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href="/cdn-cgi/l/email-protection#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" title="Send email"> <img decoding="async" src="data:image/svg+xml,%3Csvg%20xmlns='http://www.w3.org/2000/svg'%20viewBox='0%200%200%200'%3E%3C/svg%3E" data-lazy-src="https://bhbusiness.com/wp-content/themes/agingmedia/images/icon_email.svg"><noscript><img decoding="async" src="https://bhbusiness.com/wp-content/themes/agingmedia/images/icon_email.svg"></noscript> </a> </li>     </ul> </div>  <article> <div class="sponsored-article-content"> <p>There are currently no treatments for a genetic anomaly that causes a type of autism spectrum disorder and Phelan-McDermid syndrome (PMS), an autism-related condition. </p> <p>Biotechnology company Jaguar Gene Therapy is launching the first human gene therapy trial to address the root cause of the condition. </p> <p>The therapy, called JAG201, targets the SHANK3 gene. Mutations in this gene have been <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424902/#:~:text=SHANK3%20mutations%2C%20including%20de%20novo,on%20neurodevelopment%20remain%20poorly%20understood." target="_blank" rel="noreferrer noopener">associated with autism</a>. </p><div class="inner-content-ad"><div id="600x250_d_middle" class="adyb show-ad-label" data-ad-mapping="middle" data-ad-slot="bhbusiness/bhb_autismweb" data-ad-targetingpos="d_middle" style="width: 100%; position: relative;" data-ad-device="desktop"></div><div class="ad-notice">Advertisement</div></div> <p>Jaguar is a clinical-stage biotechnology company that partners with its subsidiary Advanced Medicine Partners to manufacture its therapeutics. Deerfield Management Company, ARCH Venture Partners and Eli Lilly and Company have invested in the company. </p> <p>A variation on the SHANK3 gene is only one of ASD’s multiple possible causes. </p> <p>The disorder can be caused by other genetic mutations and is associated with other genetic disorders, including Rett syndrome or fragile X syndrome, according to the<a href="https://www.mayoclinic.org/diseases-conditions/autism-spectrum-disorder/symptoms-causes/syc-20352928" target="_blank" rel="noreferrer noopener"> Mayo Clinic</a>. Environmental factors may also have a causal role. </p> <p>Jaguar’s JAG201 therapy delivers a functional SHANK3 gene in place of a mutated or deleted version via a one-time injection to the brain’s cerebral ventricles. </p> <p>“This is a significant milestone for the approximately 30,000 individuals living with a genetic form of autism or Phelan-McDermid syndrome who can suffer from a range of clinical manifestations,” Joe Nolan, CEO of Jaguar Gene Therapy, told Autism Business News in an email. “Currently, there are no treatment options to address the root cause – we hope to change that.”</p><div class="inner-content-ad"><div id="600x250_e_middle" class="adyb show-ad-label" data-ad-mapping="middle" data-ad-slot="bhbusiness/bhb_autismweb" data-ad-targetingpos="e_middle" style="width: 100%; position: relative;" data-ad-device="desktop"></div><div class="ad-notice">Advertisement</div></div> <p>JAG201 is designed to “durably restore the synaptic function required for learning and memory which underlie appropriate neurodevelopment and maintenance of cognitive, communicative, social and motor skills.”</p> <p>The therapy has proved promising in preclinical studies in rodents and non-human primates, with “improvements in neurobehavioral, cognitive and motor function abnormalities.” </p> <p>People with a genetic form of autism or PMS can experience developmental delay, impaired speech, and worsening cognitive, social and motor function disability. The condition can ultimately require 24-hour care and supervision. </p> <p>“The interventions we offer can certainly help but, frankly, they’re inadequate,” Dr. Alexander Kolevzon, professor of psychiatry and pediatrics at the Icahn School of Medicine at Mount Sinai, said. “My patients and all those with SHANK3 haploinsufficiency deserve a treatment option that addresses the underlying biology.”</p> <p>Approximately 1% of patients with ASD have SHANK3 mutations, which equates to 30,000 patients in the U.S., but this may be an underestimate due to infrequent genetic testing. </p> <p>Among people who also have moderate to profound intellectual disability (ID), rates increase to 2.12%. </p> </div> <div class="author-block single-post-author-block"> <img alt='' src="data:image/svg+xml,%3Csvg%20xmlns='http://www.w3.org/2000/svg'%20viewBox='0%200%20100%20100'%3E%3C/svg%3E" data-lazy-srcset='https://secure.gravatar.com/avatar/f54f71b507ba9854deffbfb4beff8384?s=200&d=mm&r=g 2x' class='avatar avatar-100 photo' height='100' width='100' data-lazy-src="https://secure.gravatar.com/avatar/f54f71b507ba9854deffbfb4beff8384?s=100&d=mm&r=g" /><noscript><img alt='' src='https://secure.gravatar.com/avatar/f54f71b507ba9854deffbfb4beff8384?s=100&d=mm&r=g' srcset='https://secure.gravatar.com/avatar/f54f71b507ba9854deffbfb4beff8384?s=200&d=mm&r=g 2x' class='avatar avatar-100 photo' height='100' width='100' /></noscript> <div class="author-bio-and-links"> <h3 class="author-name"><a href="https://bhbusiness.com/author/mgonzales/">Morgan Gonzales</a></h3> <div class="author-bio"> <p>Morgan Gonzales is a reporter for Behavioral Health Business. She was educated at the University of South Carolina and the University of Georgia. She has previously worked for Daily Voice and as a health care and medical reporting fellow for Dallas Morning News. Her work has appeared in Kaiser Health News and U.S. News and World Report. 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