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

Conditions

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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

Official 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

Quick Facts

Study Start:2024-12-01

Study Completion:2026-06-30

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT06614894

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:18 Years to 99 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion Criteria
1. IRB - approved informed consent/assent signed by subject and/or parent(s) or legal guardian(s). 2. Genetically confirmed diagnosis of MPS III disease. 3. 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. 4. 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). 5. Male or female; eighteen years of age and older, who is able to take Ambroxol Hydrochloride orally. 6. Negative urine pregnancy test at screening for female subjects with child-bearing potential. 7. 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.	1. Unwilling or unable to follow protocol requirements as per principal investigator. 2. Any serious or chronic medical illness, including significant cardiac or severe debilitating pulmonary disease. 3. Poorly controlled seizures, defined as more than one seizure per day for the past 6 months. 4. 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. 5. Any medical condition that, in the opinion of the PI, would make the subject unsuitable to participate in the study. 6. Inability to cooperate for clinical and safety data collection. 7. Known hypersensitivity to Ambroxol or any of its excipients. 8. Use of genistein or Miglustat within one week of starting screening. 9. Evidence of hepatitis B or hepatitis C infection upon serological testing at screening. 10. Currently participating in another clinical trial or has completed an interventional trial less than 2 weeks prior to screening visit. 11. 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.

Inclusion Criteria

Exclusion Criteria

1. IRB - approved informed consent/assent signed by subject and/or parent(s) or legal guardian(s).
2. Genetically confirmed diagnosis of MPS III disease.
3. 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.
4. 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).
5. Male or female; eighteen years of age and older, who is able to take Ambroxol Hydrochloride orally.
6. Negative urine pregnancy test at screening for female subjects with child-bearing potential.
7. 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.

1. Unwilling or unable to follow protocol requirements as per principal investigator.
2. Any serious or chronic medical illness, including significant cardiac or severe debilitating pulmonary disease.
3. Poorly controlled seizures, defined as more than one seizure per day for the past 6 months.
4. 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.
5. Any medical condition that, in the opinion of the PI, would make the subject unsuitable to participate in the study.
6. Inability to cooperate for clinical and safety data collection.
7. Known hypersensitivity to Ambroxol or any of its excipients.
8. Use of genistein or Miglustat within one week of starting screening.
9. Evidence of hepatitis B or hepatitis C infection upon serological testing at screening.
10. Currently participating in another clinical trial or has completed an interventional trial less than 2 weeks prior to screening visit.
11. 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.

Contacts and Locations

Study Contact

Arooj Agha

CONTACT

571-732-4575

aagha@ldrtc.org

Lauren Noll

CONTACT

571-732-4655

lnoll@ldrtc.org

Principal Investigator

Ozlem Goker-Alpan, MD

PRINCIPAL_INVESTIGATOR

Lysosomal & Rare Disorders Research & Treatment Center, Inc.

Study Locations (Sites)

Lysosomal & Rare Disorders Research & Treatment Center, Inc.

Fairfax, Virginia, 22030

United States

Collaborators and Investigators

Sponsor: Ozlem Goker-Alpan

Ozlem Goker-Alpan, MD, PRINCIPAL_INVESTIGATOR, Lysosomal & Rare Disorders Research & Treatment Center, Inc.

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2024-12-01

Study Completion Date2026-06-30

Study Record Updates

Study Start Date2024-12-01

Study Completion Date2026-06-30

Terms related to this study

Additional Relevant MeSH Terms

Sanfilippo Syndrome
MPS3