NCT06614894 · Ozlem Goker-Alpan
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
What this study is about
A gradually increasing doses study to evaluate the safety, tolerability, and pharmacologic properties of Ambroxol in adult participants with Sanfilippo disease(s) (MPS3).
View original scientific description
A dose escalation study to evaluate the safety, tolerability, and pharmacologic properties of Ambroxol in adult participants with Sanfilippo disease(s) (MPS3).
Interventions
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
Primary outcome measures
Safety and Tolerability
Time frame: From baseline to 52 weeks
1\. Safety and tolerability as measured by number of Participants with at least one serious and at least one non-serious Treatment Emergent Adverse Events (TEAEs), assessed by CTCAE v4.0.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- 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 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.
- Elevated excretion of urinary GAGs and/or serum HS (if no historical data is available, screening GAGs and serum HS values will be utilized to assess inclusion criteria).
- Male or female; eighteen years of age and older, who is able to take Ambroxol Hydrochloride orally.
- Negative urine pregnancy test at screening for female subjects with child-bearing potential.
- The subject is willing to abstain from consumption of grapefruit, grapefruit juice, or grapefruit containing products for 72 hours prior to administration of the first dose of Ambroxol and for the duration of the treatment period.
Exclusion criteria
- Unwilling or unable to follow protocol requirements as per principal investigator.
- 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.
- Medications identified as a strong inducers or inhibitors of CYP3A, and changing to another alternative drug to treat the condition would place the subject at undue risk.
- Any medical condition that, in the opinion of the PI, would make the subject unsuitable to participate in the study.
- Inability to cooperate for clinical and safety data collection.
- Known hypersensitivity to Ambroxol or any of its excipients.
- Use of genistein or Miglustat within one week of starting screening.
- Evidence of hepatitis B or hepatitis C infection upon serological testing at screening.
- Currently participating in another clinical trial or has completed an interventional trial less than 2 weeks prior to screening visit.
- The subject has received strong inducers (Note: eg, herbal supplements) or inhibitors of CYP3A within 15 days or 5 half-lives from screening, whichever is longer, prior to enrollment. This also includes the consumption of grapefruit, grapefruit juice, or grapefruit containing products within 72 hours of starting Ambroxol administration.
Where
- Fairfax, Virginia
Collaborators
Team Sanfilippo
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Aug 20, 2025 · Source of record for eligibility and locations