Paul Harmatz, MD, on Harnessing Accelerated Approval for LSDs, Rare Disease Treatment Advancements

Commentary
Video

The pediatric gastroenterologist and professor in residence at University of California at San Francisco discussed challenges in investigating therapies for rare diseases.

“It's a very difficult area for FDA for investigators for sponsors, and most of all, for the families and their kids are rapidly changing and going downhill... It’s very hard to to convince the investment world with all of these challenges, to stay with these drugs and try to move through [the approval process]. Hopefully, the use of a biomarker will encourage them. [The CAMPSIITE] study alone going forward will be a really tremendous breakthrough. It'll be the first neuropathic MPS [therapy] that reaches [an approval decision].”

Rare Disease Day, held on February 29, 2024, is dedicated to raising awareness and understanding for the millions of patients who live with rare disorders worldwide. The event aims to highlight patient voices and advocate for increased research and support to better manage and treat rare diseases.

CGTLive® spoke with Paul Harmatz, MD, pediatric gastroenterologist and professor in residence at University of California at San Francisco, about his work with investigating therapies for rare diseases, namely lysosomal storage diseases and mucopolysaccharidosis, and the value of the accelerated approval pathway to encourage drug development for rare diseases.

Harmatz serves as an investigator on REGENXBIO’s pivotal phase 1/2/3 CAMPSIITE clinical trial (NCT03566043) assessing RGX-121 in patients with severe neuronopathic central nervous disease in MPS type 2 (MPSII), also known as Hunter syndrome. The trial recently met its primary endpoint of reducing cerebrospinal fluid (CSF) levels of D2S6 compared with baseline (P = .00016) and seems set to be the first therapy for MPS to receive a regulatory decision.

REFERENCE
Harmatz P, Ficicioglu C, Giugliani R, et al. CAMPSIITE™ phase I/II/III: An interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II). Presented at: 2024 WORLDSymposium; February 4-9; San Diego, California. Abstract #135
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