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The most critical part of rapidly discovering treatment for KAND patients is your participation. Without our community, nothing is possible.
KIF1A.ORG and members of the KIF1A Research Network from around the world are working relentlessly to discover treatments and cures for KIF1A Associated Neurological Disorder. As potential therapeutics are being explored in pre-clinical studies every day, our KAND community must get ready for the world’s first clinical trials for KAND treatments. The KOALA Study will bring together patients, families, clinicians, scientists, biotech leaders, and regulators to make this a clinical trial ready community.
What is the KOALA Study?
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 at Boston Children’s Hospital in Boston Massachusetts. The KOALA Study (KIF1A Outcome measures, Assessments, Longitudinal And endpoints Study) is led by Principal Investigator, Dr. Wendy Chung, and a team of specialists who will perform standardized assessments with KAND patients to understand how KAND symptoms develop and change over time.
To put it simply, if we can’t measure it, we can’t fix it. The KOALA Study will prepare the KAND community for clinical trials, which require validated outcome measures and endpoints to evaluate the effectiveness of potential therapeutics. Additionally, our hope is for the results of this study to produce a standard of care document to serve as a resource and understanding of KIF1A Associated Neurological Disorder for both the patient and medical communities.
What does the KOALA Study involve?
The study involves various clinical assessments during a two-day visit at Boston Children’s Hospital in Boston. The assessments will investigate multiple domains of KAND, including motor function, cognition, epilepsy, and vision.
A tentative schedule of all assessments can be found below. Each assessment will be conducted by a specialist (e.g. physical therapist, neurologist, neuropsychologist, and neuro-ophthalmologist). The visit includes:
- Motor function assessment
- Neurological assessment and EEG
- Neurocognitive/neuropsychological assessment
- Ophthalmology assessment
- Blood and urine samples
- Photos and videos to capture physical changes over time
The KOALA Study was designed with the comfort of patients–especially children–in mind. There will be breaks throughout the visit. While we hope to gather as much data as possible from each patient, each assessment is optional. For example, if a child is unable to cooperate with optical coherence tomography imaging during the ophthalmology assessment, that assessment will be skipped.
Please keep in mind that the KOALA Study is a vital research study to help the patient and medical communities better understand our disease. Participation in the KOALA Study is not a clinical appointment for medical advice; however Dr. Chung does see patients in regular clinical appointments for medical advice through her practice at BCH. Request an appointment through Jessica Waxler at jessica.waxler@childrens.harvard.edu. KIF1A.ORG also maintains a Clinician Directory to help locate specialists in your geographic location. As with everything we do, the primary objective is for the scientific community to urgently discover treatments for KIF1A Associated Neurological Disorder.
Dr. Chung describes the KOALA study & blood specimen collection in this video (minutes 19-33).
How do we enroll?
Chung Lab staff will send a consent form, and protocols of the study. You will also need to complete a pre-visit survey.
Depending on the number of patients enrolled, it may take several months for your appointment to take place.
Sometimes emails are sent to junk folders. If you do not hear back within five days, please email impact@kif1a.org so we can help with the connection.
The Basics
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 Honorary Board Member, 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 Boston Children’s. Email the Study Coordinator at ASCENDstudy@childrens.harvard.edu to confirm your/your loved one’s eligibility.
No! Boston Children’s Hospital will not charge participants (directly or through insurance) for KOALA Study visits.
The study will be held at Boston Children’s Hospital in Boston Massachusetts, USA. Their main address is 300 Longwood Ave, Boston, MA 02115. 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.
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 ASCENDstudy@childrens.harvard.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 Boston Children’s Hospital and 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 Boston Children’s Hospital clinicians?” section below to learn about how you may be able to schedule a separate clinical visit.
Example Schedule
The day will begin around 10:00 a.m. and end around 2:30 p.m.
1. Motor function assessment
- 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 and EEG evaluation
- 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
- 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
2. Ophthalmology assessment
- This assessment 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
Travel and Logistics
All assessments conducted through the KOALA Study will not cost anything for families.
Boston Children’s Hospital has developed this easy to follow brochure to help guide you in hotel stays, places to eat, and things to do while visiting BCH.
The major airport serving Boston is Boston Logan International Airport (BOS).
It can take a half hour to travel from BOS to Boston Children’s Hospital by taxi or car. Refer to this website for transportation resources for people with disabilities including wheelchair accessible Ubers, taxis, etc.
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 Boston/the United States
- The date you will depart from Boston/the United States
- The dates of your KOALA Study appointment at BCH
Preparing for Your KOALA Study Visit
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 Boston with siblings coming along. It is preferred that siblings do not attend KOALA Study visits at Boston Children’s Hospital. 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). 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
- face masks
- snacks and water bottles/beverages
Other Questions
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 ASCENDstudy@childrens.harvard.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 Boston Children’s Hospital.
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/