Large-Scale Research and Grassroots Patient Advocacy Collaborations Led to Historic Milestone for Rare Disease Community
Zatolmilast was discovered by Tetra Therapeutics, which was acquired by Shionogi in 2020. The drug is also being evaluated for Fragile X syndrome (FXS), the leading cause of inherited intellectual disabilities,3 in a pivotal Phase 2b/3 program in the U.S.
About the Zatolmilast Clinical Program in FXS
Shionogi is currently conducting multicenter, late-stage (Phase 2b/3) clinical studies to further evaluate the safety and efficacy of zatolmilast on cognition and other aspects of FXS.10-12 The zatolmilast FXS clinical program, which has also been referred to as BPN14770-CNS-204,10 BPN14770-CNS-301,11 BBPN14770-CNS-30212 and the Tetra studies, is now known as the EXPERIENCE (Evaluation of Fragile X Experience in Cognition Expression) clinical trials, which include EXPERIENCE-204 (adolescent)10, EXPERIENCE-301 (adult)11 and EXPERIENCE-302 (open-label extension).12
About Jordan’s Guardian Angels
Jordan’s Guardian Angels is a Sacramento-based non-profit foundation working to unlock some of the world’s greatest medical mysteries.13 Jordan’s Guardian Angels is leading groundbreaking international research into a mutation on the genes PPP2R5D (Jordan’s Syndrome), PPP2R5C, and PPP2R1A.13 It causes global developmental delays among other symptoms and is linked to autism, epilepsy, Alzheimer’s, cancer and Parkinson’s.13 Jordan’s Guardian Angels has united families around the world. In partnership with major research institutions, Jordan’s Guardian Angels is on a mission to make a better future for our children, and potentially millions more, through research that world-renowned medical experts believe will change the world.13
About Shionogi in Rare Disease
About Shionogi & Co., Ltd.
Forward-Looking Statements
For Further Information, Contact:
SHIONOGI Website Inquiry Form: https://www.shionogi.com/global/en/contact.html
U.S. Media Contact: ShionogiCommunications@shionogi.com
Jordan’s Guardian Angels Media Contact: cjanes@jordansguardianangels.org
References
1. Study of Zatolmilast (BPN14770) in Participants With PPP2R5D Neurodevelopmental Disorder (Jordan's Syndrome [JS]). National Library of Medicine. Accessed December 24, 2024. Available at https://clinicaltrials.gov/study/NCT06717438?cond=Jordan%27s%20Syndrome&rank=1.
2. Clinical Trial Protocol. Protocol Title: A Phase 2 Randomized, Double-blind, Placebo-controlled, Study of Zatolmilast (BPN14770) in Subjects with PPP2R5D Neurodevelopmental Disorder (Jordan’s Syndrome).
3. Fragile X Syndrome (FXS). Cleveland Clinic. Accessed January 21, 2025. Available at: https://my.clevelandclinic.org/health/diseases/5476-fragile-x-syndrome.
- 4. Smith CIE, et al. Estimating the number of diseases - the concept of rare, ultra-rare, and hyper-rare. iScience. 2022 Jul 1;25(8):104698. doi: 10.1016/j.isci.2022.104698. PMID: 35856030; PMCID: PMC9287598.
- 5. Levine AD, et al. Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care. Cold Spring Harb Mol Case Stud. 2023 Jul 11;9(3):a006285. doi: 10.1101/mcs.a006285. PMID: 37339871; PMCID: PMC10393186.
- 6. GENE GUIDE: PPP2R5D-Related Syndrome. Simon’s Searchlight. Accessed January 14, 2025. Available at: https://www.simonssearchlight.org/gene-guide/ppp2r5d/.
- 7. Data on file at Jordan’s Guardian Angels.
- 8. Rare Pediatric Disease Designation and Priority Review Voucher Programs. The U.S. Food and Drug Administration. Accessed January 21, 2025. Available at: https://www.fda.gov/industry/medical-products-rare-diseases-and-conditions/rare-pediatric-disease-designation-and-priority-review-voucher-programs.
- 9. Berry-Kravis EM, Harnett MD, Reines SA, et al. Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial. Nat Med 27, 862–870 (2021). https://doi.org/10.1038/s41591-021-01321-w.
- 10. ClinicalTrials.gov. A Randomized Study of BPN14770 in Male Adolescents (Aged 9 to <18 Years) With Fragile X Syndrome. Identifier: NCT05163808.
- 11. ClinicalTrials.gov. A Randomized, Double-blind, Placebo-controlled, Parallel Group Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome. Identifier: NCT05358886.
- 12. ClinicalTrials.gov. An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome. Identifier: NCT05367960.
- 13. Jordan’s Guardian Angels.org. Accessed January 14, 2025. Available at: https://jordansguardianangels.org/.