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Modifiers of Disease Severity in Cerebral Cavernous Malformations

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2016 by University of New Mexico
Sponsor:
Collaborators:
University of California, San Francisco
Barrow Neurological Institute
Angioma Alliance
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Leslie Morrison, University of New Mexico
ClinicalTrials.gov Identifier:
NCT01764529
First received: January 7, 2013
Last updated: May 2, 2016
Last verified: May 2016
  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. CCMs are often caused by an inherited gene mutation (alteration) called CCM1. 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 in medical records. The specific goals of this study are to:

  1. establish a registry/database of familial CCM cases with detailed clinical data,
  2. perform genetic testing on participant blood samples to identify other genes that may influence the development and hemorrhage of CCM lesions, and
  3. determine lesion growth during the study.

Condition
Cavernous Angioma, Familial
Cerebral Cavernous Malformations
Cerebral Cavernous Hemangioma

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Target Follow-Up Duration: 5 Years
Official Title: Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations

Resource links provided by NLM:


Further study details as provided by University of New Mexico:

Primary Outcome Measures:
  • Total CCM lesion number per patient [ 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.

  • Modified Rankin score per patient [ Time Frame: Baseline and annual assessment ] [ Designated as safety issue: No ]
    The modified Rankin score will be assessed at baseline and at approximately one year intervals while remaining in study


Biospecimen Retention:   Samples With DNA
We collect and store saliva as well as whole blood for DNA and RNA extraction. Brain cavernous malformation tissue will be collected and banked as available.

Estimated Enrollment: 800
Study Start Date: July 2009
Estimated Study Completion Date: July 2019
Estimated Primary Completion Date: July 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts
CCM Participants

Have a confirmed diagnosis of CCM1 by DNA testing, or

  • Meet 2 of the 3 following criteria:
  • Clinical diagnosis of CCM
  • Evidence of multiple cavernous malformations on MRI
  • Someone in your immediate or extended family has a clinical diagnosis of CCM1

Detailed Description:

This study is one of three projects participating in the Brain Vascular Malformation Consortium (BVMC) funded by the Office of Rare Diseases Research, which is part of the National Center for Advancing Translational Sciences (NCATS), and the National Institute of Neurological Disorders and Stroke (NINDS). The CCM project is a cross-sectional and longitudinal study of familial CCM1 patients. The study is currently in the second 5-year cycle. During the first 5 year cycle, the CCM project was focused on recruiting CCM1 cases with the common Hispanic mutation (CHM). For the second 5-year cycle, we are expanding recruitment to include not only CCM1-CHM cases, but also other CCM1 mutation carriers. We will collect clinical, genetic, imaging, treatment, and outcome data in participants, and follow the cohort over time to understand the natural history of this disease.

For new study participants, you will be asked to:

  • Give permission for study staff to access your medical records to collect clinical information and to obtain copies of MRI scans and reports
  • Fill out a questionnaire about your quality of life, family history, and medical/surgical history
  • Give a blood sample and/or saliva sample
  • Give permission to store and use your CCM resected tissue for research (if undergoing surgery)
  • Participate in annual follow-ups to update medical, surgical, and neurological information
  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
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 maformation type 1 mutations (CCM1), both symptomatic and asymptomatic.
Criteria

Inclusion Criteria:

  • Have a confirmed diagnosis of CCM1 by DNA testing, or
  • Meet 2 of the 3 following criteria:
  • -Clinical diagnosis of CCM
  • -Evidence of multiple cavernous malformations on MRI
  • -Someone in your immediate or extended family has a clinical diagnosis of CCM1

Exclusion Criteria:

  • Incarceration
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01764529

Contacts
Contact: Leslie A Morrison, MD 505-272-3194 lmorrison@salud.unm.edu
Contact: Mary R Bartlett, BS 505 272-3194 MaryBartlett@salud.unm.edu

Locations
United States, Arizona
Barrow Neurological Institute Recruiting
Phoenix, Arizona, United States, 85013
Contact: Mary Harrigan    602-406-3465    mary.harrigan@dignityhealth.org   
United States, California
University of California, San Francisco Recruiting
San Francisco, California, United States, 94110
Contact: Diana Guo    415-502-2224    diana.guo@ucsf.edu   
United States, New Mexico
University of New Mexico Health Sciences Center Recruiting
Albuquerque, New Mexico, United States, 87131
Contact: Leslie Morrison, MD    505-272-3194    lmorrison@salud.unm.edu   
Contact: Mary R Bartlett, BS    505272-3194    marybartlett@salud.unm.edu   
Principal Investigator: Leslie Morrison, MD         
Sub-Investigator: Blaine Hart, MD         
United States, North Carolina
Angioma Alliance Recruiting
Durham, North Carolina, United States, 27713
Contact: Amy L Akers, PhD    757-818-0403    Amy.Akers@angioma.org   
Sponsors and Collaborators
University of New Mexico
University of California, San Francisco
Barrow Neurological Institute
Angioma Alliance
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
Principal Investigator: Leslie Morrison, MD University of New Mexico
Principal Investigator: Blaine Hart, MD University of New Mexico
Principal Investigator: Helen Kim, PhD University of California, San Francisco
Principal Investigator: Amy Akers, PhD Angioma Alliance
Principal Investigator: Joseph Zabramski, MD Barrow Neurological Institute
  More Information

Additional Information:
Publications:

Responsible Party: Leslie Morrison, Co-Leader, 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: May 2, 2016
Health Authority: United States: Institutional Review Board
Individual Participant Data  
Plan to Share IPD: Yes
Plan Description: Available data will be released to the Rare Diseases Clinical Research Network repository and will become available to the scientific community one year after publication of planned analyses, or after a period of 5 years from the date when the data were collected, whichever comes first

Additional relevant MeSH terms:
Congenital Abnormalities
Hemangioma
Hemangioma, Cavernous, Central Nervous System
Hemangioma, Cavernous
Neoplasms, Vascular Tissue
Neoplasms by Histologic Type
Neoplasms
Central Nervous System Vascular Malformations
Nervous System Malformations
Nervous System Diseases
Vascular Malformations
Cardiovascular Abnormalities
Cardiovascular Diseases
Hemostatic Disorders
Vascular Diseases
Hemorrhagic Disorders
Hematologic Diseases

ClinicalTrials.gov processed this record on December 07, 2016