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Mucolytic Agent

Ambroxol for Sanfilippo Syndrome

Phase 2 & 3
Waitlist Available
Led By Ozlem Goker-Alpan, MD
Research Sponsored by Ozlem Goker-Alpan
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Genetically confirmed diagnosis of MPS III disease
Genomic DNA analysis demonstrating a homozygous or compound heterozygous pathogenic variants in SGSH (type A), NAGLU (type B), HGSNAT (type C), or GNS (type D) genes. Type E will not be studied
Must not have
Any serious or chronic medical illness, including significant cardiac or severe debilitating pulmonary disease
Poorly controlled seizures, defined as more than one seizure per day for the past 6 months
Timeline
Screening 3 weeks
Treatment Varies
Follow Up from baseline to 52 weeks
Awards & highlights
No Placebo-Only Group

Summary

This trial is testing how safe and well-tolerated Ambroxol is in adults with Sanfilippo disease (MPS3).

Who is the study for?
This trial is for adults with Sanfilippo disease, also known as Mucopolysaccharidosis Type III (MPS III). Participants must be at least 18 years old. Specific inclusion and exclusion criteria are not listed but typically involve health status and history.
What is being tested?
The study tests three different doses of Ambroxol Hydrochloride tablets (9 mg/kg/day, 18 mg/kg/day, and 27 mg/kg/day) to see which dose is safe and works best in adults with MPS III.
What are the potential side effects?
While specific side effects aren't detailed here, common ones may include gastrointestinal symptoms like nausea or diarrhea, headache, dizziness or allergic reactions. The high dosage being tested increases the importance of monitoring these effects.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below
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My condition is genetically confirmed as MPS III.
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My genetic test shows specific mutations in SGSH, NAGLU, HGSNAT, or GNS genes.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:
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I do not have any serious or long-term illnesses, including major heart or severe lung conditions.
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I have had more than one seizure a day for the last 6 months.
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I am on medication that strongly affects drug metabolism and can't safely switch.
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I am able to participate in all required study activities.
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I haven't taken genistein or Miglustat in the week before screening.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~from baseline to 52 weeks
This trial's timeline: 3 weeks for screening, Varies for treatment, and from baseline to 52 weeks for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.
Primary study objectives
Safety and Tolerability
Secondary study objectives
Assessment of Pharmacodynamics of Ambroxol in subjects with MPS III
Assessment of Pharmacokinetics of Ambroxol in subjects with MPS III
Change from baseline in 10-meter walk test
+5 more

Awards & Highlights

No Placebo-Only Group
All patients enrolled in this study will receive some form of active treatment.

Trial Design

3Treatment groups
Experimental Treatment
Group I: Ambroxol Hydrochloride 30mg - 9mg/kg/dayExperimental Treatment1 Intervention
Ambroxol Hydrochloride 30mg Dose escalation: Initial dose of 9mg/kg/day (or max dose 150mg TID)
Group II: Ambroxol Hydrochloride 30mg - 27mg/kg/dayExperimental Treatment1 Intervention
Ambroxol Hydrochloride 30mg Dose escalation: 27mg/kg/day (or max dose 1350mg QD)
Group III: Ambroxol Hydrochloride 30mg - 18mg/kg/dayExperimental Treatment1 Intervention
Ambroxol Hydrochloride 30mg Dose escalation: 18mg/kg/day (or max dose 300mg TID)

Find a Location

Who is running the clinical trial?

Ozlem Goker-AlpanLead Sponsor
Team SanfilippoUNKNOWN
1 Previous Clinical Trials
6 Total Patients Enrolled
1 Trials studying Sanfilippo Syndrome
6 Patients Enrolled for Sanfilippo Syndrome
Ozlem Goker-Alpan, MDPrincipal InvestigatorLysosomal & Rare Disorders Research & Treatment Center, Inc.
9 Previous Clinical Trials
100,370 Total Patients Enrolled
~7 spots leftby Feb 2026
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