Effectiveness of ambroxol for treating children and adults with Gaucher disease type 3

Phase 1

• Conditions: Gaucher disease type 3; MedDRA version: 20.0Level: HLGTClassification code 10027424Term: Metabolic and nutritional disorders congenitalSystem Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

• Registration Number: EUCTR2021-002550-82-NL
• Lead Sponsor: Amsterdam UMC

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2022-07-30
• Last Update Posted: 9 January 2023

Recruitment & Eligibility

• Status: Authorised-recruitment may be ongoing or finished
• Sex: All
• 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)Male and female patients of all ages;
4)Able to travel to the study site;
5)Patients receive ERT with treatment ongoing at the time of enrollment;

Are the trial subjects under 18? yes
Number of subjects for this age range: 6
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 1
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

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)Pregnancy, because there are no sufficient data for the use of ambroxol in pregnant women (see Summary of Product Characteristics (SPC));
5)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);
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 clinical trial of medicinal product
• Study Design: Not specified