Egetis Therapeutics: Spotlight on MCT8 Deficiency Awareness
Raising Awareness for MCT8 Deficiency
Egetis Therapeutics AB (publ) (Nasdaq Stockholm: EGTX) is set to raise awareness for MCT8 deficiency, a rare genetic disorder, through its upcoming feature on the U.S. television series, Behind the Mystery™. This collaboration aims to coincide with Rare Disease Day, which is dedicated to highlighting the challenges faced by individuals suffering from rare conditions.
What is MCT8 Deficiency?
MCT8 deficiency is a serious condition caused by mutations in the gene responsible for encoding the monocarboxylate transporter 8 (MCT8). This transporter plays a crucial role in transporting thyroid hormones across cell membranes and into the brain, where they are vital for normal development. Patients with this deficiency experience a range of symptoms stemming from both underactive thyroid hormone function in the brain and overactive thyroid hormone levels in other tissues.
Highlighting Patient Experiences
The episode will include poignant narratives from the families navigating life with MCT8 deficiency. These stories are vital in illustrating the daily challenges faced, the journey to receiving a correct diagnosis, and the ongoing need for effective treatments. Contributors include healthcare experts such as Andrew J. Bauer, MD, and Jennifer Favre, who will share their insights and experiences regarding MCT8 deficiency.
Importance of the Collaboration
By collaborating with The Balancing Act and various advocacy groups, Egetis aims to amplify its message regarding the urgent need for treatment options. Anny Bedard, President North America at Egetis, emphasized the company's dedication based on core values of courage, commitment, and collaboration. This aligns with their efforts to fill the gap in treatment available for MCT8 deficiency patients.
Understanding the Burden of MCT8 Deficiency
It is critical to educate the public about MCT8 deficiency, characterized by symptoms of neurological developmental delays and various health challenges. The elevated thyroid hormone levels can lead to severe health complications, including cardiovascular stress and impaired growth. Currently, no approved therapies exist in the United States for this condition, making Egetis' recent approval of Emcitate (tiratricol) in Europe a significant development for awareness and potential treatment availability.
The Role of Rare Disease Day
Rare Disease Day, held annually on February 28, promotes awareness of the multitude of rare diseases affecting over 300 million patients globally. This day fosters a global community dedicated to advocacy and support for those impacted by rare conditions. Egetis Therapeutics’ feature on Behind the Mystery™ is a great way to honor this initiative.
Future Directions for Advocacy
With the goal of improving lives affected by MCT8 deficiency, Egetis Therapeutics is committed to continued efforts in raising awareness and advocating for research and funding. By leveraging platforms like Behind the Mystery™, they aim to connect with more families, healthcare professionals, and support networks to boost understanding and accessibility to potential treatments.
Contact Information
For more detailed information regarding their initiatives and the MCT8 deficiency awareness program, Egetis Therapeutics encourages individuals to reach out to Nicklas Westerholm, CEO, or Karl Hård, Head of Investor Relations & Business Development.
Frequently Asked Questions
What is Egetis Therapeutics working on?
Egetis Therapeutics focuses on developing treatments for serious diseases with significant unmet medical needs, particularly in the orphan drug segment.
What is MCT8 deficiency?
MCT8 deficiency is a rare metabolic disorder caused by mutations affecting the transport of thyroid hormones, leading to various neurological issues.
Where will the MCT8 deficiency feature be aired?
The feature will air on the U.S. series Behind the Mystery™ as part of increasing awareness for Rare Disease Day.
Is there a treatment currently approved for MCT8 deficiency in the U.S.?
No, at present, there are no FDA-approved treatments for MCT8 deficiency available in the United States.
How can I learn more about MCT8 deficiency?
For additional resources and information, individuals can visit MCT8deficiency.com, which provides insights and support for affected families.
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