APBD Research Foundation
Cycle 1
Adult Polyglucosan Body Disease (APBD) is a genetic disorder that results in the low activity of an important enzyme, Glycogen Branching Enzyme (GBE1), which is used to make glycogen. When there is low activity of this enzyme, newly formed glycogen is manufactured incorrectly into long strands called polyglucosan bodies. These polyglucosan bodies cannot be used for fuel and build up inside nerve cells. This causes damage to these nerves. The damage often results in numbness, and eventually weakness in the muscles controlled by these nerves.
Last updated May 2024
Clinical
Disease Class
Rare genetic diseases
Rare inborn errors of metabolism
Rare neurological diseases
Body Systems
Digestive
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Organs
Bladder
Brain
Eyes
Heart
Intestines
Nerves
Genes
GBE1
Type of Inheritance
Autosomal recessive
Disease Mechanism(s)
Glycogen pathway dysregulation
Glycogen storage disease
Age of Onset
Adulthood (age 18-64)
Incidence
Unknown
Prevalence
1001-10000
Populations and/or ancestry with higher prevalence
Ashkenazi Jews
Symptoms / Phenotypes
balance problems
cognitive decline
dementia
fatigue
gait abnormalities / gait disturbance
muscle stiffness
muscle weakness
neurogenic bladder
orthostatic hypotension
paralysis
peripheral neuropathy
sexual dysfunction
spasticity
thermal dysregulation
vision problems
Biomarkers
Diagnostic
· 40 pathogenic mutations of the GBE1 gene have been identified
Existing Therapies
None
Organizational & Research
Cell Lines
Fibroblasts
Lymphoblasts
Cell Lines, location
Not specified
Cell Lines, share
No
Disease Model
Mouse
Disease Model, location
Baylor College of Medicine
NY Presbyterian-Columbia
Disease Model, share
Yes
Clinical Trial Role
Recruitment and outreach, patients
Biobank
NY Presbyterian-Columbia
Center of Excellence
None
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Patient contact info
Patient-reported data
Data Entered by, Registry
Both
Platform, Registry
REDCap
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Electronic health records/electronic medical records
Genetic data
Imaging data
Patient-reported data
Retrospective data
Platform, Natural History Study
REDCap
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
We use an ICD-10 code capturing the family of diseases to which our disease belongs
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
Yes
Organizational Roles
Executive Director
Science Advisory Board Policies
No policies
Research Network Policies
Has CRN but no policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Middle East