{"id":3583,"date":"2026-08-04T13:13:37","date_gmt":"2026-08-04T13:13:37","guid":{"rendered":"https:\/\/corporate-movers-usa.com\/?p=3583"},"modified":"2026-08-04T13:13:37","modified_gmt":"2026-08-04T13:13:37","slug":"penn-receives-10-million-to-study-new-treatment-for-relentless-rare-genetic-disease-with-no-cure","status":"publish","type":"post","link":"https:\/\/corporate-movers-usa.com\/?p=3583","title":{"rendered":"Penn receives $10 million to study new treatment for \u2018relentless,\u2019 rare genetic disease with no cure"},"content":{"rendered":"<div>\n<div>\n<div><audio><\/audio><\/div>\n<\/div>\n<p>Lindsay Ward grows more nervous with each passing year, knowing her ultra-rare genetic disease could emerge at any time.<\/p>\n<p>Read more <a href=\"https:\/\/corporate-movers-usa.com\/?p=3581\">How rogue officers turned a nationwide camera network into a tool for stalking<\/a><\/p>\n<div><\/div>\n<p>The 37-year-old schoolteacher from West Deptford, New Jersey, inherited the genetic mutation that causes RVCL \u2014 retinal vasculopathy with cerebral leukoencephalopathy \u2014 which damages small blood vessels throughout the body and typically shows up between the ages of 35 and 50. It causes premature death as brain, retinal, liver, and kidney damage accumulate.<\/p>\n<div><\/div>\n<div><\/div>\n<p>Many patients die within five to 10 years of symptom onset.<\/p>\n<div><\/div>\n<p>\u201cIt\u2019s relentless,\u201d said Jonathan Miner, who directs the RVCL Research Center at Penn. \u201cThey go from being completely healthy to becoming blind, unable to walk or talk, with kidney failure and other problems.\u201d<\/p>\n<div><\/div>\n<p>The disease currently has no cure. However, Miner recently received a $10 million gift from the Illinois-based nonprofit Clayco Foundation to develop a potential treatment. <\/p>\n<div><\/div>\n<p>The idea behind his small-molecule drug is to eliminate the faulty protein driving the disease before it can cause damage. The drug will still need to be tested in animals to evaluate safety before possibly moving into clinical trials.<\/p>\n<div><\/div>\n<div><\/div>\n<p>Most exploratory scientific efforts do not advance to the point where they are found safe and effective in humans. Even if the results are promising, it could take years before a potential new drug becomes widely available.<\/p>\n<div><\/div>\n<p>Ward has already seen the disease ripple through her family. <\/p>\n<div><\/div>\n<div><\/div>\n<p>Her uncle died from RVCL last year. Her mother, Barbara Small, was diagnosed in 2018 after almost four years of symptoms.<\/p>\n<div><\/div>\n<div><\/div>\n<p>She hopes for a treatment that can help her avoid their fates.<\/p>\n<div><\/div>\n<p>\u201cI do as many active things as humanly possible because I\u2019m so worried about becoming frail,\u201d Ward said. \u201cI see the weakness that my mom has and I don\u2019t want that.\u201d<\/p>\n<div><\/div>\n<div><\/div>\n<div><\/div>\n<div>\n<h3>What is RVCL?<\/h3>\n<\/div>\n<div><\/div>\n<p>Fewer than 50 families worldwide are known to have RVCL.<\/p>\n<div><\/div>\n<p>The rare disease is often misdiagnosed as various autoimmune diseases, including multiple sclerosis and lupus. Only through a genetic test can patients verify an RVCL diagnosis \u2014 characterized by a mutation in a gene called TREX1. <\/p>\n<div><\/div>\n<div><\/div>\n<p>The gene encodes a protein of the same name, TREX1, which, when mutated, becomes misplaced in a cell and damages DNA.<\/p>\n<div><\/div>\n<p>Over time, this causes small blood vessels to break down and disappear. The loss of blood flow leads to organ damage, including blindness, glaucoma, chronic kidney disease, strokes, and neurological effects.<\/p>\n<div><\/div>\n<p>When asked how he felt about the donation, Miner reflected on seeing many patients die from the disease and kids lose their parents young.<\/p>\n<div><\/div>\n<p>\u201cI believe that everybody deserves a chance to live,\u201d he said.<\/p>\n<div><\/div>\n<div>\n<h3>A potential drug<\/h3>\n<\/div>\n<div><\/div>\n<p>Miner\u2019s drug candidate belongs to a new class of medicines called a degrader.<\/p>\n<div><\/div>\n<p>The drug eliminates the mutated TREX1 protein by pairing it with another protein called \u201cE3.\u201d E3\u2019s role is to label other proteins for destruction, much like putting a shipping label on a package to direct it to the right address.<\/p>\n<div><\/div>\n<div><\/div>\n<p>By labeling TREX1, \u201cit basically tells the cell\u2019s own machinery to eliminate this faulty protein,\u201d Miner said.<\/p>\n<div><\/div>\n<p>If the drug proves effective, patients would ideally take it before they get sick, to prevent injury to blood vessels and organs.<\/p>\n<p>Read more <a href=\"https:\/\/corporate-movers-usa.com\/?p=3579\">Pa. lawmakers have proposed dozens of ways to fix the state\u2019s low housing stock. They\u2019re making a database instead.<\/a><\/p>\n<div><\/div>\n<p>When tested in mice with the disease, the drug protected cells from DNA damage and prevented premature death.<\/p>\n<div><\/div>\n<p>\u201cWe haven\u2019t seen side effects in the mice, but we need to do much more extensive studies to prove that there are no side effects in animals before we can move forward,\u201d Miner said.<\/p>\n<div><\/div>\n<p>The first and only FDA-approved degrader was developed for advanced breast cancer and approved in May. Miner\u2019s TREX1 degrader is one of many variations on the novel technology that have emerged.<\/p>\n<div><\/div>\n<p>The $10 million donation will fund preclinical safety studies. The goal is to complete this testing over the next year, and, if it proves to be safe, move on to humans.<\/p>\n<div><\/div>\n<p>If the drug advances to a clinical trial, it would still take years to test the safety and efficacy. Most treatments evaluated in clinical trials do not become standard practice.<\/p>\n<div><\/div>\n<p>\u201cNothing has moved the needle yet in terms of delaying death and disability,\u201d Miner said. \u201cThis, we think, gives us a real chance.\u201d<\/p>\n<div><\/div>\n<div>\n<h3>Waiting<\/h3>\n<\/div>\n<div><\/div>\n<div><\/div>\n<div><\/div>\n<p>Ward\u2019s 67-year-old mother, Barbara Small, who lives in Cape May Courthouse,started to show symptoms in her 50s.<\/p>\n<div><\/div>\n<p>What began as blurry vision and a damaged optic nerve progressed to a stroke. Roughly four years later, in 2018, she was diagnosed with RVCL.<\/p>\n<div><\/div>\n<p>Today, she is \u201cpretty much blind\u201d in one eye, Ward said, and has had a few strokes. She will frequently have aphasia, a communication disorder that can cause trouble speaking, and memory issues. Small is physically weak overall, and cannot walk very far without having to sit down.<\/p>\n<div><\/div>\n<p>\u201cIt is very challenging to see what your future will be,\u201d said Ward, who helps take care of her mother.<\/p>\n<div><\/div>\n<p>Ward gets an MRI and diagnostic eye testing every six months to check for symptoms.<\/p>\n<div><\/div>\n<p>She and her husband, Matt, have three kids, with the youngest being a year and a half old. They don\u2019t know whether their children inherited the mutation (testing is not recommended in children due to the late onset of the disease).<\/p>\n<div><\/div>\n<div><\/div>\n<div><\/div>\n<p>However, if a preventive treatment were to come out, she would test them sooner.<\/p>\n<div><\/div>\n<p>Ward recently attended the International RVCL Symposium at Penn, where Miner presented on his research and potential clinical trial.<\/p>\n<div><\/div>\n<p>For patients like her mother, the treatment would likely just stabilize her condition and not reverse existing damage, she said. However, Ward is hopeful that the drug, if proven to be safe and effective, could help prevent her and her kids (should they test positive for the mutation) from becoming symptomatic.<\/p>\n<p>Read more <a href=\"https:\/\/corporate-movers-usa.com\/?p=3577\">Does the American masculinity crisis have roots in Valley Forge?<\/a><\/p>\n<div><\/div>\n<p>\u201cI would like to live a long, healthy life,\u201d she said. \u201cThat would be my goal.\u201d<\/p>\n<div><\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>The Illinois-based nonprofit Clayco Foundation donated the funding for research on retinal vasculopathy with cerebral leukoencephalopathy, or RVCL.<\/p>\n","protected":false},"author":1,"featured_media":3582,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[2],"tags":[],"class_list":["post-3583","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.7 - 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