The Research Rundown: 10 Key Updates You Need to Know 1. Three Clinical Trials and Counting Since 2023, we’ve launched three clinical trials: one with Neuren Pharmaceuticals targeting BDNF enhancement, and two at Arizona State University exploring Microbiota Transfer Therapy. 2. Gene Therapy is Coming Mahzi Therapeutics has licensed our UCSD gene therapy work and is on track to file an IND this summer, with a first-in-human trial planned for late 2025 or early 2026. 3. Repurposing Old Drugs for New Hope Unravel Therapeutics is preparing a clinical study in Medellín, Colombia using a repurposed drug for Pitt Hopkins syndrome, supported by Colombia’s fast-track orphan disease program. 4. Expanding Our Clinical Network We are growing a powerful network of clinical partners. The Neuren trial included five sites—Colorado Children’s, UAB, Chicago Rush, and more—while Mahzi has already begun identifying its own trial sites. 5. Building Smarter with Data To prepare for Mahzi’s trial (as well as other future trials), we’ve partnered with Citizen Health to collect and analyze medical records. So far, ~60 families have contributed to this crucial data initiative. Pitt families, Please join here https://www.citizen.health/?blm_aid=15455 6. Join Our Registry Our patient registry with Sanford is growing steadily. If you haven't already, please join—it’s one of the most important ways to accelerate research and access future trials. Pitt Families, Please join here: https://pitthopkins.org/research/how-to-get-involved-in-research-today/family-registry/?blm_aid=15455 7. Biomarker Discovery is Underway We recently collected over 30 blood and stool samples for analysis by Metabolon, a leader in metabolomics. The study is complete and now under review. https://www.metabolon.com/?blm_aid=15455 8. New Mouse Models in Development Beyond our original heterozygous knockout mice, two new models are now in development: a humanized model at Jackson Labs and a second from the Philpot Lab. 9. Exploring ASO Therapy We’ve been funding early ASO (antisense oligonucleotide) development at La Jolla Labs. Initial data is promising, and we’ll soon begin testing in organoids at the Muotri Lab. 10. Every Step Brings Us Closer Each of these efforts—clinical trials, gene therapy, patient data, biomarkers, and new models—moves us closer to effective treatments and, ultimately, a cure. (fb)

📅Mark your calendars! The 2026 Pitt Hopkins Family Conference is going VIRTUAL! More access, more connection—same heart & hope. Join us for panels, research updates, support sessions & more—all online! https://t.co/2Nms7RWCsI #PittHopkins #FamilyConference2026 https://t.co/RP6Wa4F7qu (tw)