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

Conditions

Gaucher disease type 3

Brief summary

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

Detailed description

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

Related papers

No related papers found yet.

Interventions

DRUGlactose monohydrate

DRUGAMBROXOL

Eligibility

Sex/Gender

All

Age

0 Years to 64 Years

Design outcomes

Primary

Measure	Time frame
Change in cerebrospinal fluid (CSF) Lyso-GL1, from GD3 patients receiving ambroxol	—

Secondary

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

Measure

Time frame

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

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Countries

Netherlands

Outcome results

None listed