AMBROXOL HYDROCHLORIDE, CLENBUTEROL HYDROCHLORIDE for Gaucher disease type 3

Inclusion criteria

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

Exclusion criteria

• {"criterion_text":"- The patient is transfusion dependent\n- The patient has received an investigational product within 30 days prior to enrollment\n- Known hypersensitivity reactions, intolerance or adverse reactions to ambroxol or to the inactive ingredients\n- Pregnancy, because there are no sufficient data for the use of ambroxol in pregnant women (see Summary of Product Characteristics (SPC))\n- 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)\n- The patient is unwilling or, in the investigator's opinion, unable to adhere to the requirements of the study\n- The patient is unable to swallow powder and has no other enteral access (e.g. gastrostomy)\n- Any condition or abnormality which may, in the opinion of the investigator, compromise the safety of patients"}

Primary endpoints

• {"endpoint_text":"- Change in cerebrospinal fluid (CSF) Lyso-GL1, from GD3 patients receiving ambroxol","definition_or_measurement_approach":""}

Secondary endpoints

• {"endpoint_text":"- Change in plasma Lyso-GL1, GL-1, chitotriosidase and Lyso-GM3, from GD3 patients receiving ambroxol\n- Change in CSF GL-1 and Lyso-GM3, from GD3 patients receiving ambroxol\n- Change in GCase activity in leukocytes, from GD3 patients receiving ambroxol\n- Effect of ambroxol on functional/developmental outcomes using the Goal Attainment Scaling (GAS) in GD3 patients\n- Effect of ambroxol on quality of life using the Pediatric Quality of Life Inventory (PedsQL) in GD3 patients\n- Effect of ambroxol on ataxia using the Scale for the Assessment and Rating of Ataxia (SARA) in GD3 patients\n- Effect of ambroxol on neuropsychological outcomes using the Attention Network Task (ANT) and/or Wechsler scale in GD3 patients\n- If epilepsy: effect of ambroxol on seizure control using the Unified Myoclonus Rating Scale (UMRS) and a seizure log book in GD3 patients","definition_or_measurement_approach":"Biochemical endpoints: measurement of plasma Lyso-GL1, GL-1, chitotriosidase and Lyso-GM3; CSF measurements for GL-1 and Lyso-GM3. GCase activity measured in leukocytes. Functional/developmental outcome measured using Goal Attainment Scaling (GAS). Quality of life measured using the Pediatric Quality of Life Inventory (PedsQL). Ataxia measured using SARA. Neuropsychological outcomes measured using the Attention Network Task (ANT) and/or Wechsler scale. Seizure control measured using the Unified Myoclonus Rating Scale (UMRS) and a seizure log book (for patients with epilepsy)."}

Netherlands

Earliest CTIS Part Ii Submission Date

15-11-2024

Latest Decision Or Authorization Date

25-11-2024

Processing Time Days

10

Number Of Sites

1

Number Of Participants

4

Primary sponsor

Full Name

Amsterdam UMC Stichting

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

Netherlands

Third parties

• {"country":"","full_name":"MetaKids","duties_or_roles":"Monetary support","organisation_type":""}
• {"country":"","full_name":"Vriendenloterij","duties_or_roles":"Monetary support","organisation_type":""}