Actively Recruiting
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
Led by Ozlem Goker-Alpan · Updated on 2025-08-20
10
Participants Needed
1
Research Sites
8 weeks
Total Duration
On this page
Sponsors
O
Ozlem Goker-Alpan
Lead Sponsor
T
Team Sanfilippo
Collaborating Sponsor
AI-Summary
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 mg/kg/day divided into three doses, escalating to 18 mg/kg/day and then 27 mg/kg/day 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 drug's effects and any side effects in adults with MPS III.
CONDITIONS
Brief Title
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
Who Can Participate
Eligibility Criteria
You may qualify if you...
- IRB-approved informed consent/assent signed by subject and/or parent(s) or legal guardian(s).
- Genetically confirmed diagnosis of MPS III disease.
- Genomic DNA analysis showing pathogenic variants in SGSH, NAGLU, HGSNAT, or GNS genes (types A-D).
- Elevated urinary GAGs and/or serum HS levels, or screening values if no prior data.
- Male or female, aged 18 years or older, able to take Ambroxol orally.
- Negative urine pregnancy test for females of child-bearing potential.
- Willing to avoid grapefruit and related products for 72 hours before first dose and during treatment.
You will not qualify if you...
- Unwilling or unable to follow study protocol.
- Serious or chronic medical illnesses, including significant heart or severe lung disease.
- Poorly controlled seizures (more than one per day in past 6 months).
- Use of medications that strongly affect CYP3A enzyme and cannot be safely changed.
- Any condition making the subject unsuitable for the study per investigator.
- Inability to cooperate with clinical and safety data collection.
- Known allergy to Ambroxol or its ingredients.
- Use of genistein or Miglustat within one week before screening.
- Evidence of hepatitis B or C infection at screening.
- Participation in another clinical trial within 2 weeks before screening.
- Use of strong CYP3A inducers or inhibitors, or grapefruit products within specified timeframes before starting Ambroxol.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 52 weeks
Participants receive escalating doses of Ambroxol Hydrochloride over 52 weeks with regular assessments to monitor safety, tolerability, and motor skills.
In-person visits at baseline, Weeks 12, 24, 36, and 52; Telemedicine visits at Weeks 1, 13, and 25
Duration - 4 weeks
Participants are monitored for safety during a 4-week period after stopping treatment.
1 visit (in-person)
Trial Site Locations
Total: 1 location
1
Lysosomal & Rare Disorders Research & Treatment Center, Inc.
Fairfax, Virginia, United States, 22030
Actively Recruiting
Research Team
A
Arooj Agha
L
Lauren Noll
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
SEQUENTIAL
Primary Purpose
TREATMENT
Number of Arms
3
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