Paul Harmatz, MD, on Assessing D2S6 in Trials for MPS Type 2

“Neurocognitive testing is looking quite promising, especially in children that are less than minus 2 standard deviations from normal level. The younger we’re able to treat patients when they are still functioning above the minus 2 standard deviation, it looks like we can get new skill attainment and positive benefits. When you're below that level, the hope is that we'll stabilize the disease, we may see some improvement, but not see worsening of the disease status.”

Image-guided injection of RGX-121 gene therapy (REGENXBIO) to the cisterna magna yielded dose-dependent reductions in cerebrospinal fluid glycosaminoglycans including D2S6 in participants with neuronopathic mucopolysaccharidosis type 2 (MPS2) treated in the phase 1/2 CAMPSIITE trial (NCT03566043).A phase 3 study is now enrolling.

Updated data from CAMPSIITE were presented by Paul Harmatz, MD, pediatric gastroenterologist and professor in residence, University of California at San Francisco, at the American Society of Gene and Cell Therapy (ASGCT) 2023 Annual Meeting, held May 16-20, in Los Angeles, California. CGTLive spoke with Harmatz to learn more about the findings in the trial, including results from biomarker analyses. He discussed positive findings with neurocognitive testing and D2S6 in treated patients. He explained the importance of the D2S6 marker and why it can be more valuable to look at than heparin sulfate. He shared his belief that D2S6 is the most valuable marker to look at in trials assessing therapies for treating MPS2.

REFERENCE

Harmatz P, Ficicioglu C, Giugliani R, et al. RGX-121 gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II): Interim analysis of data from the first in human study. Presented at: ASGCT 2023 Annual Meeting; May 16-20; Los Angeles, California. Poster #807