Biomarker Development

Biomarkers are ways to diagnose or to measure or predict a change in the state of cavernous malformation (CCM, cavernous angioma) illness.

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Which biomarkers are being developed?

Currently, biomarkers are being developed using:

Blood

Blood biomarker tests are being developed to:

  • Determine whether a cavernous malformation lesion has bled in the last 12 months if MRI is inconclusive.
  • Predict whether an individual may have a hemorrhage in the next 12 months, allowing for possible intervention.
  • Determine whether a treatment is working.

MRI Imaging

Biomarkers in MRI imaging are being used to:

  • Measure the exact amount of blood in a lesion. This is important because it will allow us to know whether a treatment is working.
  • Identify lesions that are more likely to hemorrhage in the future.

Stool

Stool samples may be used as part of the diagnostic and monitoring process for CCM in the future. The bacteria in the guts of people with cavernous malformations appear to differ from people in the general population. Analyzing a stool sample may become a way to diagnose CCM or, possibly, to determine whether a treatment is working.

Urine

Urine biomarkers are being developed to diagnose the presence of brain vascular malformations.

 

How can I get involved?

Multiple biomarker development and validation research projects are underway. You can participate to help move this research forward.

Blood

Trial Readiness/Biomarker Project – Diagnostic and predictive blood and MRI biomarkers are being validated at the University of Chicago, Mayo Clinic Rochester, and UC San Francisco. Internationally, they are being validated in Rio de Janeiro, Brazil. For more information, view this informative WEBINAR delivered by Dr. Issam Awad.

Texas Tech University Health Sciences Center El Paso – Biomarkers for early prediction of hemorrhage are being developed at TTUHSC El Paso. The researchers are specifically recruiting Hispanic patients for this study.

MRI Imaging

Trial Readiness/Biomarker Project – Diagnostic and predictive MRI biomarkers are being validated at the University of Chicago, Mayo Clinic Rochester, University of New Mexico, and UC San Francisco. For more information, view this informative WEBINAR delivered by Dr. Issam Awad.

Stool

The Brain Vascular Malformations Consortium project is examining the potential to develop biomarkers based on microbiome changes. Recruitment sites include UC San Francisco, University of New Mexico, Barrow Neurological Institute, Cincinnati Children’s Hospital, Boston Children’s Hospital, and the University of Chicago.

Urine

Diagnostic urine biomarkers are under development at Boston Children’s Hospital.  This study is not currently recruiting.

 

References

Fehnel KP, Penn DL, Duggins-Warf M, Gruber M, Pineda S, Sesen J, Moses-Gardner A, Shah N, Driscoll J, Zurakowski D, Orbach DB, Smith ER. Dysregulation of the EphrinB2-EphB4 ratio in pediatric cerebral arteriovenous malformations is associated with endothelial cell dysfunction in vitro and functions as a novel noninvasive biomarker in patients. Exp Mol Med. 2020 Apr;52(4):658-671. doi: 10.1038/s12276-020-0414-0. Epub 2020 Apr 14.PMID: 32286515

Girard R, Li Y, Stadnik A, Shenkar R, Hobson N, Romanos S, Srinath A, Moore T, Lightle R, Shkoukani A, Akers A, Carroll T, Christoforidis GA, Koenig JI, Lee C, Piedad K, Greenberg SM, Kim H, Flemming KD, Ji Y, Awad IA. A Roadmap for Developing Plasma Diagnostic and Prognostic Biomarkers of Cerebral Cavernous Angioma With Symptomatic Hemorrhage (CASH). Neurosurgery. 2021 Feb 16;88(3):686-697. doi: 10.1093/neuros/nyaa478.

Hobson N, Polster SP, Cao Y, Flemming K, Shu Y, Huston J, Gerrard CY, Selwyn R, Mabray M, Zafar A, Girard R, Carrión-Penagos J, Chen YF, Parrish T, Zhou XJ, Koenig JI, Shenkar R, Stadnik A, Koskimäki J, Dimov A, Turley D, Carroll T, Awad IA. Phantom validation of quantitative susceptibility and dynamic contrast-enhanced permeability MR sequences across instruments and sites. J Magn Reson Imaging. 2020 Apr;51(4):1192-1199. doi: 10.1002/jmri.26927. Epub 2019 Sep 12.PMID: 31515878

Polster SP, Sharma A, Tanes C, Tang AT, Mericko P, Cao Y, Carrión-Penagos J, Girard R, Koskimäki J, Zhang D, Stadnik A, Romanos SG, Lyne SB, Shenkar R, Yan K, Lee C, Akers A, Morrison L, Robinson M, Zafar A, Bittinger K, Kim H, Gilbert JA, Kahn ML, Shen L, Awad IA. Permissive microbiome characterizes human subjects with a neurovascular disease cavernous angioma. Nat Commun. 2020 May 27;11(1):2659. doi: 10.1038/s41467-020-16436-w.PMID: 32461638

 

Updated 5.22.2021  Reviewed 4.17.22

 

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