Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.
Adolescent
Adult
Aged
Ambroxol
/ adverse effects
Biological Availability
Blood-Brain Barrier
Child
Child, Preschool
Combined Modality Therapy
Enzyme Replacement Therapy
Female
Gaucher Disease
/ drug therapy
Glucosylceramidase
/ deficiency
Humans
Infant
Male
Middle Aged
Off-Label Use
Parkinson Disease
/ drug therapy
Protein Stability
/ drug effects
Registries
Young Adult
Journal
American journal of hematology
ISSN: 1096-8652
Titre abrégé: Am J Hematol
Pays: United States
ID NLM: 7610369
Informations de publication
Date de publication:
01 05 2021
01 05 2021
Historique:
received:
09
02
2021
accepted:
10
02
2021
pubmed:
20
2
2021
medline:
14
5
2021
entrez:
19
2
2021
Statut:
ppublish
Résumé
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.
Substances chimiques
Ambroxol
200168S0CL
Glucosylceramidase
EC 3.2.1.45
Types de publication
Journal Article
Observational Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
545-551Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
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