STAT Act to Benefit Research for Usher’s Syndrome
The Speeding Therapy Access Today (STAT) Act of 2021, H.R. 1730 / S. 670 was officially introduced earlier this week by Senators Amy Klobuchar (D-MN) and Roger Wicker (R-MS) in the Senate, and Representatives Gus Bilirakis (R-FL) and G.K. Butterfield (D-NC) in the House of Representatives.
This bipartisan legislation is a result of more than a year of collaborative effort by rare disease community partners and congressional leaders, working to identify opportunities to ensure that all rare disease communities receive access to safe and effective treatments and cures at the earliest moment possible.
What this means for the Usher syndrome community: The Usher Syndrome Coalition is joining forces with the EveryLife Foundation for Rare Diseases to promote this legislation. The STAT Act could help advance efforts to develop treatments and find a cure for Usher syndrome, one of over 7,000 rare diseases affecting more than 30 million Americans.
The STAT Act establishes a Rare Disease Center of Excellence at the Food and Drug Administration (FDA) that will improve the development of and access to therapies for the rare disease community by:
- Optimizing interagency coordination or rare disease expertise,
- Advancing science-based regulatory policies
- Targeting development for ultra-rare diseases, and
- Ensuring the intended patient populations ultimately receive access to approved therapies
It only takes a minute to help ensure this vision becomes a reality.
Contact your Members of Congress with the Everylife Foundation’s automated action alert and ask that they cosponsor the Speeding Therapy Access Today (STAT) Act.
Usher syndrome is the most common genetic cause of combined deafness and blindness.
More than 400,000 people are estimated to have Usher syndrome worldwide.
Usher syndrome impacts three major senses in the body:
Vision: progressive vision loss caused by retinitis pigmentosa (RP). RP causes the light-sensing cells in the retina to gradually deteriorate, initially resulting in night blindness, followed by a narrowing of the visual field, commonly known as tunnel vision. RP is inherited and can occur in individuals who are not deaf.
Hearing: Children with Usher syndrome are born with or develop hearing loss. It’s estimated that upward of 10 percent of individuals with congenital bilateral, sensorineural hearing loss have Usher syndrome.
Balance: Balance is achieved and maintained through input from your eyes, the vestibular organs in the inner ear and the sensory systems of the body, such as the skin, muscles, and joints. Individuals with certain types of Usher syndrome experience severe balance issues due to vestibular dysfunction.
Types: There are three clinical types of Usher syndrome: type 1, type 2 and type 3, which are distinguished by the severity and age when the signs and symptoms appear. There are at least eleven different subtypes of Usher syndrome, as determined by the genes that are involved. There are six different genes that cause Usher type 1, three that cause Usher type 2, and two that cause Usher type 3. One cannot determine the genetic type by clinical testing; DNA testing is the only reliable way of determining the true genetic type.