KIF1A.ORG, Inc.

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KIF1A-Associated Neurological Disorder (KAND) is a severe and rare neurodegenerative disorder with a progressive course. KAND is caused by gain of function mutations in the KIF1A gene. The condition can affect both the brain and body, such as the eyes, muscles and nerves. There is a wide range of symptoms that appear at birth or in early childhood.

Last updated May 2024

Clinical
Disease Class
Rare genetic diseases
Rare neurological diseases
Body Systems
Cardiovascular / Circulatory
Digestive
Hematopoietic / Lymphatic / Immune
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Reproductive
Respiratory
Organs
Bones
Brain
Connective tissue / joints
Eyes
Muscles
Spinal cord
Stomach
Genes
KIF1A
Type of Inheritance
Autosomal dominant
Autosomal recessive
De novo
Disease Mechanism(s)
Pathogenic mutation
Age of Onset
Adolescence (12-17)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Incidence
Less than 10
Prevalence
101-1000
Symptoms / Phenotypes
abnormal brain features
developmental delay
exaggerated reflexes / hyperreflexia
hypertonia
hypotonia
intellectual disability
movement disorders / ataxia / tremor
muscle atrophy
peripheral neuropathy
seizures / epilepsy
spastic paraplegia
speech delay
vision problems
Biomarkers
None
Existing Therapies
None
Organizational & Research
Cell Lines
iPSCs
Organoids
Cell Lines, location
Columbia University
Coriell Institute
Jackson Laboratories (JAX)
Cell Lines, share
No
Disease Model
C. elegans
Mouse
Organoids
Rat
Zebrafish
Disease Model, location
Jackson Laboratories (JAX)
NIH National Institute of Child Health and Human Development (NICHD)
Tohoku University
Disease Model, share
No
Clinical Trial Role
Not involved
Biobank
Not specified
Center of Excellence
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Genetic data
Patient contact info
Data Entered by, Registry
Patients
Platform, Registry
Not specified
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
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
Not specified
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
In the process of creating diagnostic guidelines
Clinical/Treatment Guidelines
In the process of creating clinical/treatment guidelines
Organizational Roles
Executive Director
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
Europe
North America
Oceania
International Partners
Europe