Study of Increasing Doses of Ambroxol Hydrochloride to Test Safety and Effects in Adults with Sanfilippo Syndrome MPS III

What this Trial Is About

Researchers are evaluating Ambroxol, a drug given in increasing doses, for adult patients with Sanfilippo disease MPS III. This dose escalation study aims to assess the safety, tolerability, and how the drug behaves in the body over time. The study includes adults aged 18 and older with genetically confirmed MPS III, focusing on important health measures and disease symptoms. Participants will receive Ambroxol orally, either mixed with soft foods or through a feeding tube if needed. The treatment starts with a dose of 9 mgkgday divided into three doses, escalating to 18 mgkgday and then 27 mgkgday at weeks 12 and 24. Each dose increase is followed by assessments including blood and urine tests, heart monitoring, motor skills evaluations, hearing tests, questionnaires, and safety checks conducted both in person and via telemedicine. During the approximately one-year treatment period, participants will undergo multiple visits for health evaluations and drug monitoring. After treatment ends at week 52, a safety follow-up visit occurs four weeks later. Researchers will closely track safety and tolerability, motor function, quality of life, and how Ambroxol is processed in the body. This comprehensive monitoring helps understand the drugs effects and any side effects in adults with MPS III.

An Open Label Dose Escalation Study to Assess the Safety, Tolerability, and Pharmacologic Properties of High Dose Ambroxol Hydrochloride in Adult (≥ 18 Years of Age) Subjects With MPS III