Clinical Trial: Modifiers of Disease Severity in Cerebral Cavernous Malformations

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

Official Title: Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations

Brief Summary:

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.

Detailed Summary:

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

Sponsor: University of New Mexico

Current Primary Outcome: Total CCM lesion number per patient [ Time Frame: Baseline ]

Original Primary Outcome: Lesion number [ Time Frame: Baseline ]

Current Secondary Outcome:

• Change in lesion number [ Time Frame: Baseline, Follow up MRI ]
  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 ]
  The modified Rankin score will be assessed at baseline and at approximately one year intervals while remaining in study

Original Secondary Outcome:

• Change in lesion number [ Time Frame: Baseline, Follow up MRI ]
  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 ]
  The neurological status of participants will be evaluated by a neurologist.

Information By: University of New Mexico

Dates:
Date Received: January 7, 2013
Date Started: July 2009
Date Completion: July 2019
Last Updated: May 2, 2016
Last Verified: May 2016