosis of cerebral cavernous malformations-common Hispanic mutation.
Exclusion Criteria:
- Incarceration
- Unable to pass MRI safety screening (pregnant females, claustrophobic, or those with certain metallic items implanted in their bodies)
- Individuals who are unable to tolerate MRI without sedation, which refers mailed to children < 6 years old.
Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01764529
Contacts
| Contact: Beth Baca, MSW | 505-272-3194 | babaca@salud.unm.edu |
Locations
| United States, New Mexico | |
| University of New Mexico Health Sciences Center | Recruiting |
| Albuquerque, New Mexico, United States, 87131 | |
| Contact: Beth Baca, MSW 505-272-3194 babaca@salud.unm.edu | |
| Principal Investigator: Leslie Morrison, MD | |
| Sub-Investigator: Blaine Hart, MD | |
Sponsors and Collaborators
University of New Mexico
University of California, San Francisco
Investigators
| Principal Investigator: | Leslie Morrison, MD | University of New Mexico |
| Principal Investigator: | Blaine Hart, MD | University of New Mexico |
More Information
Additional Information:
No publications provided
| Responsible Party: | Leslie Morrison, Vice Chancellor for Academic Affairs, University of New Mexico |
| ClinicalTrials.gov Identifier: | NCT01764529 History of Changes |
| Other Study ID Numbers: | BVMC 6201, U54NS065705 |
| Study First Received: | January 7, 2013 |
| Last Updated: | January 7, 2013 |
| Health Authority: | United States: Institutional Review Board |
Keywords provided by University of New Mexico:
|
Hispanic |
Additional relevant MeSH terms:
|
Congenital Abnormalities Hemangioma Hemangioma, Cavernous Hemangioma, Cavernous, Central Nervous System Neoplasms, Vascular Tissue Neoplasms by Histologic Type Neoplasms Hemostatic Disorders Vascular Diseases |
Cardiovascular Diseases Hemorrhagic Disorders Hematologic Diseases Central Nervous System Vascular Malformations Nervous System Malformations Nervous System Diseases Vascular Malformations Cardiovascular Abnormalities |
ClinicalTrials.gov processed this record on May 16, 2013