NCT06614894

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

• Status: Recruiting
• Phase: Phase 2 / Phase 3
• Study type: Interventional
• Enrollment: 10 (estimated)
• Sponsor: Ozlem Goker-Alpan · Academic / Other
• Sex: All
• Age: 18 Years – 99 Years
• Healthy volunteers: Not accepted

Summary

A dose escalation study to evaluate the safety, tolerability, and pharmacologic properties of Ambroxol in adult participants with Sanfilippo disease(s) (MPS3).

Detailed description

This is a dose escalation study in which open label Ambroxol 30mg (study drug) will be administered to adult patients with Sanfilippo Disease (MPS3). Administration route of study drug will be either crushed and mixed with soft foods or as an Ambroxol suspension through a feeding tube, if applicable. Study Timeline - Screening: 4 weeks (28 days) Treatment Period: 52 weeks Post-Treatment (after Week 52): 4 weeks withdrawal/safety follow-up period Patients will be screened at which point a thorough review of the Informed Consent form will be completed, sNFL levels, urinary GAGs, and serum HS results/data from the previous 12 months will be reviewed, urine and blood will be collected, complete questionnaires, Motor skills assessments, and evaluation by the Principal Investigator (PI). Eligible patients will proceed to receive the initial Ambroxol dose of 9mg/kg/day (maximum dose of 150 mg TID) divided into three equal doses per day, on-site. Other assessments including blood and urine collection, ECG, motor skills assessments, hearing test, questionnaires, and evaluation by the PI will be completed. Following the first day of dosing, a virtual visit will be performed via Telemedicine within 1 week of dose start to assess safety. At Weeks 12 and 24, enrolled patients will return to site for Ambroxol dose escalation to 18mg/kg/day (max dose of 300 mg TID) and 27mg/kg/day (max dose of 1350 mg/day), respectively. Assessments including blood and urine collection, ECG, motor skills assessments, hearing test, questionnaires, and evaluation by the PI will be completed at these visits. Telemedicine visits will take place at Weeks 13 and 25, to assess safety. At Week 36, a safety visit will be performed in which blood and urine will be collected. At Week 52, end of study assessments will be completed which includes blood and urine collection, motor skills assessments, hearing test questionnaires, and evaluation by the PI will be conducted and treatment will be stopped. A safety follow-up visit will be done 4 weeks after Week 52 visit is completed in which the patient will be evaluated by the PI.

Conditions

• Sanfilippo Syndrome
• MPS3

Interventions

Type	Name	Description
DRUG	Ambroxol Hydrochloride 30 mg tablet - 9 mg/kg/day	Ambroxol Hydrochloride 30 mg oral pill/tablet - 9 mg/kg/day
DRUG	Ambroxol Hydrochloride 30 mg tablet - 18 mg/kg/day	Ambroxol Hydrochloride 30 mg oral pill/tablet - 18 mg/kg/day
DRUG	Ambroxol Hydrochloride 30 mg tablet - 27 mg/kg/day	Ambroxol Hydrochloride 30 mg oral pill/tablet - 27 mg/kg/day

Timeline

• Start date: 2024-12-01
• Primary completion: 2026-05-01
• Completion: 2026-06-30
• First posted: 2024-09-26
• Last updated: 2025-08-20

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study