We are excited to share the announcement of our first gene-based therapeutic program for Phelan-McDermid syndrome!

CureSHANK is proud to have worked closely with the team at Jaguar Gene Therapy leading up to this announcement!

Press Release below and see FAQs Here

  • JAG101 is designed to address the root cause of Type 1 galactosemia by delivering the functional GALT gene to reduce multiple toxic metabolites

  • JAG201 is designed to address mutation or deletion of the SHANK3 gene, a leading autism candidate gene, by delivering SHANK3 gene replacement therapy

  • JAG301 is designed to produce functional beta cells in the pancreas and restore insulin secretion in Type 1 diabetes through transdifferentiation using the PAX4 gene

LAKE FOREST, Ill., Dec. 14, 2021 – Jaguar Gene Therapy, a company accelerating breakthroughs in gene therapy for sizeable patient populations suffering from severe genetic diseases, today announced additional details, including target genes, for its initial preclinical pipeline programs: JAG101 for Type 1 galactosemia; JAG201 for a genetic cause of autism spectrum disorder (ASD) and Phelan-McDermid syndrome and other severe neurodevelopmental disorders with a SHANK3 mutation or deletion; and JAG301 for Type 1 diabetes.

“We are excited to share more details around our initial pipeline programs, which aim to address the root cause of a range of severe genetic diseases in sizeable patient populations,” said Joe Nolan, CEO of Jaguar Gene Therapy. “The promising preclinical proof-of-concept data that has been generated in academic settings coupled with the significant unmet medical need, inspired us to pursue the development of potentially transformative therapies for patients and families suffering with devastating diseases, including Type 1 galactosemia, a genetic form of ASD, Phelan-McDermid syndrome and other severe neurodevelopmental disorders with a SHANK3 mutation or deletion, and Type 1 diabetes.”

JAG101 for Type 1 Galactosemia

Type 1 galactosemia is a severe genetic disease caused by mutations in the GALT gene, leading to a severe deficiency of the GALT enzyme that breaks down galactose, a simple sugar found in dairy and other foods including breast milk. The toxic buildup of galactose and other metabolites, including GAL-1p and galactitol, that result from GALT enzyme deficiency is life-threatening in newborns and leads to lifelong neurological, speech and behavioral complications, as well as primary ovarian insufficiency in girls and women. Newborn screening is in place in all 50 states of the United States due to the life-threatening consequences of the buildup of multiple toxic metabolites that results from GALT enzyme deficiency. No treatments are currently approved for galactosemia, and there is significant unmet medical need. The current standard of care – a galactose-restricted diet – is insufficient because the body naturally produces galactose, causing chronic exposure to multiple toxic metabolites that results in patients experiencing lifelong complications.

Jaguar is advancing JAG101, an investigational gene therapy currently in preclinical development that aims to deliver a gene replacement solution to address the root cause of Type 1 galactosemia by delivering the functional GALT gene via the AAV9 vector. Gene therapy offers to potentially reduce multiple toxic metabolites, bringing them closer to a normal level. The treatment is intended for younger patients, where there is urgency to potentially prevent lifelong complications. Jaguar has research agreements in place for the program with Emory University and the University of Utah, where encouraging preclinical proof-of-concept data was produced.

JAG201 for a Genetic Cause of Autism Spectrum Disorder and Phelan-McDermid Syndrome and Other Severe Neurodevelopmental Disorders with a SHANK3 Mutation or Deletion

Individuals can be diagnosed with ASD, Phelan-McDermid syndrome and/or other severe neurodevelopmental disorders if a mutation or deletion in the SHANK3 gene is present. Disorders that result from a SHANK3 mutation or deletion are associated with prefrontal lobe dysfunction, autism, moderate to severe intellectual disability, absent or severely delayed speech, and neurodevelopmental behavioral abnormalities among other characteristics. SHANK3 is a leading candidate gene thought to cause ASD. In the United States, approximately 30,000 individuals living with ASD have a SHANK3 mutation or deletion. Currently, there is no treatment available for disorders that result from a SHANK3 mutation or deletion.

Jaguar is advancing JAG201, an investigational gene therapy currently in preclinical development that aims to deliver appropriate SHANK3 genetic function via the AAV9 vector to treat the root cause of the disease and rescue behavioral abnormalities​. The program is exclusively licensed from Broad Institute of MIT and Harvard, where encouraging preclinical proof-of-concept data was produced.

JAG301 for Type 1 Diabetes

Type 1 diabetes is an autoimmune disease that destroys beta cells, which are specialized cells in the pancreas that produce insulin. A lack of insulin results in the inability of cells to use glucose for energy and unregulated glucose levels in the blood, which can lead to long-term complications, including frequent hospitalizations, blindness, heart disease, stroke, kidney disease and nerve damage. No cure is available today, and treatment is based on diet, insulin injections and continuous glucose monitoring. In the United States, approximately 1.5 million individuals are living with Type 1 diabetes.

Jaguar Gene Therapy is advancing JAG301, an investigational AAV-based gene therapy currently in preclinical development that works to address the root cause of the disease by producing functional beta cells using the PAX4 gene to convert alpha cells to beta cells, a process called transdifferentiation. Jaguar has exclusively licensed the program from Tulane University, where encouraging preclinical proof-of-concept data was produced. Additionally, Jaguar has a research agreement in place with Tulane.

“The gene of interest targets for each of our programs were carefully selected based on promising scientific data from world-renowned academic institutions, giving us confidence that it’s possible to safely and effectively treat rare disease populations as well as larger disease states,” said Suku Nagendran, M.D., President of R&D at Jaguar. “There is significant unmet medical need across all our initial pipeline programs, and the combination of our cutting-edge science and unparalleled CMC (Chemistry, Manufacturing and Controls) capabilities positions us to deliver for the patients and families waiting for treatment options.”

The company will leverage its internal CMC expertise, its process sciences lab in Cary, North Carolina, and, once fully converted, its recently announced state-of-the-art gene therapy commercial manufacturing facility in Durham, North Carolina, in addition to existing contract development manufacturing organization (CDMO) partners to support all programs. Jaguar plans to use the latest technologies and purification techniques to increase product yields while reducing product impurities. The team’s experience in developing a scalable and commercially viable manufacturing process at the outset has guided the company’s approach to invest early and often in manufacturing and quality. In doing so, Jaguar aims to be on the leading edge of producing the purest and most efficacious gene therapy products in the world.

About Jaguar Gene Therapy

Jaguar Gene Therapy, LLC is dedicated to accelerating breakthroughs in gene therapy for patients suffering from severe genetic diseases including those that impact sizeable patient populations. The company is made up of a proven and growing team of experts with unparalleled CMC (Chemistry, Manufacturing and Controls), regulatory, clinical and commercial acumen who have first-hand experience in bringing novel gene therapy treatments to patients and their families. Committed to patient safety and product purity, Jaguar is rapidly advancing an initial pipeline of three programs targeting: 1) Type 1 galactosemia; 2) a genetic cause of autism spectrum disorder and Phelan-McDermid syndrome and other severe neurodevelopmental disorders with a SHANK3 mutation or deletion; and 3) Type 1 diabetes. The company continues to evaluate opportunities to expand its pipeline using the strength of the team and close relationships with numerous academic institutions. For more information, please visit and follow Jaguar Gene Therapy on LinkedIn.

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CureSHANK is a proud member of COMBINEDbrain a non-profit consortium of 25 patient-advocacy groups, each representing a different rare genetic neurodevelopmental disorder. COMBINEDBrain’s mission is to speed clinical trial readiness for severe cognitive disorders by pooling resources and working together across all of our member disorders.

We are glad to participate in CB because of our shared mission. We are both devoted to speeding the path to clinical treatments for people with severe rare genetic non-verbal neurodevelopmental disorders.

The other members of CB that we are in collaboration with (in reverse alphabetical order) are:

Yellow Brick Road Project (HNRNPH2) is represented by Trish Flanagan, President. The YBRP connects families and drives research forward into HNRNPH2 mutations to improve these rare patients' lives. This is a small but fiesty organization who are laser focused on getting to clinical trials, treatments and a cure for the rare X-linked HNRNPH2 related neruro-developmental disorder.

Schinzel-Giedion Syndrome Foundation (SGS) is represented by Nuala Summerfield, Founder and Chair. The organization’s mission is to provide support to families caring for a child with SGS, to raise awareness of SGS and to facilitate and support medical research that will help find better treatments to improve the quality and length of life of children living with SGS. The Schinzel-Giedion Syndrome Foundation is the only patient organisation for SGS and represents the international SGS community.

SynGAP Research Fund (SRF) is represented by Mike Graglia, Managing Director & co-founder. SRF’s mission is to support the research and development of treatments, therapies and support systems for SynGAP1 patients worldwide. SRF is entirely parent led and has committed over $1.2M to research since it was created, 100% of donations go directly to support research.

STXBP1 Foundation is represented by Charlene Son Rigby, President. The STXBP1 Foundation's mission is to raise awareness of STXBP1 disorders, and to accelerate the development of therapies and hopefully a cure for our patients.

SLC6A1 Connect is represented by Amber Freed, CEO & Co-Founder. The mission of SLC6A1 Connect is to cure every person with SLC6A1.

SETBP1 Society is represented by Haley Oyler, President. Their mission is to provide support to individuals with SETBP1 disorder and their families, to promote discussion and fund research, and to bring awareness and education to the public. SETBP1 Society is an internationally-focused volunteer 501(c)(3) organization based in the US with a focus to identify targeted treatments to help individuals impacted by SETBP1 disorder.

SATB2 Gene Foundation is represented by Allison Kaczenski, President & Founder. The SATB2 Gene Foundation was established to enrich the lives of individuals with SATB2-associated syndrome, including those diagnosed with the condition and their families, through support, research and education.

Project 8p Foundation is led by Bina Maniar Shah, President & Founder. Project 8p Foundation is a 501(c)(3) non profit organization established to accelerate the discovery of treatments for chromosome 8p disorders with a translational research program and a standard of care to empower meaningful lives in a unified community today. Chromosome 8p is not just a rare genetic disease, but the many genes and pathways can be clues to common brain-related diseases.

Project Alive is represented by Kim Stephens, DBA, President Their mission is to find and fund a cure for Hunter Syndrome (also known as Mucopolysaccharidosis or MPS II) through research and advocacy.Project Alive is a powerful voice for children and adults with Hunter Syndrome, bringing together families and advocates with researchers, industry, and regulators.

PBD Project is represented by Andrew Longenecker, Founder. Their mission is to PBD Project is to fund medical research with the objective to provide meaningful positive clinical impact for patients with Peroxisome Biogenesis Disorders (PBD), with a focus on Zellweger Spectrum Disorder (ZSD) caused by mutations to PEX10 gene.

NR2F1 Foundation is represented by Carlie Monnier, Board President. The mission of the NR2F1 Foundation is to empower families and individuals living with rare NR2F1 mutations through education, awareness and research. As a result of joining forces with other foundations, we aim to be leaders in patient empowerment and patient-led research for the rare disease community at large ultimately serving as a model to other organizations.

Malan Syndrome Foundation is represented by Dr. Christal Delagrammatikas. The mission of the Malan Syndrome Foundation is to improve the lives of individuals and families affected by Malan syndrome in the global community through support, outreach and research.. The Malan Syndrome Foundation is a volunteer, parent-led organization.

KIF1A.ORG is represented by Kathryn Atchely, President. KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder and accelerating research to find a cure. Our relentless community of families, researchers, clinicians, innovators and supporters are determined to bring treatment to this generation of people affected by KAND.

GRIN2B Foundation is represented by Liz Marfia Ash, President & Founder. GRIN2B Foundation is a parent-run organization dedicated to furthering research on the GRIN2B gene and providing support and education to the small, but growing community of individuals and families impacted by a GRIN2B diagnosis. Though GRIN2B Foundation was the first GRIN2B-related organization formed, we are very proud to work in collaboration with many other GRIN2B and GRIN Disorder organizations that have since formed worldwide.

Glut1 Deficiency Foundation is represented by Glenna Steele, Executive Director. The Glut1 Deficiency Foundation is a nonprofit patient advocacy organization dedicated to improving lives in the Glut1 Deficiency community through its mission of increased awareness, improved education, advocacy for patients and families, and support and funding for research. We are working hard to bring help and hope to the Glut1 Deficiency community.

FOXG1 Research Foundation is represented by Nasha Fitter, CEO, Head of Research. The mission of the FOXG1 Research Foundation to accelerate research to find a cure for FOXG1 syndrome. We are dedicated to funding the world's leading scientists that are integral along the Path to a Cure for all children with FOXG1 syndrome. We will continue to apply our research to solve related brain disorders.

Foundation for USP7 Related Diseases is represented by Bo Bigelow, Chairman/Co-Founder. Their mission is to cure Hao-Fountain Syndrome (previously known as USP7-related diseases). We do this by funding research and identifying more patients. In funding research, we seek to (1) uncover methods of activating USP7 to rescue this haploinsufficient phenotype; and (2) understand how alterations in proper functioning of endosomal protein recycling cause seizures and other neurological problems.

FamilieSCN2A Foundation is represented by Leah Schust Myers, Executive Director. Their vision is to find effective treatments and a cure for SCN2A related disorders. Their mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy. FamilieSCN2A Foundation was created by parents of children suffering from SCN2A related disorders who work unwaveringly to support both families and research.

CureGPX4 is represented by Sanath Kumar Ramesh, Founder. The organizations mission is to create treatments to Spondylometaphyseal Dysplasia Sedaghatian type (SSMD).

CureSHANK is represented by Geraldine Bliss, Founder and President. Their mission is to accelerate the development of treatments for Phelan-McDermid Syndrome and SHANK-related disorders. Their approach is to identify and fund projects that overcome critical barriers to successful drug development and to coordinate scientific efforts to improve efficiency and speed in the field.

CureGRIN is represented by Keith McArthur ,CEO and Head of Science. Their mission is to improve the lives of people living with GRIN Disorder. The foundation is founded and run by parents that are committed to improve the lives of people with GRIN disorder.

CHAMP1 Research Foundation is represented by Jeff D'Angelo, Founder, Research Committee Chair. Their mission is to improve the lives of those affected by CHAMP1 through clinical research, effective treatments, public awareness, early detection, family support and patient advocacy.

CACNA1A Foundation is represented by Lisa Manaster , President. Their mission is to increase awareness of CACNA1A variants, support individuals and families affected by CACNA1A, and raise funds to support research and treatment options to find a cure for CACNA1A.

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What do the SHANK3 gene and Phelan-McDermid Syndrome have to do with autism? Based on the existing research that’s been done, they have a lot in common.

SHANK3 is one of the top autism genes! Help us accelerate research by making a donation to CureSHANK in honor of Autism Awareness Month/Day. Thank you!

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