multi-system disorder characterized by chronic kidney disease, liver disease, and frequently other manifestations including gastrointestinal disease, osteonecrosis, and hypothyroidism. Diagnosis Differential diagnosis Treatment Currently, there is no therapy that is proven to prevent the blood vessel deterioration. In 2021, Dr. Jonathan Miner of the University of Pennsylvania (Penn) in Philadelphia, and the Hospital of the University of Pennsylvania (Penn Medicine), initiated a clinical trial of crizanlizumab for RVCL. The University of Pennsylvania also sponsors RVCL patient support groups, and collaborates with the RVCL Research Center at Washington University (WashU) on clinical trials and longitudinal studies. Miner also established a large RVCL Research Center, which is conducting clinical trials, performing basic research, and developing novel personalized therapies for RVCL. This includes small molecular inhibitors (to be taken as pills) and gene therapy approaches, with the goal of fully correcting the disease-causing mutation. Developing these personalized therapies is a challenging process that will take years. History 1985–1988: CRV (Cerebral Retinal Vasculopathy) was discovered by multiple investigators including Dr. Gil Grand, Dr. John P. Atkinson, and colleagues at Washington University School of Medicine (WashU). 1988: 10 families worldwide were identified as having CRV (now known as RVCL or RVCL-S) 1991: Related disease reported, HERNS (Hereditary Endiotheliopathy with Retinopathy, Nephropathy and Stroke – UCLA 1998: Related disease reported, HRV (Hereditary Retinal Vasculopathy) – Leiden University, Netherlands 2001: Localized to Chromosome 3. 2007: The specific genetic defect in all of these families was discovered in a single gene called TREX1 on chromosome 3. 2008: Name changed to AD-RVCL Autosomal Dominant-Retinal Vasculopathy with Cerebral Leukodystrophy 2009: Testing for the disease available to persons 21 and older 2011: 20 families worldwide were identified as having CRV 2012: Obtained mouse models for further research and to test therapeutic agents 2021: At least 42 families and 200 patients worldwide are known to have RVCL (or RVCL-S). 2021: Dr. Jonathan Miner of the University of Pennsylvania (Penn) initiates the second clinical trial for RVCL, in collaboration with Dr. Andria Ford of WashU. Miner also establishes an International Registry in collaboration with colleagues. References External links Genetic diseases and disorders