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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
Author(s) -
Istaiti Majdolen,
RevelVilk Shoshana,
BeckerCohen Michal,
Dinur Tama,
Ramaswami Uma,
CastilloGarcia Daniela,
CeronRodriguez Magdalena,
Chan Alicia,
Rodic Predrag,
Tincheva Radka Stefanova,
AlHertani Walla,
Lee Beom Hee,
Yang ChiaFeng,
KiecWilk Beata,
Fiumara Agata,
Rubio Barbara,
Zimran Ari
Publication year - 2021
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.26131
Subject(s) - medicine , adverse effect , glucocerebrosidase , ambroxol , disease , clinical trial , demographics , pediatrics , anesthesia , demography , sociology
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.