Synonyms APBD, APBN, Adult Polyglucosan Body Disease + [10] |
Introduction A glycogen storage disease of adults with characteristics of progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. The prevalence is unknown. More than 50 cases have been described to date in Ashkenazi (in most cases) and non-Ashkenazi Jewish individuals. Presents after the age of 40, with urinary incontinence (indicative of neurogenic bladder) often being the first manifestation. Caused by a mutation in the GBE1 gene, encoding the glucan (1, 4-alpha-) branching enzyme 1 (GBE). |
Target- |
Mechanism Fatty acid replacements [+1] |
Active Org. |
Originator Org. |
Active Indication |
Inactive Indication |
Drug Highest PhaseApproved |
First Approval Ctry. / Loc. US |
First Approval Date30 Jun 2020 |
Target- |
Mechanism Gene transference |
Originator Org. |
Active Indication |
Inactive Indication- |
Drug Highest PhasePreclinical |
First Approval Ctry. / Loc.- |
First Approval Date20 Jan 1800 |
Target |
Mechanism LAMP-1 inhibitors |
Active Org. |
Originator Org. |
Active Indication |
Inactive Indication- |
Drug Highest PhasePreclinical |
First Approval Ctry. / Loc.- |
First Approval Date20 Jan 1800 |
Start Date01 Dec 2015 |
Sponsor / Collaborator |
Start Date01 Jun 2009 |
Sponsor / Collaborator |