Ambroxol in Gaucher disease 3: n-of-1 series

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 4

Inclusion Criteria

1) The patient or the parent(s)/legal guardian(s) must provide written informed consent before start of the study
2) Male and female patients with documented deficiency of GCase activity and GBA genotype fitting GD3
3) All ages
4) Able to travel to the study site
5) Patients receive ERT with treatment ongoing at the time of enrollment
6) There are no sufficient data for the use of ambroxol in pregnant women (see Summary of product characteristics (SPC), section 4.6). This particularly concerns the period up to the 28th week of pregnancy. Postmenarchal female patients must be willing to practice true abstinence in line with their preferred and usual lifestyle, or use a medically accepted form of contraception throughout the study (barrier method such as condom or diaphragm+spermicide or non-barrier method such as oral, injected, or implanted hormonal contraceptive with ethinylestradiol and norethindrone or similar active components

Exclusion Criteria

1) The patient is transfusion dependent
2) The patient has received an investigational product within 30 days prior to enrollment
3) Known hypersensitivity reactions, intolerance or adverse reactions to ambroxol or to the inactive ingredients
4) 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, section 4.6)
5) Pregnancy
6) The patient is unwilling or, in the investigator’s opinion, unable to adhere to the requirements of the study
7) The patient is unable to swallow powder and has no other enteral access (e.g. gastrostomy)
8) Any condition or abnormality which may, in the opinion of the investigator, compromise the safety of patients

Study & Design

Study Type: Interventional

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Change in cerebrospinal fluid (CSF) Lyso-GL1, from GD3 patients receiving ambroxol.

Secondary Outcome Measures

Name	Time	Method
- Change in plasma Lyso-GL1, GL-1, chitotriosidase and Lyso-GM3, from GD3 patients receiving ambroxol;<br>- Change in CSF GL-1 and Lyso-GM3, from GD3 patients receiving ambroxol;<br>- Change in GCase activity in leukocytes, from GD3 patients receiving ambroxol;<br>- Effect of ambroxol on functional/developmental outcomes using the Goal Attainment Scaling (GAS) in GD3 patients;<br>- Effect of ambroxol on quality of life using the Pediatric Quality of Life Inventory (PedsQL) in GD3 patients;<br>- Effect of ambroxol on ataxia using the Scale for the Assessment and Rating of Ataxia (SARA) in GD3 patients;<br>- Effect of ambroxol on neuropsychological outcomes using the Attention Network Task (ANT) and/or Wechsler scale in GD3 patients;<br>- If epilepsy: effect of ambroxol on seizure control using the Unified Myoclonus Rating Scale (UMRS) and a seizure log book in GD3 patients.