Enzyme Replacement and Pharmacological Therapies
GC1130A (GC Biopharma): This recombinant human heparan N-sulfatase is under investigation for MPS IIIA. Administered via intracerebroventricular infusion, GC1130A aims to address central nervous system symptoms by delivering the enzyme directly to the brain.
DNL126 (Denali Therapeutics): Currently in a Phase 1/2 trial, DNL126 is being evaluated for its safety, tolerability, and efficacy in pediatric patients with MPS IIIA. The study includes a 25-week core period followed by a 72-week open-label extension.
JR-446 Enzyme Replacement(Medipal/JCR): Currently in Phase I/II Study of JR-446 in Sanfilippo type B(MPSIIIB). JR-446 is a novel drug developed based on the J-Brian Cargo technology, which has been validated through the approval of IZCARGO for the MPSII treatment in Japan in 2021. This technology fuses the enzyme to a transferrin receptor targeting antibody. These receptors are crucial in blood vessels that supply the brain, and the enzyme. They are combined with the antibody fusion protein that works with the receptor to allow the enzyme to cross the blood-brain barrier.
JR-441 Enzyme replacement (JCR): Currently in Phase I/II for Sanfilippo A (MPSIIIA). JR-441 uses the same J-Brain Cargo technology referenced above.
Autophagy
Exploring Ambroxol as a Potential Treatment for Sanfilippo Syndrome
For parents of children with Sanfilippo Syndrome, this study represents a step toward understanding whether Ambroxol could offer a new therapeutic avenue. While this trial focuses on adults, positive outcomes could pave the way for pediatric studies in the future.
Why This Matters
Sanfilippo Syndrome (MPS III) is a rare genetic disorder that affects the body’s ability to break down certain complex sugars, leading to progressive neurological decline. Currently, there is no approved cure, However, Ambroxol is viewed as a potential treatment for the disease. This clinical trial aims to evaluate the safety and pharmacological properties of high-dose Ambroxol Hydrochloride in adults diagnosed with MPS III. This research aims to determine the safety and tolerability of high-dose Ambroxol in adults with MPS III. This can also assess the pharmacokinetics (how the drug is absorbed, distributed, metabolized, and excreted) and gather preliminary data on its potential therapeutic effects.
Ambroxol is traditionally used as a mucolytic agent to treat respiratory diseases. The recent studies suggest its neuroprotective effects, making it a candidate for treating neurodegenerative disorders like Sanfilippo Syndrome. Participants are adults aged 18 years and older with a confirmed diagnosis of MPS III. They will receive the study drug over a specified period, with regular monitoring for adverse effects and pharmacokinetic assessments.
A Milestone for the Sanfilippo Community
The development of treatments like UX111 and EGT-101 is precisely what Team Sanfilippo Foundation strives to accelerate. These cutting-edge gene therapies promise to address the disease at its root, potentially transforming the lives of children affected by the devastating disease. While research is a journey that requires patience, the progress of these gene therapies is a powerful reminder that dedicated scientists worldwide are tirelessly working towards a future where Sanfilippo Syndrome is no longer a terminal diagnosis.
We will continue to monitor and share updates on this and other promising therapies, as every step forward brings us closer to a cure for all children diagnosed with Sanfilippo Syndrome.
