September 22, 2022
September 25 is International Ataxia Awareness Day. Continue reading to learn more about the day and Cure Rare Disease’s progress in developing an antisense oligonucleotide (ASO) therapeutic to treat Spinocerebellar ataxia type 3 (SCA3).
About International Ataxia Awareness Day
International Ataxia Awareness Day (IAAD) takes place on September 25 every year. Ataxia refers to a group of disorders that result in a lack of coordination and muscle control, of which SCA3 is one. On this day, individuals and organizations around the world work together to raise awareness about these conditions.
What is Spinocerebellar ataxia type 3 (SCA3)?
Spinocerebellar ataxia type 3 (SCA3) is caused by a mutation in the ATXN3 gene, which codes for the enzyme ataxin-3. Ataxin-3 is found in cells throughout the body and is involved in the process that destroys and removes damaged or extra proteins. It is believed that ataxin-3 is also involved in transcription, the first stage of protein synthesis. The disease has a prevalence of 1 to 5 in 100,000 people. Symptoms can include clumsiness in the arms and legs and when walking, along with difficulty swallowing or speaking. People with SCA3 may also experience impaired eye movement or vision, nerve damage, twitching in the face and tongue, muscle spasms, and/or abnormal posture due to abnormal muscle tone.
SCA3 Pipeline Update
CRD is working with Leiden University Medical Center to develop an antisense oligonucleotide (ASO) therapeutic to treat SCA3. The therapy has achieved its Stage 2 goals, which include completion of in vitro efficacy and toxicology studies, allowing for the identification of a clinical candidate. We are currently in stage 3 of the development pathway for SCA3, which involves analyzing drug efficacy through in vivo testing. CRD has completed non-GLP toxicology studies and is entering the preIND phase. The purpose of a preIND meeting is to present the research that has been done up to this point to the FDA for feedback. Clinical dosing is expected to occur in the next few years. You can learn more about CRD’s progress with our SCA3 therapeutic here.