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

Effectiveness of ambroxol in children and adults with Gaucher disease 3: n-of-1 series - ATTACK-GD3

Status

Recruiting

Phases

Phase 3

Study type

Interventional

Source

NL-OMON

Registry ID

NL-OMON51936

Enrollment

Registered

2022-12-06

Start date

2024-09-16

Completion date

Unknown

Last updated

2025-08-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Gaucher disease: a lysosomal storage disease metabolic disorder

Interventions

Each patient receives multiple blocks consisting of three time daily ambroxol (25 mg/kg/day) alternated with placebo and washout periods.

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

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) 3) Male and female patients > 2 years of age; 4) Able to travel to the study site; 5) Patients receive ERT with treatment ongoing at the time of enrollment;

Exclusion criteria

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.

Design outcomes

Secondary

Measure	Time frame
• Lyso-GL1, GL-1, chitotriosidase and Lyso-GM3 in plasma • GL-1 and Lyso-GM3 in CSF • GCase activity in leukocytes • Goal Attainment Scaling (GAS) • Quality of Life (PedsQL) • Assessment and rating of ataxia (SARA) • Neuropsychological assessment (ANT/Wechsler scale) • Behavioural assessment (SDQ/SWAN) • If epilepsy: seizure control (UMRS, seizure log book)	—

Primary

Measure	Time frame
Lyso-GL1 in CSF	—

Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)