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Trial record 5 of 11 for:    Cavernous Malformation

Modifiers of Disease Severity in Cerebral Cavernous Malformations

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ClinicalTrials.gov Identifier: NCT01764529
Recruitment Status : Recruiting
First Posted : January 9, 2013
Last Update Posted : August 8, 2019
Sponsor:
Collaborators:
Barrow Neurological Institute
Angioma Alliance
National Institute of Neurological Disorders and Stroke (NINDS)
University of New Mexico
National Center for Advancing Translational Science (NCATS)
Information provided by (Responsible Party):
Helen Kim, MPH, PhD, University of California, San Francisco

Tracking Information
First Submitted Date January 7, 2013
First Posted Date January 9, 2013
Last Update Posted Date August 8, 2019
Study Start Date July 2009
Estimated Primary Completion Date July 2024   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: August 5, 2019)
  • Total CCM lesion number per patient [ Time Frame: Baseline ]
    The number of lesions (or cavernous angiomas) located in the brain will be counted by a neuroradiologist and by an automated algorithm developed as part of this project.
  • Rate of symptomatic hemorrhage [ Time Frame: Baseline and annual asessment ]
    Symptomatic hemorrhage is defined as diagnostic evidence of new lesional bleeding or hemorrhagic growth, in association with directly attributable symptoms. Rate of symptomatic hemorrhage and the factors that influence hemorhrage rates will be assessed.
Original Primary Outcome Measures
 (submitted: January 7, 2013)
Lesion number [ Time Frame: Baseline ]
The number of lesions (or cavernous angiomas) located in the brain will be counted by a neuroradiologist.
Change History Complete list of historical versions of study NCT01764529 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: August 5, 2019)
  • 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 follow up MRIs.
  • Modified Rankin score [ 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 Measures
 (submitted: January 7, 2013)
  • 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.
Current Other Pre-specified Outcome Measures
 (submitted: August 5, 2019)
Patient-Reported Outcomes Measurement Information System (PROMIS) [ Time Frame: Baseline and annual assessment ]
Standardized patient reported outcome measurement tools to assess pain, fatigue, physical function, emotional distress, and social participation.
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Modifiers of Disease Severity in Cerebral Cavernous Malformations
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) in one of three CCM genes (CCM1, CCM2, or CCM3). 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 continue to enroll and follow participants with familial CCM to identify factors that influence CCM disease severity and progression, focusing on barriers to clinical trial preparedness. Our long-term goal is to identify measurable outcomes and robust biomarkers that will help select high-risk patients and help monitor drug response in future clinical trials. The specific goals of this study are to:

  1. identify factors that influence lesion progression to symptomatic hemorrhage and other outcomes, including quality of life;
  2. investigate the role of the gut microbiome and lesion burden in CCM disease; and
  3. establish blood biomarkers predictive of CCM disease severity and progression for clinical trials.
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 CCM patients. The study is currently in the third 5-year cycle. During the first 5 year cycle (BVMC1), the CCM project was focused on recruiting CCM1 cases with the common Hispanic mutation (CHM). In the second 5-year cycle (BVMC2), we expanded recruitment to include not only CCM1-CHM cases, but also other CCM familial patients and mutation carriers. In the third 5-year cycle (BVMC3), we will continue to recruit familial CCM cases and expand to additional recruitment sites. We collect clinical, genetic, imaging, treatment, and outcome data in participants, and follow enrolled participants 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 and/or saliva sample, and stool 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
Study Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration 15 Years
Biospecimen Retention:   Samples With DNA
Description:
We collect and store saliva as well as whole blood for DNA, RNA, and plasma or serum samples. Brain cavernous malformation tissue will be collected and banked as available.
Sampling Method Non-Probability Sample
Study Population The study population includes individuals who carry the diagnosis of familial cerebral cavernous malformation (CCM), both symptomatic and asymptomatic.
Condition
  • Cavernous Angioma, Familial
  • Cerebral Cavernous Malformations
  • Cerebral Cavernous Hemangioma
Intervention Not Provided
Study Groups/Cohorts CCM Participants

Have a confirmed diagnosis of familial CCM 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 CCM
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: May 2, 2016)
800
Original Estimated Enrollment
 (submitted: January 7, 2013)
500
Estimated Study Completion Date July 2024
Estimated Primary Completion Date July 2024   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Have a confirmed diagnosis of familial CCM by DNA testing, or
  • Meet 2 of the 3 following criteria:

    • Clinical diagnosis of familial CCM
    • Evidence of multiple cavernous malformations on MRI
    • Someone in your immediate or extended family has a clinical diagnosis of CCM

Exclusion Criteria:

  • Incarceration
  • Homeless
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Helen Kim, PhD 415-206-8906 helen.kim2@ucsf.edu
Contact: Atif Zafar, MD 505 272-3194 azafar@salud.unm.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01764529
Other Study ID Numbers BVMC 6201
U54NS065705 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
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
Responsible Party Helen Kim, MPH, PhD, University of California, San Francisco
Study Sponsor University of California, San Francisco
Collaborators
  • Barrow Neurological Institute
  • Angioma Alliance
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • University of New Mexico
  • National Center for Advancing Translational Science (NCATS)
Investigators
Principal Investigator: Atif Zafar, MD University of New Mexico
Principal Investigator: Marc Mabray, 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
Principal Investigator: Michael T. Lawton, MD Barrow Neurological Institute
PRS Account University of California, San Francisco
Verification Date August 2019