KIF1A.ORG, Inc.
Cycle 1
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 04/30/2026
Clinical
Disease Class
Neurological diseases
Body Systems
Muscular / Skeletal
Nervous / Sensory
Organs
Bladder
Brain
Muscles
Nerves
Known Genetic Link
Yes, one or more genes directly cause the condition
Causative Genes
KIF1A
Contributory Genes
None specified / unknown
Type of Inheritance
Autosomal dominant
Autosomal recessive
De novo
Newborn Screening
Yes, in some states
Disease Mechanism(s)
Other
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Elderly (age 65+)
Infancy (age 0-1)
Middle childhood (6-11)
Average Age at Diagnosis
Middle childhood (6-11)
Life Expectancy
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Elderly (age 65+)
Infancy (age 0-1)
Middle childhood (6-11)
Affected Sex(es)
Female
Male
National Prevalence
101-1000
Global Prevalence
1001-10000
National Incidence
Less than 10
Global Incidence
Less than 10
Symptoms / Phenotypes
abnormal brain features
developmental delay
exaggerated reflexes / hyperreflexia
hypertonia
hypotonia
intellectual disability
movement disorders / ataxia / tremor
muscle atrophy
neurogenic bladder
peripheral neuropathy
seizures / epilepsy
spastic paraplegia
speech delay
vision problems
Biomarkers
None
Existing Therapies
Expanded access (Compassionate Use)
Therapies in Development
Antisense oligonucleotide (ASO) therapy
Devices/medical equipment
Gene therapy
RNA interference (RNAi) therapy (siRNA, etc.)
Repurposed drug
Therapeutic Development Stages
In preclinical development
In research/exploratory phase
Therapeutic Development Role
Focus group participation or coordination
Other
· International family consultant
Outcome measures development
Recruitment and outreach to patients
Recruitment and outreach to trial sites / physicians
Organizational & Research
Cell Lines
iPSCs
Cell Lines, Institution
Coriell Institute
Jackson Laboratories (JAX)
Cell Lines, Involvement
Consulted
Designed
Cell Lines, share
Some of our cell lines are freely available
Disease Model
C. elegans
Drosophila/fly
Mouse
Organoids
Disease Model, Involvement
Consulted
Designed
Disease Model, share
Some of our disease models are freely available
Organizational Challenges
Not applicable
Clinical Trial Role
Not involved
Biobank, Institution
None
Center of Excellence, Institution
Boston Children's Hospital
Center of Excellence, Involvement
Consulted
Registry
Yes, we have a registry that we created
Data Collected, Registry
Patient contact info
Patient-reported data
Data Entered by, Registry
Other
Platform, Registry
Other
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
Yes, we have guidance available on our website
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN and willing to share policies
Patient Priority Survey
Yes
Patient Priority Survey, share
Yes, will share
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
Africa
Asia
Europe
Middle East
North America
Oceania
South America
International Partners
None
Other International Research Initiatives
None