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

When clinical trials for KAND begin, we will need to clearly measure changes in disease and rate of progression to successfully measure what a meaningful therapeutic change looks like, and what it means to change the trajectory of life and outcomes for our loved ones. That’s where the KOALA Study comes in. 

An absence of KIF1A-appropriate endpoints to measure efficacy in clinical trials is a major obstacle in our path to treatments, and we are taking a wrecking ball to that obstacle. The goal of the KOALA Study is to identify standardized tools to measure what a meaningful change would be for our heterogeneous community. The KOALA Study will expand upon the current, robust KIF1A natural history and add elements of study that are critical to the process of approved treatments. Every patient is unique, and the KOALA Study aims to capture elements from multiple unique mutations in KIF1A.

Learn more about the KOALA Study in this announcement from KIF1A.ORG and this Press Release, with comments from KIF1A.ORG Founder and Board Chair, Luke Rosen, and Principal Investigator, Dr. Wendy Chung.

Eligible participants have a pathogenic or likely pathogenic classification of their KIF1A mutation. This information is included on your genetic test report. The eligibility of patients with a KIF1A “variant of uncertain significance” will be determined by criteria established by Chung Lab at Columbia University. Email the Study Coordinator at kif1a_study@cumc.columbia.edu to confirm your/your loved one’s eligibility. 

Columbia University will not charge participants (directly or through insurance) for KOALA Study visits.

The study will be held at Columbia University Irving Medical Center in New York City, USA. Their main address is 622 W 168th St, New York, NY 10032. More information about specific building locations will be provided upon enrolling in the study.

The clinical assessments will be completed over a two-day period on Mondays and Tuesdays OR Thursdays and Fridays.

The KOALA Study aims to follow patients through annual visits over a 10-year period so researchers can understand how KAND symptoms develop and change over time.

Participants can opt out of any portion of the study and still participate in the KOALA Study. By opting out of any assessment, no data will be collected for those specific assessments.

Please contact the Study Coordinator via email at kif1a_study@cumc.columbia.edu to let them know your language preferences. Study participants/caregivers must be able to fully understand the study assessments and protocols and make informed decisions about your participation. Whenever possible, the KOALA Study team at Columbia University and/or KIF1A.ORG will support your participation by providing translated materials and/or interpreters.

Because this is a research study, the KOALA Study team, including specialists, are unable to provide clinical opinions or answer medical questions. If requested, the results of the neurophysiological assessment will be shared with the patient/caregivers. However, all other research assessments will not be shared with the patient/caregiver. None of the assessments will be documented in the patient’s electronic medical record. 

It is important for each individual patient to seek medical guidance from their personal care team of specialists who are most familiar with their health history and concerns. IF a KOALA Study specialist notices a potential concern (e.g. possible optic nerve atrophy observed during eye exam or a possible seizure), the specialist will communicate the potential concern and recommend the patient/family follow up with their doctor(s) to discuss medical guidance. Please read the “Can I schedule a clinical visit with Columbia University clinicians?” section below to learn about how you may be able to schedule a separate clinical visit. 

The day will begin around 10:00 a.m. and end around 2:30 p.m.

1. Motor function assessment with Jacqueline Montes, PT, EdD, NCS

• Gait analysis: this analysis, including breaks, is expected to take between 90-120 minutes
• Gross/fine motor function evaluation
• 6-minute walk, or endurance, test: this will be conducted for only those participants who can walk without any assistive devices, excluding orthotics

2. Neurological assessment with Jennifer Bain, MD, PhD, and EEG evaluation by Nicolo Pini, PhD

• Preparing the participant for the Research EEG should take no more than 5 minutes
• The EEG net used for this assessment provides more contacts (currently 128 leads) without the need for alcohol preps, skin abrasion with electrode paste or gel
• Once the EEG net is placed, there will be a short-term resting EEG captured

The day will begin around 9:00 a.m. and end around 3:00 p.m.

1. Neurocognitive/neuropsychological assessment with Robert Fee, PhD

• This assessment will not last longer than an hour and may be shorter depending on the participant’s ability and attention
• Anyone over 5 years old can participate in this assessment
• If the participant is under 5 years old, they will participate in a different assessment with a different provider

2. Ophthalmology assessment with Aliaa Abdelhakim, MD, PhD

• This assessment will be completed with Columbia University’s Eye Institute and will include vision acuity, automatic refraction, visual field evaluation, and ophthalmoscopy
• Additional testing may be conducted based on age and ability, including optical coherence tomography, fundus photography of the retina and optic nerve with clinician grading of atrophy, and peripheral vision assessments

Additional sample and data capture during the KOALA Study

• Upon consent, up to 10cc of blood by venipuncture and voided urine will be collected and stored for future biomarker development
• Photo and video may be taken to highlight any changes of physical features

After your visit, be on the lookout for correspondence from KOALA Study’s Study Coordinator to schedule a post-study Zoom meeting with Dr. Wendy Chung. This meeting will be scheduled approximately 1 month after your visit.

All assessments conducted through the KOALA Study will not cost anything for families.

We strongly recommend you stay at the Edge Hotel at 514 W. 168th St. New York, NY 10032, which is the closest hotel to Columbia University Irving Medical Center. Visit their website at https://www.edgehotelnyc.com/.

There are three major airports serving New York City. For domestic flights within the United States, LaGuardia Airport (LGA) is likely your best option. LGA is the closest airport to the Washington Heights area where Columbia University is located. John F. Kennedy International Airport (JFK) and Newark Liberty International Airport (EWR) are likely destinations for international travelers. 

It can take an hour or hour and a half to travel from JFK or EWR to Columbia University by taxi or car. While New York City has affordable public transportation via bus and subway, it is often inaccessible or unnecessarily difficult for people with disabilities.

KIF1A.ORG help arrange transportation to and from the airport to your hotel if necessary. Please email koala@kif1a.org if assistance is needed.

Yes, if you need a support letter, please email koala@kif1a.org with the following information:

• Your full name and the full name of anyone traveling with you and your relationship to them (e.g. first name, last name, spouse; first name, last name, child)
• Your physical address
• The date you will arrive in New York City/the United States
• The date you will depart from New York City/the United States
• The dates of your KOALA Study appointment at Columbia University

All patient-facing staff within Columbia University must be vaccinated and boosted. All staff performing assessments will be in compliance with this requirement. Please refer to Columbia University Irving Medical Center’s latest COVID policies for safety measures and requirements. At this time, all individuals inside Columbia’s facilities must wear a mask or face covering, with an exception for children under the age of two and those with intellectual disabilities or related medical exemptions. 

The United States Centers for Disease Control and Prevention (CDC) requires proof of COVID-19 vaccination for air passengers over 18 years old who are non-U.S. citizens and nonimmigrant passengers arriving from a foreign country. Proof of a negative COVID-19 test or recovery is also required for passengers over two years old. Children under 18 years old may need to be tested with a COVID-19 viral test 3-5 days after arrival in the United States, unless there is documentation of having recovered from COVID-19 in the past 90 days. Please check with the CDC website for current requirements and ensure you and your family follow the requirements for your specific situation. 

nycgo.com has a helpful webpage on current COVID-19 information and resources for travelers to New York City. If you are traveling to New York City via airplane, car service, taxi, Uber/Lyft, bus, subway, etc., please remember to check with those service providers to see their COVID-19 protocols and policies. Service providers may require masking or other precautions.

We recommend one or two caregivers attend the KOALA Study visit with the patient, unless a KAND patient is able to enroll in the KOALA Study independently. We realize it may be fun and/or more feasible to travel to New York City with siblings coming along. It is preferred that siblings do not attend KOALA Study visits at Columbia University. If one or more siblings are traveling with you, you may choose to have a caregiver stay with them (e.g. at the hotel or exploring the city). We have multiple families and friends of KIF1A.ORG in the NYC area. Please email koala@kif1a.org if you want help or ideas for traveling with your family.

Bring anything with you that you would normally pack when visiting the doctor’s office for a lengthy appointment. You should plan to bring:

• any assistive mobile devices (walker, wheelchair, etc.)
• toys and comfort items
• any medical records you have not already sent to Chung Lab
• photo identification for adults (required to access Columbia University buildings)
• face masks
• snacks and water bottles/beverages

The KOALA Study is a research study, not a clinical visit. The assessments being conducted will be research-based and specialists involved in the study will be unable to answer medical questions about specific participants, situations, or symptoms. Dr. Wendy Chung will make an attempt to see families coming in for the KOALA Study, but based on her schedule, she may not be available. If you are interested in a clinical visit with Dr. Chung or any of the specialists involved in the study, please email Chung Lab at kif1a_study@cumc.columbia.edu to ask about possible clinical visits in person or via telehealth. Clinical services will require payment via insurance or out of pocket. Please discuss questions about clinical visits with Columbia University staff. 

The KOALA Study will generate validated and standardized outcome measures and endpoints that bio therapeutic companies and regulatory agencies will require to conduct large-scale clinical trials to measure safety and efficacy. Here’s a helpful explanation of outcome measures and endpoints from the National Institutes of Health:

“An endpoint is a targeted outcome of a clinical trial that is statistically analyzed to help determine the efficacy and safety of the therapy being studied… Clinical outcomes assessments measure direct clinical benefit to the participant whereas surrogate endpoints, including biomarkers, predict clinical benefit… Endpoints must be validated prior to use in a clinical trial. Endpoint choice depends on the clinical trial design, the nature of the disorder or condition being treated, and the expected effect of the therapy being tested.” 

Visit the NIH’s website to learn more: https://toolkit.ncats.nih.gov/glossary/endpoint/