The U.S. Food and Drug Administration (FDA) has approved the Investigational New Drug application (IND) for SPG601 for the treatment of Fragile X Syndrome (FXS).
Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. FXS is caused by a large number of CGG repeats in the FMR1 gene leading to a significant reduction in FMRP protein. The severity of the case appears to depend on the number of expanded CGG.This can cause a range of developmental problems including learning disabilities and cognitive impairment. Other signs and symptoms may include symptoms of autism spectrum disorders, seizures, and characteristic physical features.
Females have milder phenotypic presentation and the benefit of an additional X chromosome that is unaffected.
The IND approval opens the door to a Phase 2a clinical trial testing SPG601 in adult males with FXS. SPG601 is a small molecule calcium-activated potassium (BK) channel activator that restores synaptic functions. Deficient ion channel activity in synapses has been linked to many symptoms associated with FXS.
To learn more about rare endocrine disorders, visit https://checkrare.com/diseases/endocrine-disorders/
References
Stone WL, et al. Fragile X syndrome. [Updated 2023 Oct 28]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK459243/
Deng P-Y, Kiyachko VA. channelopathies in fragile X syndrome. Nat Rev Neurosci. 2021;22:275-289. doi: 10.1038/s41583-021-00445-9
