Preclinical Development of Gene Replacement Therapy Using Novel AV Vectors in Familial Cerebral Cavernous Malformations

Abstract

Peer Reviewed Medical Research Program (PRMRP) Strategic Goal: Treatment. Develop less-invasive treatment technologies for associated cardiovascular conditions. PRMRP Topic Area: Cardiovascular Health. Vascular Malformations. Cerebral Cavernous Malformations (CCMs) are a type of vascular malformation; abnormal clusters of blood vessels that develop in the brain and spinal cord of affected patients. The CCMs are prone to bleed causing headaches, stroke and even death. In the inherited form of the disease the patients develop dozens or more of these CCMs in the brain. There is no effective treatment except for highly invasive brain surgery, but for the patients with inherited disease it is impossible to remove more than one or two malformations, and a non-surgical therapy is critically needed. We will address CCM therapy at the root cause by adding back a copy of the normal gene – so-called gene addition therapy. Our proposal involves a test of this approach to therapy in animals, using new strategies and tools developed by the three investigative teams. These include a new mouse model of CCM disease that highly resembles the human disease, a novel gene delivery system using engineered viruses, and innovative imaging and biochemical techniques to determine the effectiveness of the treatment. Upon study completion, we will have identified a gene delivery strategy and blood tests for its monitoring, to be used for a subsequent clinical trial in CCM patients.

Document Details

Document Type
DoD Grant Award
Publication Date
Jan 04, 2024
Source ID
HT94252310644

Entities

People

  • Douglas A Marchuk

Organizations

  • Duke University
  • United States Army

Tags

Fields of Study

  • Medicine

Readers

  • Gulf War Illness and Chronic Multisymptom Illness in Veterans.
  • Molecular and Cellular Biology
  • Oncology