Launching a New Resource for the Galactosemia Community to Empower Families to Face Lifelong Genetic Conditions | New

ALBANY, NY & LAKE FOREST, Illinois–(BUSINESS WIRE)–July 25, 2022–

The Galactosemia Foundationa non-profit charitable organization that advocates for people with galactosemia and their families, and Jaguar gene therapya biotechnology company that is accelerating breakthroughs in gene therapy for patients with serious genetic diseases, including those that affect large patient populations, today announced the publication of Navigating the Galactosemia Life Stages: A Handbook for the Galactosemia Community. The resource, developed with input from galactosemia experts, provides training and tools to help overcome the significant challenges of galactosemia type 1, a rare genetic disease caused by mutations in the GALT gene that can lead to a severe deficiency in the functional enzyme GALT. The manual was created to help the galactosemia community manage the many complications of the disease that can manifest throughout life.

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“Type 1 galactosemia can be associated with lifelong cognitive, neurological, speech and fertility complications. For patients and families, this means unique and significant challenges can arise at different stages of life,” said Gerard T. Berry, MD, director of the metabolism program at Boston Children’s Hospital and professor at Harvard Medical School. and leading galactosemia expert who supported the creation of the manual. “This new handbook is an important milestone for the galactosemia community because for the first time, patients and families have access to a comprehensive resource with important disease management information from healthcare providers, members of the galactosemia community and published research, to help them better understand and navigate all stages of living with galactosemia type 1.”

The manual was developed from clinical guidelines, peer-reviewed data, expert opinion, and first-hand experience from the galactosemia community. It presents information for each stage in the life of galactosemia type 1, with the aim of guiding patients and caregivers from diagnosis from newborn to adulthood to help understand the lexicon of the disease, build a care team and educate their support network about the disease. The print edition of the manual will be distributed at the Galactosemia Foundation 2022 conference, which runs July 28-30 in Orlando, and to families of newly diagnosed individuals who contact the foundation.

“I am incredibly proud of this new resource that the Galactosemia Foundation will now be able to offer people living with galactosemia type 1 and their families,” said Nicole Casale, president of the Galactosemia Foundation. “As with many rare diseases, the information available on galactosemia is limited and often fragmented, despite our community’s need for these resources. This new manual will enable individuals and families to better manage type 1 galactosemia at every stage of life.

To download a digital version of Navigating the Galactosemia Life Stages: A Handbook for the Galactosemia Communityplease visit www.GalactosemiaHandbook.com.

About galactosemia type 1

Galactosemia type 1 is a rare genetic disease that can be fatal to newborns and lead to serious lifelong complications from the first year of life. 1,2,3 Galactosemia affects the body’s ability to make the enzyme that breaks down galactose, a simple sugar that the body produces endogenously and is also found in dairy products and other foods, including breastmilk. 1,4,5 Galactosemia type 1 is caused by mutations in GALT gene that leads to a severe deficiency in the functional enzyme galactose-1-phosphate uridylyltransferase (GALT), which causes toxic accumulation of galactose and its metabolites, including Gal-1P and galactitol. This buildup of toxic metabolites is a life-threatening medical emergency in newborns and can contribute to lifelong cognitive, neurological, and speech complications, as well as primary ovarian failure in girls and women. . .1,2,4,5 Due to its severity, galactosemia is part of newborn screening in all 50 states of the United States and several other countries. 1,2,5 There are currently no approved treatments for galactosemia, and there are significant unmet medical needs. The current standard of care – a galactose-restricted diet – is insufficient because the body endogenously produces galactose, leading to lifelong complications for patients. 2

To learn more about galactosemia type 1, see the roundtable Understanding galactosemia type 1.

About the Galactosemia Foundation

Galactosemia Foundation Inc. is a nonprofit, charitable organization that advocates for people with galactosemia and their families. Founded in November 1985, the Galactosemia Foundation helps provide families with information about galactosemia and facilitates networking between families, clinicians and researchers. Our mission and goals include the education, support and advocacy of those affected by galactosemia. For more information about the Galactosemia Foundation and its Board of Trustees, please visit galactosemia.organd follow the Galactosemia Foundation on Facebook and LinkedIn.

About Jaguar Gene Therapy

Jaguar Gene Therapy, LLC is dedicated to accelerating breakthroughs in gene therapy for patients with serious genetic diseases, including those that affect large patient populations. The company is comprised of a team of proven experts with unrivaled CMC (chemistry, manufacturing and controls), regulatory, clinical and business acumen who have first-hand experience in bringing novel gene therapy treatments to patients. and to their families. Committed to patient safety and product purity, Jaguar is rapidly advancing an initial pipeline of three programs targeting: 1) galactosemia type 1; 2) a genetic cause of autism spectrum disorders and Phelan-McDermid syndrome and other severe neurodevelopmental disorders with a STEM3 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 jaguargenetherapy.com and follow Jaguar Gene Therapy on LinkedIn.

References

1 Galactosemia. National Organization for Rare Diseases (NORD) Rare Disease Database. 2019. Accessed October 27, 2021. https://rarediseases.org/rare-diseases/galactosemia/

2 Berry GTs. Classic galactosemia and clinical variant of galactosemia. February 4, 2000. Updated March 11, 2021. Accessed October 27, 2021. https://www.ncbi.nlm.nih.gov/books/NBK1518/

3 Rubio-Gozalbo ME, Gubbels CS, Bakker JA, Menheere PPCA, Wodzig WKWH, Land JA. Gonadal function in male and female patients with classic galactosemia. Hum Reprod Update. 2010;16(2):177-188. https://doi.org/10.1093/humupd/dmp038

4 GALT gene. MedlinePlus. August 18, 2020. Accessed October 27, 2021. https://medlineplus.gov/genetics/gene/galt/

5 Galactosemia. Genetic and Rare Diseases Information Center (GARD). 2021. Accessed October 27, 2021. https://rarediseases.info.nih.gov/diseases/2424/galactosemia

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CONTACT: Galactosemia Foundation Media Contact

Jodie Solari

[email protected]

[email protected]

866.900.7421Jaguar Media Contact

Kate Neer

[email protected]

[email protected]

815.978.3891

KEYWORD: ILLINOIS NEW YORK UNITED STATES NORTH AMERICA

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SOURCE: Jaguar Gene Therapy, LLC

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PUBLISHED: 07/25/2022 09:00 / DISK: 07/25/2022 09:02

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