Participate in Research

KIF1A Associated Neurological Disorder is a complex genetic condition with a range of mutations leading to a diverse spectrum of symptoms and severity. Thanks to patients and families who participate in KAND research with the medical and scientific community, we have significantly strengthened medical and research knowledge of KAND and how therapeutic strategies will bring life-changing and life-saving treatments KAND patients and families.

As a patient or family member, YOU are a vital piece of the KAND puzzle. We can’t do it without you. By participating in research, your family will accelerate therapeutic development for not only yourselves, but also the entire KAND family community. No matter how long you’ve been diagnosed, what language you speak, or where you live, we need you to help solve the KAND puzzle and create better lives for KAND patients and the people we love.

There are multiple opportunities for you to play a central role in KAND research. If you have any questions or need support, please email impact@kif1a.org.

KIF1A.ORG Patient Registry

How many KAND patients are there in the world? Every KAND patient deserves to be represented in advocacy and research initiatives. KIF1A.ORG manages a confidential patient registry to track the growing number of patients from around the world. Our patient registry helps the KIF1A.ORG community inform family, scientific, medical, pharmaceutical, regulatory, and governmental stakeholders about our collective need for better care and treatments.

If you haven’t already, complete our Newly Diagnosed form (even if you’ve had the diagnosis for a while) to make sure you’re counted in the KAND community.

KAND Natural History Study Part 1: Online Interviews and Surveys

How do KAND symptoms develop and change over time? In 2017 our key research partners at the Chung Lab launched the KAND Natural History Study in partnership with KIF1A.ORG to help families, researchers, clinicians, and therapeutic developers quickly advance our understanding of KAND and develop treatment strategies.

You can participate in this study from your home by completing interviews and surveys online in your preferred language. Click here to learn how to enroll.

KAND Natural History Study Part 2: In-person KOALA Assessments

How will we measure the effectiveness of treatments in clinical trials? In 2022, KIF1A.ORG launched the KOALA Study with our partners at the Chung Lab. The KOALA Study is an opportunity for patients and families to advance KAND research, and get us closer to treatment, by participating in clinical assessments in-person. The KOALA Study (KIF1A Outcome measures, Assessments, Longitudinal And endpoints Study) will prepare the KAND community for clinical trials, which require standardized outcome measures and endpoints to evaluate the effectiveness of potential therapeutics.

KAND Epilepsy Study

How do seizures and epilepsy manifest in KAND patients? In 2022, KIF1A.ORG launched an Epilepsy Study with Dr. Jennifer Bain and Dr. Tristan Sands at Columbia University to identify and characterize epilepsy and seizures in KAND. This epilepsy study will allow experts to closely analyze these EEGs and natural history data to provide crucial insights into epilepsy diagnosis, evaluate existing treatments, and help develop new treatments.

Participating in this study is as easy as mailing your EEG files to the research team at Columbia University. Visit our Epilepsy Study page to learn more!

International KAND Speech Study

How does KAND impact speech? KIF1A.ORG has partnered with MCRI in Melbourne Australia to launch a speech study with Professor Angela Morgan and Lottie Morrison.

This study aims to identify and characterize speech and non-verbal communication in KAND patients and shed light on commonalities among our patients. This study will also allow experts to identify helpful communication aides, therapies, and speech biomarkers for KAND which could be used in future clinical trials. Visit our Speech Study page for more details and how to enroll!

An Important Consideration

The Selfless Gift of Brain Donation

Through a partnership between KIF1A.ORG and Autism BrainNet, a compassionate process has been established for KAND families who would like to advance research through the gift of a brain donation, should their loved one pass away. Though this is a deeply saddening topic to approach with our KAND community, it is important to note that this does not indicate your loved one(s) could pass away from an early death caused by KAND or any other condition. It is best to approach these decisions in advance, regardless of the severity of KAND, instead of during the worst moment in time. This allows your family to be prepared to make this decision if such an unexpected or tragic situation were to occur. Please read more here.