{"id":154046,"date":"2019-09-19T08:29:13","date_gmt":"2019-09-19T12:29:13","guid":{"rendered":"https:\/\/today.uconn.edu\/?p=154046"},"modified":"2019-09-19T11:06:35","modified_gmt":"2019-09-19T15:06:35","slug":"worlds-first-gene-therapy-treatment-glycogen-storage-disease-produces-remarkable-results","status":"publish","type":"post","link":"https:\/\/today.uconn.edu\/2019\/09\/worlds-first-gene-therapy-treatment-glycogen-storage-disease-produces-remarkable-results\/","title":{"rendered":"World\u2019s First Gene Therapy for Glycogen Storage Disease Produces Remarkable Results"},"content":{"rendered":"

At the Association for Glycogen Storage Disease\u2019s 41st<\/sup> Annual Conference<\/a>, Dr. David Weinstein of UConn School of Medicine and Connecticut Children\u2019s presented his groundbreaking, one-year clinical trial results for the novel gene therapy treatment for glycogen storage disease (GSD).<\/p>\n

The rare and deadly genetic liver disorder, GSD type Ia, affects children from infancy through adulthood, causing dangerously low blood sugar levels and constant dependence on glucose consumption in the form of cornstarch every few hours for survival. If a cornstarch dose is missed, the disease can lead to seizures and even death.<\/p>\n

Weinstein, whose team first administered the investigational gene therapy at UConn John Dempsey Hospital in Farmington, Connecticut, on July 24, 2018, calls the results “remarkable.\u201d<\/p>\n

One year after patient Jerrod Watts first received the GSD vaccine during a 30-minute infusion, he is completely off of cornstarch. <\/em>In addition to totally stopping daily cornstarch consumption, Watts has experienced normal regulation of his blood glucose levels, weight loss, increased muscle strength, and marked improvement in his energy.<\/p>\n

\u201cThe clinical trial is going better than expected. The therapy is transforming patient lives,” says Weinstein. “We have seen all of the patients wean their therapy with some already discontinuing treatment. Missed cornstarch doses no longer are resulting in hypoglycemia, which previously could have been life threatening.\u201d<\/p>\n

\"\"
Jerrod Watts is a patient enrolled in the first clinical trial for Glycogen Storage Disease (GSD). (Tina Encarnacion\/UConn Health photo)<\/figcaption><\/figure>\n

Weinstein, the clinical trial\u2019s lead investigator, is pediatric endocrinologist-scientist who cares for more than 700 GSD patients from 51 countries as director of the Glycogen Storage Disease Program<\/a>\u00a0at\u00a0Connecticut Children\u2019s<\/a>\u00a0and\u00a0UConn Health<\/a>\u00a0— the largest center in the world for the care and treatment of this condition.<\/p>\n

The clinical trial, conducted in conjunction with the biopharmaceutical company Ultragenyx<\/a>, originally set out to simply test the safety and dosage of the gene therapy for three patients with GSD Type Ia.<\/p>\n

The gene therapy works by delivering a new copy of a gene to the liver via a naturally occurring virus. Administered through the patient\u2019s bloodstream, the new copy replaces deficient sugar enzymes caused by the disease and jump starts the body\u2019s glucose control.<\/p>\n

Both Weinstein and Watts were surprised by Watts’ response to the gene therapy.<\/p>\n

\u201cWe were just making sure it was safe for humans to take, that was our initial goal. The results are way beyond my imagination,\u201d says Weinstein. \u201cThe patients who are finishing the first year got what we all thought was a test dose — one-third strength — yet the response has been dramatic. They can now go through the night without any treatment and they wake up clinically well.\u201d<\/p>\n

Prior to the treatment, Watts was consuming more than 400 grams of cornstarch per day. The GSD Program\u2019s multidisciplinary team at Connecticut Children\u2019s provides comprehensive clinical care to patients, while the program\u2019s research laboratories and clinical trial are located at UConn School of Medicine at UConn Health.<\/p>\n

\u201cThe main thing I want to do is inspire hope. One of the biggest reliefs from this gene therapy is I can now sleep through the night without worrying about dying in the middle of the night. I wake up 6 to 7 hours later with normal blood sugar.\u201d<\/p>\n

\u201cI\u2019m living, breathing proof that there is a light at the end of the tunnel with GSD. I\u2019m a completely different person now that I was a year ago. I feel like I can live a normal life and I can do anything I want to do now,\u201d says Watts.<\/p>\n

His message to other patients: \u201cPlease don\u2019t give up hope.\u201d<\/p>\n

In addition to Watts, two other clinical trial cohort patients are seeing promising results on the lower cornstarch daily regimens. All three will participate in the next phase — a 4-year follow-up clinical trial study. In addition, three patients are enrolled in clinical trial testing a higher gene therapy dose.<\/p>\n

\u201cWhat\u2019s exciting is if it works this well with the low dose, what does the future hold?,” says Weinstein.” If the patients are already coming off cornstarch and the labs are getting better, we just hope it will be even faster and more dramatic with the higher dose.\u201d<\/p>\n

\u201cThis gene therapy treatment is something we\u2019ve worked on for 21 years. This means so much to the glycogen storage disease community,\u201d says Weinstein. \u201cTo see patients off cornstarch and doing so well really is a culmination of an incredible journey … We feel like we\u2019re living history.\u201d<\/p>\n

About GSD<\/strong><\/p>\n

Normal, healthy livers store excess sugar from food for the body\u2019s future energy needs and release it into the bloodstream when needed in the form of processed sugar enzymes known as glycogen. But in GSD patients, the liver fails to break down glycogen into glucose, causing the body\u2019s blood sugar levels to drop. GSD Type Ia, affects an estimated 6,000 patients worldwide, which is caused by a defective gene for the enzyme glucose-6-phosphatase-\u03b1 (G6Pase-\u03b1) that controls sugar release from the liver. The condition was almost always fatal until 1971, when it was discovered that continuous glucose therapy could help these patients. Cornstarch therapy was introduced as a slow release form of glucose in 1982, and it allowed feeds to be spaced to every three to four hours. Thanks to cornstarch, a greater number of patients with GSD are now surviving into adulthood.<\/p>\n

For more information visit the GSD Program\u2019s\u00a0<\/em>website<\/em><\/a>\u00a0or call: 860-837-7800.<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

The clinical trial originally set out to simply test the safety and dosage of the gene therapy for three patients with GSD Type Ia. The dramatic improvement in their lives was unexpected.<\/p>\n","protected":false},"author":98,"featured_media":154374,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"video","meta":{"_acf_changed":false,"_crdt_document":"","wds_primary_category":0,"wds_primary_series":0,"wds_primary_attribution":0,"footnotes":""},"categories":[2231,2076,1868,179],"tags":[],"magazine-issues":[],"coauthors":[1873],"class_list":["post-154046","post","type-post","status-publish","format-video","has-post-thumbnail","hentry","category-health-well-being","category-research","category-meds","category-uconn-health","post_format-post-format-video"],"pp_statuses_selecting_workflow":false,"pp_workflow_action":"current","pp_status_selection":"publish","acf":[],"publishpress_future_action":{"enabled":false,"date":"2026-05-09 20:40:17","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category","extraData":[]},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/154046","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/users\/98"}],"replies":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/comments?post=154046"}],"version-history":[{"count":15,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/154046\/revisions"}],"predecessor-version":[{"id":154402,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/154046\/revisions\/154402"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/media\/154374"}],"wp:attachment":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/media?parent=154046"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/categories?post=154046"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/tags?post=154046"},{"taxonomy":"magazine-issue","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/magazine-issues?post=154046"},{"taxonomy":"author","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/coauthors?post=154046"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}