Effectiveness of ambroxol in children and adults with Gaucher disease 3: n-of-1 series

Prior treatment

• The patient has received an investigational product within 30 days prior to enrollment

Other illness

• Known hypersensitivity reactions, intolerance or adverse reactions to ambroxol or to the inactive ingredients
• Any condition or abnormality which may, in the opinion of the investigator, compromise the safety of patients

Other

• The patient is transfusion dependent
• Pregnancy, because there are no sufficient data for the use of ambroxol in pregnant women (see Summary of Product Characteristics (SPC))
• The patient is lactating. Ambroxol crosses into the breast milk. As there is no adequate experience in humans to date, ambroxol should not be used in lactation in a study setting (see SPC)
• The patient is unwilling or, in the investigator's opinion, unable to adhere to the requirements of the study
• The patient is unable to swallow powder and has no other enteral access (e.g. gastrostomy)

• The patient or the parent(s) / legal guardian(s) must provide written informed consent before start of the study
• Male and female patients with documented deficiency of GCase activity and GBA genotype fitting GD3
• Male and female patients of all ages
• Able to travel to the study site
• Patients receive ERT with treatment ongoing at the time of enrollment