We are thrilled to share the promising gene editing treatment of a baby with CPS1 deficiency by a team at Children's Hospital of Philadelphia led by Dr. Kiran Musunuru. Thank you to KJ's family for leading the way.

It is remarkable to witness the emergence of such treatments, made possible by the collaborative efforts of academia, industry, and the FDA, building on decades of federally funded research.

"The recent first-in-human use of in vivo gene editing in an infant with neonatal-onset carbamoyl phosphate synthetase I (CPS1) deficiency marks a groundbreaking milestone for this rare and devastating urea cycle disorder, typically fatal without a liver transplant,” says NUCDF Medical Advisory Board member Dr. Andrea Gropman. “This achievement underscores the transformative potential of CRISPR-based therapies. We eagerly anticipate the results of long-term follow-up."

Stay tuned to NUCDF for more analysis and insight on this evolving story

NUCDF is closely monitoring the transition to generic glycerol phenylbutyrate. Families should receive communication from Amgen this week that will include valuable resources. NUCDF is committed to helping our patient community through this transition and will be available to assist. Just email info@nucdf.org if needed. For important updates, we invite you to visit the Industry Update link below. 

The 6th International Symposium on Urea Cycle Disorders (UCD), “Advancements in Understanding: Global Perspectives and Innovations in Urea Cycle Disorders” is a satellite meeting to the International Congress of Inborn Errors of Metabolism (ICIEM).