{"id":46521,"date":"2022-07-25T15:01:57","date_gmt":"2022-07-25T13:01:57","guid":{"rendered":"https:\/\/pharma-trend.com\/en\/new-resource-for-the-galactosemia-community-launches-to-empower-families-as-they-navigate-lifelong-genetic-disease\/"},"modified":"2022-07-25T15:01:57","modified_gmt":"2022-07-25T13:01:57","slug":"new-resource-for-the-galactosemia-community-launches-to-empower-families-as-they-navigate-lifelong-genetic-disease","status":"publish","type":"post","link":"https:\/\/pharma-trend.com\/en\/new-resource-for-the-galactosemia-community-launches-to-empower-families-as-they-navigate-lifelong-genetic-disease\/","title":{"rendered":"New Resource for the Galactosemia Community Launches to Empower Families as They Navigate Lifelong Genetic Disease"},"content":{"rendered":"
\n

\n– The handbook presents information for each life stage of Type 1 galactosemia, with the aim of guiding patients and caregivers from newborn diagnosis through adulthood to help understand the disease lexicon, build a care team and educate their support network on the disease<\/i>\n<\/p>\n

\n– Created by the Galactosemia Foundation and made possible through support from Jaguar Gene Therapy, the handbook was developed from clinical guidelines, peer-reviewed data, members of the galactosemia community and input from renowned galactosemia experts including physicians, researchers, a metabolic dietician and a speech-language pathologist<\/i>\n<\/p>\n

ALBANY, N.Y. & LAKE FOREST, Ill.–(BUSINESS WIRE)–The Galactosemia Foundation<\/a>, a non-profit charitable organization that advocates for people with galactosemia and their families, and Jaguar Gene Therapy<\/a>, a biotechnology company accelerating breakthroughs in gene therapy for patients suffering from severe genetic diseases, including those that affect sizeable patient populations, today announced the publication of Navigating Galactosemia Life Stages: A Handbook for the Galactosemia Community.<\/i> The resource, developed with input from galactosemia experts, provides education and tools to help navigate the significant lifelong challenges of Type 1 galactosemia, a rare genetic disease caused by mutations in the GALT<\/i> gene that can lead to a severe deficiency in functional GALT enzyme. The handbook was created to support the galactosemia community in managing the many disease complications that can manifest throughout life.\n<\/p>\n

<\/a><\/p>\n

\n\u201cType 1 galactosemia can be associated with lifelong cognitive, neurological, speech and fertility complications. For patients and families, this means unique and significant challenges may occur at different stages of life,\u201d said Gerard T. Berry, M.D., Director, Metabolism Program at Boston Children\u2019s Hospital and Professor, Harvard Medical School and leading expert in galactosemia who supported the creation of the handbook. \u201cThis new handbook is an important milestone for the galactosemia community because for the first time, patients and families have access to one comprehensive resource with important information on disease management from health care providers, members of the galactosemia community and published research, to help them better understand and navigate all stages of life with Type 1 galactosemia.\u201d\n<\/p>\n

\nThe handbook was developed from clinical guidelines, peer-reviewed data, expert insights and first-hand experience from the galactosemia community. It presents information for each life stage of Type 1 galactosemia, with the aim of guiding patients and caregivers from newborn diagnosis through adulthood to help understand the disease lexicon, build a care team and educate their support network on the disease. The print edition of the handbook will be distributed at the Galactosemia Foundation 2022 Conference, which is taking place July 28-30 in Orlando, and to the families of those newly diagnosed who reach out to the foundation.\n<\/p>\n

\n\u201cI am incredibly proud of this new resource the Galactosemia Foundation will now be able to offer those living with Type 1 galactosemia and their families,\u201d said Nicole Casale, President of the Galactosemia Foundation. \u201cAs with many rare diseases, there has been limited and often fragmented information available on galactosemia, despite our community\u2019s need for these resources. This new handbook will empower individuals and families to better manage Type 1 galactosemia at each life stage.\u201d\n<\/p>\n

\nTo download a digital version of Navigating Galactosemia Life Stages: A Handbook for the Galactosemia Community<\/i>, please visit www.GalactosemiaHandbook.com<\/a>.\n<\/p>\n

\nAbout Type 1 Galactosemia
\n
<\/b>Type 1 galactosemia is a rare genetic disease that can be life-threatening for newborns and cause severe lifelong complications starting as early as the first year of life.1,2,3<\/sup> Galactosemia affects the body\u2019s ability to make the enzyme that breaks down galactose, a simple sugar the body endogenously produces and is also found in dairy and other foods, including breast milk.1,4,5<\/sup> Type 1 galactosemia is caused by mutations in the GALT <\/i>gene that lead to a severe deficiency in functional galactose-1-phosphate uridylyltransferase (GALT) enzyme, which causes a toxic buildup 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 insufficiency in girls and women.<\/i>1,2,4,5<\/sup> <\/i>Because of its severity, galactosemia is part of newborn screening in all 50 states of the United States and in several other countries.1,2,5<\/sup> No treatments are currently approved for galactosemia, and there is significant unmet medical need. The current standard of care \u2013 a galactose-restricted diet \u2013 is insufficient because the body endogenously produces galactose, causing patients to experience lifelong complications.2<\/sup>\n<\/p>\n

\nTo learn more about Type 1 galactosemia, view the Roundtable Discussion Understanding Type 1 Galactosemia<\/i><\/a>.\n<\/p>\n

\nAbout the Galactosemia Foundation
\n
<\/b>Galactosemia Foundation Inc. is a non-profit charitable organization that advocates for people with galactosemia and their families. Founded in November 1985, Galactosemia Foundation helps provide families information about Galactosemia and facilitates networking between families, clinicians and researchers. Our mission and objectives include education, support and advocacy for those affected by Galactosemia. For more information about the Galactosemia Foundation and its board of directors, please visit galactosemia.org, and follow the Galactosemia Foundation on Facebook<\/a> and LinkedIn<\/a>.\n<\/p>\n

\nAbout Jaguar Gene Therapy
\n
<\/b>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 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<\/i> 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 www.jaguargenetherapy.com<\/a> and follow Jaguar Gene Therapy on LinkedIn<\/a>.\n<\/p>\n

\nReferences
\n
<\/span>1<\/sup>Galactosemia. National Organization for Rare Disorders (NORD) Rare Disease Database. 2019. Accessed October 27, 2021. https:\/\/rarediseases.org\/rare-diseases\/galactosemia\/<\/a>
2<\/sup>Berry GT. Classic galactosemia and clinical variant galactosemia. February 4, 2000. Updated March 11, 2021. Accessed October 27, 2021. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1518\/<\/a>
3<\/sup>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<\/i>. 2010;16(2):177-188. https:\/\/doi.org\/10.1093\/humupd\/dmp038<\/a>
4<\/sup>GALT gene. MedlinePlus. August 18, 2020. Accessed October 27, 2021. https:\/\/medlineplus.gov\/genetics\/gene\/galt\/<\/a>
5<\/sup>Galactosemia. Genetic and Rare Diseases (GARD) Information Center. 2021. Accessed October 27, 2021. https:\/\/rarediseases.info.nih.gov\/diseases\/2424\/galactosemia<\/a>\n<\/p>\n

Contacts<\/b> <\/p>\n

\nGalactosemia Foundation Media Contact<\/b>
Jodie Solari
\n
media@galactosemia.org<\/a>
jodie.solari@galactosemia.org<\/a>
866.900.7421\n<\/p>\n

\nJaguar Media Contact<\/b>
Kate Neer
\n
media@jaguargenetherapy.com<\/a>
kneer@jaguargenetherapy.com<\/a>
815.978.3891\n<\/p>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

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