Hope for Annabel

Patient-Partnered Collaboration
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Alternating Hemiplegia of Childhood (AHC) is a neurological disorder caused by an ion imbalance in the brain that prevents the correct functioning of neurons.

Last updated May 2024

Clinical
Disease Class
Rare neurological diseases
Body Systems
Cardiovascular / Circulatory
Nervous / Sensory
Organs
Brain
Heart
Genes
ATP1A2
ATP1A3
CACNA1A
Type of Inheritance
De novo
Disease Mechanism(s)
Unknown
Age of Onset
Infancy (age 0-1)
Incidence
Less than 10
Prevalence
101-1000
Symptoms / Phenotypes
autism
behavioral changes
cerebellar atrophy
developmental delay
hypotonia
movement disorders / ataxia / tremor
paralysis
seizures / epilepsy
Biomarkers
None
Existing Therapies
None
Organizational & Research
Cell Lines
iPSCs
Plasma
Cell Lines, location
Northwestern University
Vanderbilt University
Cell Lines, share
Yes
Disease Model
C. elegans
Mouse
Pig
Disease Model, location
Arhus University
Brown University
Duke University
Jackson Laboratories (JAX)
Porsolt
University of Leeds
Disease Model, share
Yes
Clinical Trial Role
Not involved
Biobank
Massachusetts General Hospital
Center of Excellence
Duke University
Massachusetts General Hospital
NIH
Vanderbilt University
Registry
No, we do not have a registry, but we plan to create one
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Medication usage
Retrospective data
Platform, Natural History Study
Not specified
FDA Patient Listening Session
No
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
We use an ICD-11 code capturing the family of diseases to which our disease belongs
Diagnostic Guidelines
Yes
Clinical/Treatment Guidelines
In the process of creating clinical/treatment guidelines
Organizational Roles
Research/Scientific Director
Science Advisory Board Policies
Does not have an SAB
Research Network Policies
Has CRN and willing to share policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Europe
North America
South America