• Benefits of Registration with CASK Gene Foundation

    For Families:

    The CASK Gene Foundation maintains a confidential database of CASK families from around the world. This CASK Registry allows us to help families make connections in their geographic areas, understand where the CASK community resides, assist those who are seeking grant-related funding for CASK-related causes, share with all the number of CASK disorder cases identified globally, and band together to better understand this condition and its prognosis. Parents and individuals with CASK gene disorders are invited to join our Family Network, and to use this forum to express their preferences to us, so that our development as an organization and a community can be guided by those we aim to serve. They are also invited to participate more actively in research opportunities, if they indicate here that they are interested.

    For Professionals:

    The CASK Gene Foundation aims to facilitate connections for the benefit of all those impacted by the CASK Gene - personally or professionally. We value collaboration among research teams, and we recognize that patient care can improve when providers can lean on the experience of those who have worked more closely with CASK gene disorders previously. Professionals are invited to join our Professional Network, so they can be notified with topics of interest to them.

    For Everyone:

    We're happy you found us, and grateful for your interest in learning about and spreading awareness of CASK gene disorders. We welcome you to register for our newsletter and updates, to stay informed as we all learn more together.

  • CASK Gene Foundation could not operate without our volunteers.


    They come from all backgrounds, and care about contributing their time to ensure that donations can primarily serve the CASK gene community, rather than operating costs of the foundation itself. At this time, every position within the foundation is a volunteer role, and each has a meaningful connection to the CASK gene.

    We occasionally request applications for specific volunteer roles, which are listed below, but you are welcome to fill out a volunteer application at any time. A wide variety of volunteer roles may be made available, based on the interests, talents, skills, and availability you wish to offer.

    Click on "Start Here" to fill out your application! 

  • Adding Another CASK Case

    This abbreviated form will use the personal information you previously entered. Click on "Start Here" to add another CASK Case

  • CASK Registry ROLL CALL

    This ROLL CALL form is for those who have received a genetic test for themselves or a patient they care for, which confirms a variant on the CASK gene (including those who have symptoms, as well as those who carry the CASK variant with no symptoms).

  • About You (the person filling out the form)

    We use this information to determine which sections of this form need your attention, and how we can help improve communication with our subscribers.

  • Please feel free to submit a new form. If we find you have previously registered, we will merge the records.

  • Your Contact Information

    We use your email to deliver your newsletter and any notifications you opt in to receive. Your specific street address and phone number are optional. Your city, state / province, and country / union details are used to help us learn about the location of the CASK communities.
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  • Contact Preferences

  • You can choose to receive notifications for CGF programs, but you may not be eligible to participate in research or receive scholarships until after a suspected CASK gene disorder is confirmed with genetic testing. You can return and update this form at any time, or you can update by emailing registry@caskgene.org. 

  • We won't be able to match you with other CASK cases until after a suspected CASK diagnosis is genetically confirmed. You can return and update this form at any time, or you can update by emailing registry@caskgene.org. 

  • Research Interests

    Use this section to let us know what types of research participation appeal to you

  • This page is blank because you did not check the box to be notified about "Opportunities to participate in research" on the previous page. If you want to learn about and opt-in to these additional opportunities, please click on the "Back" button and check that box before proceeding. 

  • CASK Gene Matrix

    The CASK Gene Matrix patient portal is a secure, one stop shop resource that can help you organize your medical records, track seizures or other symptoms/meds, and - if interested - get direct access to enrollment and participation in multiple CASK research studies simultaneously.

  • After submitting this form, watch for an email notifying you of your Matrix account creation. This is a manual process and will not happen immediately. If this form does not contain all the details to verify your eligibility, you may be asked for clarification. 

  • Volunteer Interests

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  • Professional Experience

    Use this section to tell us a bit more about your professional experience.
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  • CASK Registry Roll Call

    Use this next section to register any genetically confirmed CASK gene disorder diagnoses in your family. If you have more than one CASK case to register, you will be able to add another. You may complete this section for yourself and others who have a genetically confirmed CASK diagnosis, whether they are currently living or deceased.

  • About The Person with a CASK Diagnosis

    Please enter the information about this person exactly as it appears on their birth certificate. These fields are used to identify this record as a unique CASK case, or to merge it with an existing record for the same individual. Personal identifiers will never be shared. If you later consent to share de-identified data with research teams outside of CASK Gene Foundation, this record will be coded with a unique identifier, to protect the identity and location of this person.
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  • Current Status

    We use this information to give aggregate counts of how many CASK cases currently live in different geographic areas.
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  • Public Map Opt-In (Optional)

    When there are sufficient cases registered, there will be an interactive map online, which will allow you to see how close you are to another CASK case. If you opt in to the feature, the public directory map will not be activated for this case until there are sufficient cases registered, as to reasonably protect the identities and locations of all those registered. If you prefer not to opt-in, please leave this blank.

  • About the CASK Diagnosis

    We use this information to validate this CASK gene disorder case and to understand the incidence and prevalence of specific CASK gene disorders.
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  • If you can upload a copy of the genetic report now, the CGF research team can complete the next section for you.

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  • About the CASK Diagnosis

    Enter the details as seen on the genetic report. We can fill this in for you, if you uploaded a valid genetic report.

  • Neurological Findings

    Please indicate if any of the following neurological conditions have been diagnosed.

  • Research Opt-ins

  • With your consent, {fullLegal}'s CASK case, and any other information you choose to share about it, can be included in scientific publications and serve as a population baseline in scientific studies. This would not involve sharing any personally identifying information, which would remain securely protected. If you are only registering for CGF program and scholarship eligibility, this research opt-in is not required.

  • If you would like to review the consent document, and then choose not to sign it, you can click "yes" here and use the navigation buttons below to read through it and back up to this point again to click "no." If you remain undecided, we will skip this consent form for now, but you may request this option later by emailing registry@caskgene.org. 

  • The Clinical Research ID (CRID) is a revolutionary service that empowers patients to take control of their own research data. CRID is a service that enables patients involved in clinical research the opportunity to create their own Unique Universal ID. You create your CRID (for yourself and/or your child) and you decide which researchers to share it with. By sharing your CRID, researchers can then reuse, merge and share your research data (without using your personally identifiable information. 

  • You can quickly get a CRID any time at thecrid.org. Their service is completely free, and they never sell your data. 

  • CASK Registry

    Informed Consent for Research Participation - page 1 of 5

  • Protocol Number: CR2.4

    Sponsor: CASK Gene Foundation

    Investigator(s): Kristina Hone, MBA, TRS 

    CASK Gene Foundation

    1830 N 1120 W

    Provo UT, 84604

    Study-Related Contact Info: 801-881-4242; registry@caskgene.org

    Introduction

    CASK Gene Foundation would like to collect critical pieces of information about yourself and your family. The Foundation has started a study of participants with CASK gene disorders to better understand the natural history of CASK-related disorders and the complexity of the symptoms. The development of effective therapies depends upon the selection of appropriate outcome measures. This work is dependent upon patients participating in research. Our goal for this study will be to generate a comprehensive, accessible database about CASK Gene Disorders for researchers to use in their explorations of the causes of and treatment for CASK-related disorders.

    Why is this research study being done?

    The purpose of this research study is to collect natural history data through online surveys, interviews and collection of photos or videos and electronic health records. The surveys can be administered over time and with your permission, your data may be linked to secondary research done by additional research organizations. You are being asked to take part in this study because you or one of your family members is affected by a CASK-related disorder. If you are the parent or legally authorized representative of an affected individual, the term "you" in this document may refer to the individual you represent. There is no limit to the number of participants that will take part in this research. Your participation in this research is optional and you may withdraw your consent for your data to be utilized in research at any time. However, if the data is already in use by a research study, we cannot withdraw it because the information is de-identified when shared.

    How long will this research study last?

    This study is open-ended and expected to continue indefinitely, with follow-up assessments completed every 6 to 12 months. After consenting to the study, participants will complete several online surveys and may be contacted to schedule surveys which need to be administered by a trained research staff member or via videoconferencing. If you decide to join, you can withdraw at any time.

    What will you ask me to do?

    This study allows for the collection of participant data. All data collected will be stored on a HIPAA, GDPR-compliant platform. You will be asked to complete several questionnaires related to you or your child's medical history, provide basic demographic and contact information, genetic reports, and online surveys related to you or your child's mood, behaviors, symptoms, communication skills, sleep habits and cognitive development. We may also ask you about your past and current medications and which were effective.

    In addition to these online questionnaires and surveys, you may choose to upload photos or videos, track symptoms of interest, and you may be asked by a researcher to schedule an interview with a trained clinician for some of these assessments. These may be conducted in person or via video conferencing, as you are available.

    You may also be asked to provide our research team with access to your electronic medical records - these records will be integrated into the survey dataset to better inform our understanding of disease. The medical records that can be incorporated into this study include medical reports, photos, videos, audio recordings, your data from wearables, third party technologies, self- reported health information/data, and survey data.

    When participating in various focused projects within the CASK Registry study, you will be asked to have a phone, video, or in person interview with a CASK Registry worker, and may be invited to take a study-provided clinical form with you to your physician to be filled out during medical visits anticipated in the regular course of care for the patient.

    Some participants may also elect to provide biological samples (i.e. blood, saliva, urine), or provide direct access for collection of their medical records, for additional research through affiliated research partners. These modules are completely optional and will require additional informed consent.

  • CASK Registry

    Informed Consent for Research Participation - page 2 of 5

  • What will researchers do with my samples and data?

    Researchers will use many methods to study your data. Because this study will continue indefinitely, some of the methods may not even be invented yet.

    Who will be able to access the information I share with the study?

    Based upon the consent options you choose within your patient portal, your de-identified health information may be made available to researchers all over the world: at academic institutions, nonprofits, for-profit companies, and others. CASK Gene Foundation may also elect to work directly with your clinician and/or lead researcher to analyze your data. In these cases, it will be necessary to acknowledge your identity and share identifiable, individual level data such as genotype and phenotype data to better understand the disease area of interest and to share knowledge.

    Since researchers will be using de-identified samples, we may not be able to provide you with any results specific to your data. However, you may see general information from studies conducted using your de-identified sample, and some research results may be uploaded to your patient portal. You can request access to your own individual data.

    Federal and state laws and the federal medical Privacy Rule also protect your privacy. By signing this form, you provide your permission, called your "authorization," for the use and disclosure of information protected by the Privacy Rule. The research team will know your identity and that you are in the research study. We will use and disclose your information only to the primary researcher utilizing your data; however, people outside CASK Gene Foundation who receive your information may not be covered by this promise or by the federal Privacy Rule. We try to make sure that everyone who needs to see your information keeps it confidential - but we cannot guarantee that your information will not be re-disclosed.

    The use and disclosure of your information has no time limit. You may revoke (cancel) your permission to use and disclose your information at any time by notifying the project manager in writing at registry@caskgene.org.

    If you do cancel your authorization to use and disclose your information, your part in this study will end and no further information about you will be collected. Your revocation (cancellation) would not affect information already collected in the study, or information we disclosed before you wrote to registry@caskgene.org to cancel your authorization.

    A U.S. Federal law, the Genetic Information Non-discrimination Act (GINA), makes it illegal for health insurance companies, group health plans, and most employers to discriminate against you based on your genetic information. All health insurance companies, and group health plans provided by employers with 15 or more employees, must follow this law. This law will protect you in the following ways:

    • Health insurance companies and group health plans may not request your genetic information that is obtained from this research.
    • Health insurance companies and group health plans may not use your genetic information when making decisions regarding your eligibility or premiums.
    • Employers with 15 or more employees may not use your genetic information that is obtained from this research when deciding to hire, promote, or fire you or when setting the terms of your employment.

    Be aware that this Federal law does not protect you against genetic discrimination by companies that sell life insurance, disability insurance, or long term-care insurance, nor does it prohibit discrimination based on a genetic disease or disorder that you already know about. GINA does not prohibit discrimination because of an already clear genetic disease or disorder. This means if you or your child has a diagnosis and/or are being treated for a genetic condition, a health insurer may use the information to determine eligibility or rates.

    Researchers have developed databases for sharing de-identified individual level information (for example, health and genetic information) to identify the causes of disease through matching individuals with similar conditions. Only registered users can access the information in these databases. If you participate in this study, your data may be sent to such databases with only your code number attached. Your name or other directly identifiable information will not be given to such databases.

    Your private information and research information may be reviewed by individuals and organizations that conduct or watch over this research, such as The Institutional Review Board (IRB) that reviewed this research or organizations such as NIH or the FDA, should they become involved in this study.

     

  • CASK Registry

    Informed Consent for Research Participation - page 3 of 5

  • Will I be able to see my data?

    Yes, if you have opted to use the CASK Gene Matrix patient portal, you can view the data you have entered for the study, by logging in to your CASK Gene Matrix account online.

    What are the risks of taking part in the study?

    The main risk of taking part in this research is the unlikely, but possible, breach of your privacy or of the confidentiality of your medical information. The risk of this happening is currently exceptionally low. Your privacy is particularly important to us, and we will use many safety measures to protect your privacy and confidentiality. However, despite all the safety measures we will use, we cannot guarantee that your identity will never become known. There may also be a risk of uncomfortable feelings when responding to surveys or participating in interviews which deal with sensitive subject matters. Taking part in this study may have risks that we do not know about yet. We will tell you if we learn anything that might change your decision to take part.

    Will it cost me money to take part in this research study?

    There are no costs associated with your participation in this study.

    Financial Disclosure

    With your consent, the use of your data may result in commercial profit, such as a product, material, or process. The use of your data and/or samples may be used in this and other research and shared with other organizations. Any proceeds from this commercial development will be reinvested in CASK gene related research. You will not share in any commercial value or profit derived from the use of your data and/or information obtained from them, nor will you have special access to any products created because of your participation in this research.

    Will being in this research benefit me?

    This study may be of no direct benefit to you or members of your family. However, it is possible that because of your participation in this study, researchers will be able to identify results and potential treatments related to your disease and condition. Additionally, your participation may help researchers better understand the biological basis of diseases.

    Will I be paid for taking part in this research?

    You will not be paid monetarily for taking part in this research. There may be, at times, special promotions for earning points through participation in specific research activities. These points can be redeemed for the purchase of CASK gene related merchandise from the CASK Gene Foundation cafepress store online (www.cafepress.com/caskgene

    What happens to the information collected for this research?

    Your personal information and any associated health information will be shared with individuals and organizations that conduct or watch over this research, including: NorthStar Review Board, Across Healthcare and CASK Gene Foundation. These will keep your name, your unique identifier and other identifying information confidential. Across Healthcare is the organization that supports the webpages where you will enter the data. The name of the platform that supports the use of the webpage is called Matrix.

    Researchers using your data will not be provided identifiable information, unless you provide separate and specific consent to provide a unique identifier for purposes of linking your registry-related data to a researcher's additional study outside of the CASK Gene Foundation sponsored study environment.

    We protect your information from disclosure to others to the extent required by law. We cannot promise complete secrecy.

    What if I am injured because of taking part in this research study?

    The risks of being part of this research study are related to privacy and confidentiality, and we do not anticipate any injuries from participation.

     

  • CASK Registry

    Informed Consent for Research Participation - page 4 of 5

  • What happens if I agree to be in this research, but I change my mind later?

    Taking part in this study is voluntary. You can choose to join or not. No matter what you decide, now or in the future, it will not affect your medical care. Your decision to participate or to withdraw from participating will not result in any penalty or loss of benefits to which you are otherwise entitled.

    If you decide to join the study, you can change your mind at any time. If you decide you want to withdraw (quit), you need to tell us. You can tell us by emailing our database manager at registry@caskgene.org. If you stop participating, data that has already been used in research will still be used and cannot be recalled or destroyed.

    Your participation in this study may be stopped at any time by the investigator, the study team or your patient advocacy organization, without your consent for any reason, including: if it is in your best interest or you do not consent to continue in the study after being told of changes in the research that may affect you.

    New Information

    If there is new information or any significant new findings that could relate to your willingness to continue participation, we will tell you.

    Who can answer my questions about this research?

    If you have questions, concerns, or complaints about this research, talk to the research investigator at the contact information listed above on the first page. This research is being overseen by the North Star Review Board. North Star Review Board is a group of people who perform independent reviews of research studies. You may contact them at info@northstarreviewboard.org if:

    • you have questions, concerns, or complaints that are not being answered by the research team;
    • you are not getting answers from the research team;
    • you cannot reach the research team;
    • you want to talk to someone else about the research;
    • you have questions about your rights as a research participant.

    North Star Review Board has approved the information in this consent form and has given approval for the study to take place. This does not mean that the North Star Review Board has approved you to be in the study. You must consider the information in this consent form and decide if you want to be in the study.

    Natural History Study Participation Options:

    You are welcome to choose the additional ways you are comfortable participating in the CASK Registry (a natural history study). 

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  • Thank you for being willing to partner with your clinician! Clinician access accounts will be granted based on each medical provider's willingness and the number of CASK patients seen (i.e. priority given to clinicians seeing more CASK patients

  • CASK Registry

    Informed Consent for Research Participation - page 5 of 5

  • By signing this consent form, you are indicating your consent to participate in this study. 

  • By signing this form, you are indicating your consent, and it means that you are providing parental permission for your child to participate in the study.

  • By signing this form, you are indicating your consent, and it means that you are providing permission for the adult participant for whom you are a legally authorized representative to participate in this study.

  • Assent:

    If you are a parent/guardian providing consent for your child, or a legally authorized representative providing consent on behalf of an adult unable to consent for themselves, please explain the study to them to the extent that they are able to understand and ask for their agreement for you to enter data on their behalf. If they do not want you to enter data about them, you should not consent to participate.

  • Statement of Consent: 

    I have had enough time to read the consent form and think about agreeing to participate (or allowing my child to participate) in this study. I am willing to participate (or to allow my child to participate) in this research study. I understand the risks and benefits and other important things about the study. I have had the opportunity to ask questions. I understand the information given to me. I give up no rights by signing this form.

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