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Shining a Light on Spinocerebellar Ataxia: Raising Awareness for an Overlooked Disease this Rare Disease Day

2025-02-25T07:01:00

(BPT) – A rare disease is a disease, disorder, illness or condition that affects fewer than 200,000 Americans.1 Since rare diseases impact a small number of people, they often remain relatively unknown among the broader population.

In honor of Rare Disease Day, on February 28, 2025, Biohaven, a biopharmaceutical company focused on treatments for diseases with significant unmet needs, is bringing attention to spinocerebellar ataxia (SCA), a rare, progressively debilitating neurodegenerative disease that affects approximately 15,000 people in the U.S. and 24,000 in Europe and the United Kingdom.2

NORD®, the National Organization for Rare Disorders and official partner for Rare Disease Day in the U.S., is calling on the nation to “Show Your Stripes®” to shed light on rare diseases and generate support for all people on a rare medical journey. Amy M., who has lived with SCA for the last eight years, is showing her stripes by sharing her story about living with a rare disease that has no cure or FDA-approved treatment options. According to Amy, living with SCA is like “living in a physical prison that deteriorates your ability to have others understand you.”

Amy, an accomplished lawyer, lived her life unaware of having the disease until she began noticing changes in her body that couldn’t be explained. She started losing her balance, falling a lot and struggled with everyday things like wearing high-heeled shoes and going up and down stairs. “It is jarring, to find what were once seemingly mundane experiences, like climbing stairs or putting shoes on, become some of my greatest physical hardships,” said Amy. “And while the physical challenges that come with SCA are numerous, for me, the mental burden of this disease is what I have the most difficulty coming to terms with. I don’t want to accept the fact I could soon be in a wheelchair, without the ability to write or speak clearly, my independence stolen by SCA. But because there are no treatment options available for me, my only choice is to come to terms with my disease.”

SCA is a devastating disease that impacts all aspects of a person’s life as well as their family. People with SCA experience significant morbidity, including progression to a wheelchair, impaired gait leading to falls, inability to communicate due to speech impairment, difficulty swallowing, and premature death. While signs and symptoms can appear anytime from childhood to late adulthood, SCA typically presents in early adulthood and progresses over a number of years.

SCA is just one of the 10,000 rare diseases that have minimal or no treatment options.1 With 25-30 million Americans living with rare diseases,1 it’s crucial to continue to invest in research that offers hope to people living with diseases with significant unmet need. Biohaven currently has a New Drug Application under review with the FDA for a new treatment candidate for SCA.

Join Amy this Rare Disease Day by visiting NORD® and “showing your stripes” to show support for those living with rare diseases. To learn more about SCA and how Biohaven is reinforcing their commitment to help people like Amy through innovative research, visit Biohaven.com.

References

  1. NORD® Rare Disease Database. National Organization for Rare Disorders. Available at https://rarediseases.org/rare-diseases/. Accessed on February 4, 2025.
  2. Biohaven Reports Positive Phase 1 Degrader Data, Achieving Deep Targeted IgG Reductions in the Lowest Subcutaneous Dose Tested; Announces NDA Submission for Troriluzole in SCA and Provides Other Key Program Updates. December 16, 2024.

A rare disease is a disease, disorder, illness or condition that affects fewer than 200,000 Americans. Since rare diseases impact a small number of people, they often remain relatively unknown among the broader population.
In honor of Rare Disease Day, on February 28, 2025, Biohaven, a biopharmaceutical company focused on treatments for diseases with significant unmet needs, is bringing attention to spinocerebellar ataxia (SCA), a rare progressively debilitating neurodegenerative disease that affects approximately 15,000 people in the U.S. and 24,000 in Europe and the United Kingdom.2
NORD®, the National Organization for Rare Disorders and official partner for Rare Disease Day in the U.S., is calling on the nation to ‘Show Your Stripes®‘ to shed light on rare diseases and generate support for all people on a rare medical journey. Amy M., who has lived with SCA for the last eight years, is showing her stripes by sharing her story about living with a rare disease that has no cure or FDA-approved treatment options. According to Amy, living with SCA is like “living in a physical prison that deteriorates your ability to have others understand you.”
Amy, an accomplished lawyer, who lived her life unaware of having the disease until she began noticing changes in her body that couldn’t be explained. She started losing her balance, falling a lot and struggled with everyday things like wearing high-heeled shoes and going up and down stairs. “It is jarring, to find what were once seemingly mundane experiences, like climbing stairs or putting shoes on become some of my greatest physical hardships,” said Amy. “And while the physical challenges that come with SCA are numerous, for me, the mental burden of this disease is what I have the most difficulty coming to terms with. I don’t want to accept the fact I could soon be in a wheelchair, without the ability to write or speak clearly, my independence stolen by SCA. But because there are no treatment options available for me, my only choice is to come to terms with my disease.”
SCA is a devastating disease that impacts all aspects of a person’s life as well as their family. People with SCA experience significant morbidity, including progression to a wheelchair, impaired gait leading to falls, inability to communicate due to speech impairment, difficulty swallowing, and premature death. While signs and symptoms can appear anytime from childhood to late adulthood, SCA typically presents in early adulthood and progresses over a number of years.
SCA is just one of the 10,000 rare diseases that have minimal or no treatment options.1 With 25-30 million Americans living with rare diseases,1 it’s crucial to continue to invest in research that offers hope to people living with diseases with significant unmet need. Biohaven currently has a New Drug Application under review with FDA for a new treatment candidate for SCA.
Join Amy this Rare Disease Day by visiting NORD® and ‘sharing your stripes’ to show support for those living with rare diseases. To learn more about SCA and how Biohaven is reinforcing their commitment to help people like Amy through innovative research, visit Biohaven.com.
References
1. NORD® Rare Disease Database. National Organization for Rare Disorders. Available at https://rarediseases.org/rare-diseases/. Accessed on February 4, 2025.
2. Biohaven Reports Positive Phase 1 Degrader Data, Achieving Deep Targeted IgG Reductions in the Lowest Subcutaneous Dose Tested; Announces NDA Submission for Troriluzole in SCA and Provides Other Key Program Updates. December 16, 2024.

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