A dose escalation study to evaluate the safety, tolerability, and pharmacologic properties of Ambroxol in adult participants with Sanfilippo disease(s) (MPS3).
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).
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.
Ozlem Goker-Alpan
Lead sponsor
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Sponsor institution
Team Sanfilippo
Collaborator