Natural history study of KIF1A-associated neurological disorder (KAND)
Official title: Natural history of KIF1A associated neurological disorder
Funded at Boston Children's Hospital · NIH-11494889 · Data updated 2026-11-12
We’re studying how KAND progresses over time in people with different KIF1A mutations to find reliable ways to measure change.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 25, 2026 |
| Project end | August 31, 2030 |
| Funding year | 2026 |
| Award (this year) | $599,239 |
| NIH project number | 1R01FD008873-01 |
| Project ID | NIH-11494889 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with KIF1A-associated neurological disorder (KAND), across different genotypes, who can provide medical history and participate in follow-up.
✕Less likely to help
Individuals without KAND or those unable to participate in longitudinal follow-up may not benefit.
What this research studies
This project follows people with KAND to map how symptoms evolve over years, using medical records and online surveys. Researchers will look at development, movement, thinking, vision, seizures, brain scans, and quality of life to identify meaningful outcomes. The study partners with KIF1A.ORG to enroll patients by genotype and establish endpoints that could support future therapies. The work will collect data from at least 200 participants and may inform how future treatments are tested.
Why it matters
Potential benefit: Better understanding of how KAND changes could lead to improved care and the design of future trials for disease-modifying therapies.
How similar studies have gone: Preliminary data from 311 patients suggest mutation-dependent disease trajectories, supporting this natural-history approach.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Chung, Wendy K — Boston Children's Hospital
- Study coordinator: Chung, Wendy K
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.