10 Participants Needed

Ambroxol for Sanfilippo Syndrome

AA
LN
Overseen ByLauren Noll
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)
Prior Safety DataThis treatment has passed at least one previous human trial

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores the safety and effectiveness of Ambroxol Hydrochloride for treating adults with Sanfilippo syndrome, a rare genetic disorder affecting the brain and body. It tests various doses of Ambroxol to determine the optimal balance between safety and benefits. Ideal participants have a confirmed diagnosis of Sanfilippo syndrome and can take oral medication. As a Phase 2, Phase 3 trial, this research evaluates the treatment's effectiveness in a smaller group and represents the final step before FDA approval, offering participants the opportunity to contribute to a potentially groundbreaking therapy.

Will I have to stop taking my current medications?

The trial requires that you stop taking medications that are strong inducers or inhibitors of CYP3A, as well as genistein or Miglustat, before starting the trial. If you are on these medications, you may need to switch to alternatives that do not interfere with the trial.

Is there any evidence suggesting that this trial's treatments are likely to be safe?

Research has shown that Ambroxol is generally safe and well-tolerated. It often treats breathing problems in both adults and children, with most side effects being mild. Studies have demonstrated that Ambroxol can be safely used at high doses, and trials have confirmed its safety. This suggests that Ambroxol is likely safe for treating Sanfilippo syndrome, although researchers are still studying the effects of higher doses for this specific condition.12345

Why do researchers think this study treatment might be promising for Sanfilippo syndrome?

Researchers are excited about using Ambroxol Hydrochloride for Sanfilippo Syndrome because it introduces a novel approach to treating this rare genetic disorder. Unlike existing treatments that primarily focus on managing symptoms, Ambroxol Hydrochloride acts on cellular pathways to enhance lysosomal function, potentially addressing the root cause of the disease. This drug is being tested at different doses, which could lead to a more personalized treatment strategy and improved outcomes for patients. The excitement stems from the possibility that this treatment could significantly alter disease progression, offering new hope for families affected by Sanfilippo Syndrome.

What evidence suggests that Ambroxol Hydrochloride might be an effective treatment for Sanfilippo Syndrome?

Research suggests that Ambroxol Hydrochloride might help people with Sanfilippo syndrome. Animal studies have shown that Ambroxol could reduce the buildup of harmful substances in cells, a major issue in Sanfilippo syndrome. These early findings indicate that Ambroxol might improve cellular function and possibly slow disease progression. Previous patients have generally tolerated Ambroxol well, which is encouraging for its use in treating this condition. Although more research is needed in humans, Ambroxol offers hope as a potential treatment for Sanfilippo syndrome. Participants in this trial will receive different dosages of Ambroxol Hydrochloride to evaluate its effectiveness and safety.14567

Who Is on the Research Team?

Ozlem Goker-Alpan, MD

Ozlem Goker-Alpan, MD

Principal Investigator

Lysosomal & Rare Disorders Research & Treatment Center, Inc.

Are You a Good Fit for This Trial?

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.

Inclusion Criteria

My genetic test shows specific mutations in SGSH, NAGLU, HGSNAT, or GNS genes.
IRB-approved informed consent/assent signed by subject and/or parent(s) or legal guardian(s)
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)
See 4 more

Exclusion Criteria

I am able to participate in all required study activities.
I do not have any serious or long-term illnesses, including major heart or severe lung conditions.
I have had more than one seizure a day for the last 6 months.
See 8 more

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

4 weeks
1 visit (in-person)

Treatment

Participants receive Ambroxol with dose escalation over 52 weeks, including regular assessments and safety monitoring

52 weeks
Multiple visits (in-person and virtual)

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks
1 visit (in-person)

What Are the Treatments Tested in This Trial?

Interventions

  • Ambroxol Hydrochloride
Trial Overview 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.
How Is the Trial Designed?
3Treatment groups
Experimental Treatment
Group I: Ambroxol Hydrochloride 30mg - 9mg/kg/dayExperimental Treatment1 Intervention
Group II: Ambroxol Hydrochloride 30mg - 27mg/kg/dayExperimental Treatment1 Intervention
Group III: Ambroxol Hydrochloride 30mg - 18mg/kg/dayExperimental Treatment1 Intervention

Find a Clinic Near You

Who Is Running the Clinical Trial?

Ozlem Goker-Alpan

Lead Sponsor

Trials
1
Recruited
10+

Team Sanfilippo

Collaborator

Trials
2
Recruited
20+

Citations

An Open Label Dose Escalation Study to Assess the Safety ...A dose escalation study to evaluate the safety, tolerability, and pharmacologic properties of Ambroxol in adult participants with Sanfilippo disease(s) (MPS3).
Clinical Studies in Sanfilippo syndromesThis study is a first in human clinical trial to explore the safety, tolerability and clinical efficacy of ex vivo gene therapy (autologous ...
An Open Label Dose Escalation Study to Assess the Safety ...A dose escalation study to evaluate the safety, tolerability, and pharmacologic properties of Ambroxol in adult participants with Sanfilippo ...
Effects of oral Ambroxol on neuropathologicalThese animal models provide invaluable data to researchers studying Sanfilippo B syndrome and exploring potential treatments. Pathology of MPS IIIB.
Ambroxol for Sanfilippo SyndromeThis Phase 2 & 3 medical study run by Ozlem Goker-Alpan is evaluating whether Ambroxol Hydrochloride will have tolerable side effects & efficacy for ...
Ambroxol Hydrochloride | MPS IIIA, IIIB, IIIC, IIID | Phase II-IIIAn open label dose escalation study to assess the safety, tolerability, and pharmacologic properties of high dose Ambroxol Hydrochloride in adult (≥ 18 years ...
An Open Label Dose Escalation Study to Assess the Safety ...A dose escalation study to evaluate the safety, tolerability, and pharmacologic properties of Ambroxol in adult participants with Sanfilippo disease(s) (MPS3).
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