KIF1A.ORG has an urgent and collaborative approach to accelerating the discovery of treatment for patients living with KIF1A Associated Neurological Disorder. Together with the KIF1A research and medical team, we work to de-risk industry’s process of developing therapeutics for KAND. With no treatment options and time running out for our friends, the KIF1A.ORG community works at a rapid pace.

As a patient-led research organization, our responsibility is to bring efficient and organized tools to the table. Our robust development tools are openly available to the scientific community, including biotech and pharma.

Efficient Collaboration

These tools support every function of research and development — from pre-clinical discovery through clinical trial readiness and a prepared, proven regulatory pathway. KIF1A.ORG resources are powered to support any therapeutic program working to bring treatment to KAND patients.

This KAND toolkit crosses off industry line items in a validated, scientific approach. From a robust, longitudinal Natural History Study to caregiver insights geared for rapid clinical trial design, the KAND community is mobilized and accessible.

Each of these tools require significant time and resources, and are often the reason companies choose not to invest in a rare disease program. Not with KAND. We make the process faster and easier for any biotech company bold enough to find treatment for children and adults fighting this neurodegenerative disorder.

  • Detailed natural history and genotype/phenotype studies
  • Detailed and re-contactable patient registry
  • List of pathogenic mutations
  • Animal models available through The Jackson Laboratory
    • p.L181F- “leg dragger” mouse
    • p. P305L patient mutation mouse
  • iPSC lines of mutations with diverse phenotypes
    • Patient-derived KIF1A variant iPSC lines available through the Coriell Institute for Medical Research
      • P305L
      • E253K
      • C151Y
      • R316W
      • R203S with wild-type isogenic control line isolated from mosaic patient
    • Genetically engineered KIF1A variant iPSC lines available through The Jackson Laboratory
      • C92*
      • T99M
      • P305L
      • R316W
      • A255V
      • R350G
      • L947R
      • L181F
  • Rapid response and open dialogue with clinical research team
  • Rapid response and open dialogue with families and foundation
  • Complementary Archigene genome browsing software licenses
  • Detailed re-contactable patient registry to support rapid enrollment
  • Global map of patient locations to support trial site feasibility and selection
  • Center of excellence with trial experience and capabilities ready to activate
  • Families willing to support trial design and protocol development
  • Meaningful clinical endpoints and outcome measures
  • Educated families to advocate with company for approval
  • Detailed description of impactful and meaningful outcome measures
  • Structured PFDD model prepared with clear message
  • Impactful videos of families illustrating unmet needs and meaningful change
  • Physicians ready to advocate for approval
  • Data on frequency and global need for treatment
  • Detailed patient journey stories freely accessible
  • Family advisory board to support formulation decisions
  • Detailed understanding of diagnostic pathway
  • Rapid response and open dialogue with clinicians
  • Rapid response and open dialogue with patient families

KIF1A Capabilities

Today we have full pre-clinical capabilities and are urgently seeking biotech companies to develop treatment for children affected by mutations in the KIF1A gene. We have an enormous unmet therapeutic need, and time is running out for KIF1A kids. We need your help to stop this progressive neurodegenerative disorder. Our foundation plays an active role in the development process by freely providing all of these tools to industry. 

KIF1A.ORG is not interested in patents or profit. We’re a group of patients, advocates, caregivers, family members and scientists relentless in our fight to give children with KAND a meaningful and happy quality of life.

Applicable to Any Rare Disease

Tools for Development is an efficient model that any organized and driven rare disease foundation can employ. We’re eager to share this process with the rare disease community. Powered by urgency and collaboration, our work to cure KIF1A will benefit every child living with a rare genetic disease.