What is the purpose of this study?

This study aims to develop an understanding of seizures in people with CASK gene disorders. It will help doctors identify which combination of symptoms or characteristics may increase the likelihood of seizures developing. This, in turn, can guide more effective and proactive treatments, leading to better overall care for children with CASK-related seizures or epilepsy.

Who is eligible to participate?

• All patients with CASK pathology with and without epilepsy

• Ages birth to 18 years

• A confirmed diagnosis of a likely pathogenic CASK gene variant.  

• Have had at least one EEG. 

• Live in the United States. 

• Comfortable taking a survey in English.

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How do I participate?

Contact the CASK study team at:

Phone: 917-428-5317

E-mail: BMHpedsresearch@nyp.org

 

Is this study open to CASK individuals outside of the US?

Currently, we are only enrolling residents of United States. However, we hope to be able to expand to outside of US in the future. 

 

What will I have to do for my child to participate in this study?

You will virtually meet with one of the study team members to complete the informed consent. After that you will be asked to fill out an epilepsy survey. The study team will need to review your child’s MRI, EEG, genetic test report and neurologist notes. These would need to be requested from your medical provider. You may reach out to the study team if you have questions about any of the steps in this process. 

 

How much time will my participation take?

The initial consenting visit will take 40 – 60 minutes, this is time is needed to discuss the study in detail and answer all your questions. The survey typically takes about 40 - 60 minutes.  

 

Which medical reports will I need to share?

Genetic report: You may provide the screen shots from the genetic reports describing the mutation. 

Medical records/notes: Your child’s neurologist notes from initial diagnoses, seizure history and progression of epilepsy, medication history, developmental assessments. If there is no treating neurologist, the primary care provider notes related to the listed above categories. If your child had developmental assessment by another provider, please share these notes as well. 

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The process of acquiring the records varies across facilities and some may be very lengthy and might require multiple follow up from the parent or caregiver. 

 

My child has had multiple EEGs. Which ones should I share?

EEG: At least 3 EEG’s: initial, current and midpoint.

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More specifically, the initial 30-minute EEG is sufficient, otherwise 48–72-hour EEG closest to the seizure diagnoses/onset. The midpoint EEG could be the one closest to a significant clinical change or a routine screening EEG.

 

When requesting the EEG from your provider, specify that in addition to the report, they provide the waveform of the exam. 

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Important: Please ensure EEG records shared are the waveforms from the exam. These are usually backed up onto a CD. 

 

My child has had multiple MRIs. Which ones should I share?

MRI: If available provide the initial, current and midpoint MRI’s. 

 

Since there may be some cases where you not sure of which imaging exam to provide, feel free to reach out to the study team and we will address your specific questions.

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Important: Please ensure MRI scans shared are the images from the exam.  These are usually backed up onto a CD.

 

How do I get access to my records?

You will need to reach out to the treating/imaging facility where the test the test took place and complete their medical release form. On the medical release form indicate the records/CD to be sent to: 

 

CASK Study 

Oksana Nulman 

Department of Pediatrics 

New York Presbyterian Brooklyn Methodist Hospital 

506 6th Street 

Brooklyn, NY 11215 

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When will results be shared?

The results will be shared once all the data has been collected and analyzed.  This information will be available on clinicaltrials.gov. 

 

Who is leading this study?

The study is carried out by Dr. Asim Shahid a neurologist and his team at Pediatric Department of the New York Presbyterian Brooklyn Methodist Hospital in Brooklyn New York.
 

Who will have access to my medical records?

Dr. Shahid and his designated research team members will have access to the records provided.

 

Where can I find information on the progress of the study?

clinicaltrials.gov is a publicly available resource on the study progress.

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Who do I contact if I have questions about the study or want to participate?

Oksana Nulman

Phone: 917-428-5317

E-mail: BMHpedsresearch@nyp.org