IRF2BPL Registry

Study Title: Survey of Individuals with IRF2BPL related disorders

Principal Investigator: Zachary Grinspan, MD MS. Weill Cornell Medicine. New York, NY.

Funding: Ellys Team

Purpose of the Study:
You are invited to participate in a research survey because you are a caregiver for an individual with an IRF2BPL related disorder. This survey aims to create a registry of individuals with IRF2BPL related disorders to understand the prevalence of this condition, collect baseline information about the degree of disability, and obtain contact details for potential future therapies.

What Will I Be Asked to Do?
If you agree to participate, you will complete an online survey that will take approximately 5-10 minutes. The survey will ask for basic demographic details, genetic information, and the functional abilities of the individual you care for.

Risks and Benefits:
There are no significant risks associated with participating in this study. Some questions may be sensitive or bring up difficult emotions. You may skip any question you do not wish to answer. While you may not directly benefit from participating, your participation will help guide future research and therapeutic development efforts.

Confidentiality:
Caregivers of children with IRF2BPL related disorders have asked our research team to be generous with sharing the data from this study with other researchers and pharmaceutical companies. We will likely share your research data with other organizations, including, for example, academic collaborators, caregiver-led advocacy groups, and pharmaceutical companies. Research datasets do not include people's names, home addresses, nor email addresses. Research datasets sometimes include the ability to link to other datasets. We will only share data when appropriate data-sharing agreements are in place.

You may request that we do not share your data in the "Data Sharing and Contact Permissions" section.

Voluntary Participation:
Your participation in this survey is completely voluntary. You may choose not to participate, or you may withdraw at any time without any consequences.

Contact:
If you provide your contact information, our research team may contact you for future research. This may include, for example, opportunities to participate in webinars, research conferences, surveys related to IRF2BPL, or clinical trials. You may opt out of this in the "Data Sharing and Contact Permissions" section.

We also may share your contact information with parent advocacy groups, also regarding opportunities to participate in webinars, research conferences, surveys related to IRF2BPL, or clinical trials. You may opt out of this in the "Data Sharing and Contact Permissions" section.

Withdrawal from Registry:
We will maitain your information in the registry for as long as the institutional review board (IRB) protocol is in effect. Your information can be removed at your request -- please contact the IRB or the primary investigator as listed below.

Contact Information:
If you have any questions about this study, please contact Dr. Grinspan at 212 746 3278 or by email at zag9005@med.cornell.edu. If you have any questions about your rights as a research participant, you may contact the Weill Cornell Medicine Institutional Review Board at irb@med.cornell.edu or (646) 962-8200.

First name of person with IRF2BPL variant

Last name of person with IRF2BPL variant

Date of Birth of person with IRF2BPL variant

(Month - Day - Year)

* must provide value

M-D-Y

Age

View equation

First name of primary caregiver

Last name of primary caregiver

Home Address

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Email Address

Secondary email address

Phone Number

Alternate Phone Number

Contact information for additional caregivers

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Type of IRF2BPL variant

Microdeletion

Point Mutation (including terms like missense, nonsense, truncation, or premature stop codon)

Something else

Not sure

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Please enter the details on the variant as it appears on the genetic report.

example 1) microdeletion of Chr5:88,098,253-88,592,348

example 2) c.220G>T p.Glu74Ter

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Please upload a copy of the genetic report

Upload file

Please upload a copy of the most recent EEG report.

Upload file

Please upload a copy of the most recent MRI report

Upload file

Please upload any other clinical records that you would like to include.

Upload file

Has the person with IRF2BPL ever had seizures?

Yes

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How often are the seizures?

None in the past 1 year

At least one in the past year but not every month

Monthly

Weekly

Daily

Multiple per day

Every day, too many to count

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Has the individual ever been diagnosed with infantile spasms?

Infantile spasms typically occur in the first two years of life. They have clusters of involuntary movements, a sudden bending forward and/or stiffening of arms and legs, and a very abnormal EEG. Most children with infantile spasms are treated with ACTH, oral steroids, and/or vigabatrin.

Yes

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Communication includes both sending and receiving information. How well does the individual communicate?

(Communication Function Classification System)

Normal for age with both familiar and unfamiliar people

Effective but slow, with both familiar and unfamiliar people

Usually effective with familiar people, but not unfamiliar people

Inconsistently effective with familiar people

Seldom effective even with familiar people

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Which of the following best describes how the individual handles objects?

(Manual Ability Classification System)

Handles objects easily and successfully

Handles most objects but with somewhat reduced quality and/or speed of achievement

Handles objects with difficulty (or needs help to prepare and/or modify activities)

Handles a limited selection of easily managed objects in simple actions (or in adapted situations)

Does not handle objects and has severely limited ability to perform even simple actions

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Please select all the motor skills that the individual can do.

(WHO Motor Milestones)

Sits without support

Hands-and-knees crawling

Stands with assistance

Walks with assistance

Stands alone

Walks alone

None of these

Which of the following best describes the individual's movement abilities (2 - 4yo)?

(Gross Motor Function Classification System)

Has difficulty controlling head and trunk posture in most positions
• and uses specially adapted seating to sit comfortably
• and has to be lifted by another person to move about

Can sit on own when placed on the floor and can move within a room
• and uses hands for support to maintain sitting balance
• and usually uses adaptive equipment for sitting and standing
• and moves by rolling, creeping on stomach, or crawling

Can sit on own and walk short distances with a walking aid (such as a walker, rollator, crutches, canes, etc.)
• and may need help from an adult for steering and turning when walking with an aid
• and usually sits on floor in a "W-sitting" position and may need help from an adult to get into sitting
• and may pull to stand and cruise short distances
• and prefers to move by creeping and crawling

Can sit on own and usually moves by walking with a walking aid
• and may have difficulty with sitting balance when using both hands to play
• and can get in and out of sitting positions on own
• and can pull to stand and cruise holding onto furniture
• and can crawl, but prefers to move by walking

Can sit on own and moves by walking without a walking aid
• and is able to balance in sitting when using both hands to play
• and can move in and out of sitting and standing positions without help from an adult
• and prefers to move by walking

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Which of the following best describes the individual's movement abilities (4 - 6yo)?

(Gross Motor Function Classification System)

Has difficulty sitting on their own and controlling their head and body posture in most positions
• and has difficulty achieving any voluntary control of movement
• and needs a specially-adapted supportive chair to sit comfortably
• and has to be lifted or hoisted by another person to move

Can sit on their own but does not stand or walk without significant support and adult supervision
• and may need extra body / trunk support to improve arm and hand function
• and usually needs adult assistance to get in and out of a chair
• and may achieve self-mobility using a powered wheelchair or is transported in the community

Can walk on their own with a walking aid (such as a walker, rollator, crutches, canes, etc.)
• and can usually get in and out of a chair without adult assistance
• and may use a wheelchair when travelling long distances or outside
• and finds it difficult to climb stairs or walk on an uneven surface without considerable help

Can walk on their own without using a walking aid, but has difficulty walking long distances or on uneven surfaces
• and can sit in a normal adult chair and use both hands freely
• and can move from the floor to standing without adult assistance
• and needs to hold the handrail when going up or down stairs
• and is not yet able to run and jump

Can walk on their own without using a walking aid, including fairly long distances, outdoors, and on uneven surfaces
• and can move from the floor or a chair to standing without using their hands for support
• and can go up and down stairs without needing to hold the handrail
• and is beginning to run and jump

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Which of the following best describes the individual's movement abilities (6 - 12yo)?

(Gross Motor Function Classification System)

Has difficulty sitting on their own and controlling their head and body posture in most positions
• and has difficulty achieving any voluntary control of movement
• and needs a specially supportive chair to sit comfortably
• and has to be lifted or hoisted by another person to move

Can sit on their own but does not stand or walk without significant support
• and therefore relies mostly on wheelchair at home, school and in the community
•and often needs extra body / trunk support to improve arm and hand function
• and may achieve self-mobility using a powered wheelchair

Can stand on their own and only walks using a walking aid (such as a walker, rollator, crutches, canes, etc.)
• and finds it difficult to climb stairs, or walk on uneven surfaces
• and may use a wheelchair when traveling for long distances or in crowds

Can walk on their own without using walking aids, but needs to hold the handrail when going up or down stairs
• and often finds it difficult to walk on uneven surfaces, slopes or in crowds

Can walk on their own without using walking aids
• and can go up or down stairs without needing to hold the handrail
• and walks wherever they want to go (including uneven surfaces, slopes or in crowds)
• and can run and jump although their speed, balance, and coordination may be slightly limited

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Which of the following best describes the individual's movement abilities (12+ years old)?

(Gross Motor Function Classification System)

Has difficulty sitting on their own and controlling their head and body posture in most positions
• and has difficulty achieving any voluntary control of movement
• and needs a specially adapted chair to sit comfortably and be transported anywhere
• and has to be lifted or hoisted by another person or special equipment to move

Can sit with some pelvic and trunk support but does not stand or walk without significant support
• and therefore always relies on wheelchair when outdoors
• and can achieve self-mobility using a powered wheelchair
• and can crawl or roll to a limited extent to move around indoors

Can stand on their own and only walks using a walking aid (such as a walker, rollator, crutches, canes, etc.)
• and finds it difficult to climb stairs, or walk on uneven surfaces without support
• and uses a variety of means to move around depending on the circumstances
• and prefers to use a wheelchair to travel quickly or over longer distances

Can walk on their own without using walking aids, but needs to hold the handrail when going up or down stairs
• and therefore walks in most settings
• and often finds it difficult to walk on uneven surfaces, slopes or in crowds
• and may occasionally prefer to use a walking aid (such as a cane or crutch) or a wheelchair to travel quickly or over longer distances

Can walk on their own without using walking aids, and can go up or down stairs without needing to hold the handrail
• and walks wherever they want to go (including uneven surfaces, slopes or in crowds)
• and can run and jump although their speed, balance, and coordination may be limited

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Has the person with IRF2BPL been diagnosed with any of the following?

(Select all that apply. Select "None of these" if none apply.)

Autism Spectrum Disorder

Major Heart Disease (something that required surgery)

Minor Heart Disease (any abnormality that does not require surgery)

Genital Abnormalities (hypospadias, undescended testes)

Cyclic Vomiting Syndrome

Abnormal muscle tone (high or low)

Dental problems (like fused teeth)

Eye problems (eye misalignment, eye palsy, keratoconus, or nystagmus)

Endocrine problems

None of these

Thinking about the individual's current level of function compared to the highest level of function achieved in the past, has there been regression (loss of skills) in any of the following domains?

(Select all that apply. Select "None of these" if none apply.)

Regression of speech or communication

Regression of gross motor skills (i.e., standing, walking, running, climbing stairs)

Regression of fine motor skills (i.e., dressing, using silverware, writing)

Regression of social skills (i.e., eye contact, showing affection, receiving affection)

None of these

This is a list of words that physician may use to describe abnormal movements. Has a physician ever said that any of these are present?

(Select all that apply. Select "None of these" if none apply.)

Ataxia

Athetosis

Chorea

Clonus

Dystonia

Myoclonus

Rigidity

Spasticity

Tics

Tremor

None of these

Would you like to learn more about participating in a clinical trial of gene therapy for IRF2BPL?

Yes

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Please indicate if you would like to opt out of the following.

Please do not share my research data with organizations outside of Weill Cornell Medicine

Please do not contact me about webinars, research conferences, surveys related to IRF2BPL, clinical trials, or future treatments

Please do not share my contact information with any parent lead advocacy groups

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