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Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data

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Alternative Title
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data
Abstract
Ambroxol hydrochloride is an oral mucolytic drug available over-the-counter for many years as cough medicine. In 2009 it was identified as a pharmacological chaperone for mutant glucocerebrosidase, albeit in a several-fold higher dose. Unfortunately, there have been no pharma-driven clinical trials to establish its use. Thus, real-world observational data are needed on the safety and efficacy of ambroxol for patients with Gaucher disease (GD) and GBA-Parkinson disease (GBA-PD). Clinicians treating patients with ambroxol for GD and GBA-PD were approached to collaborate in an investigator-initiated registry. Anonymized data were collected, including demographics, GD type, GD-specific therapy (when applicable), adverse events (AEs), and, when available, efficacy data. We report the data of the first 41 patients (25 females) at a median (range) age 17 (1.5-74) from 13 centers; 11 with GD type 1(four diagnosed with PD), 27 with neuronopathic GD (nGD), and three GBA mutation carriers with PD. The median (range) treatment period and maximum dose of ambroxol were 19 (1-76) months and 435 (75-1485) mg/day, respectively. One patient with type 2 GD died of her disease. No other severe AEs were reported. Twelve patients experienced AE, including minor bowel discomfort, cough, allergic reaction, mild proteinuria, dizziness and disease progression. Clinical benefits were reported in 25 patients, including stable or improved neurological status, increased physical activity, and reduced fatigue. Until the approval of specific therapies for nGD and disease-modification for GBA-PD, these preliminary data may be encouraging to physicians and patients who consider an off-label use of ambroxol.
Author(s)
이범희Agata FiumaraAlicia ChanAri ZimranBarbara RubioBeata Kiec-WilkChia-Feng YangDaniela Castillo-GarciaMagdalena Ceron-RodriguezMajdolen IstaitiMichal Becker-CohenPredrag RodicRadka Stefanova TinchevaShoshana Revel-VilkTama DinurUma RamaswamiWalla Al-Hertani
Issued Date
2021
Type
Article
Keyword
AdolescentAdultAdverse eventsAgedAmbroxol - adverse effectsAmbroxol - pharmacologyAmbroxol - therapeutic useBiological AvailabilityBlood-Brain BarrierChildChildPreschoolClinical trialsCombined Modality TherapyCoughDemographyDevelopment and progressionEnzyme Replacement TherapyFemaleGaucher Disease - drug therapyGaucher's diseaseGlucosylceramidaseGlucosylceramidase - deficiencyGlucosylceramidase - geneticsGlucosylceramidase - metabolismGlucosylceramidase - therapeutic useHumansHypersensitivityInfantIntestineMaleMiddle AgedMovement disordersNeurodegenerative diseasesOff-Label UseParkinson Disease - drug therapyParkinson Disease - geneticsParkinson's diseaseParkinsons diseasePatientsPhysical activityProtein Stability - drug effectsProteinuriaRegistriesRespiratory agentsUsageYoung Adult
DOI
10.1002/ajh.26131
URI
https://oak.ulsan.ac.kr/handle/2021.oak/7590
https://ulsan-primo.hosted.exlibrisgroup.com/primo-explore/fulldisplay?docid=TN_cdi_proquest_miscellaneous_2491939571&context=PC&vid=ULSAN&lang=ko_KR&search_scope=default_scope&adaptor=primo_central_multiple_fe&tab=default_tab&query=any,contains,Upgrading%20the%20evidence%20for%20the%20use%20of%20ambroxol%20in%20Gaucher%20disease%20and%20GBA%20related%20Parkinson:%20Investigator%20initiated%20registry%20based%20on%20real%20life%20data&offset=0&pcAvailability=true
Publisher
AMERICAN JOURNAL OF HEMATOLOGY
Location
미국
Language
영어
ISSN
0361-8609
Citation Volume
96
Citation Number
5
Citation Start Page
545
Citation End Page
551
Appears in Collections:
Medicine > Medicine
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