Count Me In for TBRS

Informed Consent

Participation in this survey is completely voluntary. With surveys of this nature, there is always the risk for breach of privacy and confidentiality. The TBRS Community has implemented measures to decrease this risk, including only allowing trained staff to analyze results, requiring an application from researchers to access data, and only releasing de-identified data to researchers. With Participant consent, first name, contact, and location information will be released to TBRS Community volunteers known as Regional Coordinators for the purposes of connecting families and providing Participants with resources; consent to share this information is not required to participate in the larger study. The data obtained through this survey will be stored on a secure system. However, there is still a small risk associated with breach of privacy and confidentiality that participantss should be aware of. Re-identification is also possible; although researchers will be required to agree not to attempt to re-identify patients, and release information will be de-identified, this is still a possibility in a small, rare disease community that participants should be aware of.

You may withdraw from this study at any time by contacting our study team at kit@tbrsyndrome.org

Proceeding to fill out this survey serves as consent for participation in it.

Should participants have any questions regarding this process or the study, please contact:

Kit Church, Community and Research Engagement Manager, kit@tbrsyndrome.org

Your Name*

First NameLast Name

I am a:*

Do you have a loved one with TBRS?

Do you have the legal authority to share medical information for this individual?

YesNo

Name of person who is diagnosed with TBRS in your family*

First NameLast Name

Address of diagnosed individual

Street Address

Street Address Line 2

CityState / Province

Country

We created a TBRS Community Map that is shared publicly, where we pin the city, state, and country of diagnosed individuals. Names and other information are not included on this map. Can we pin your city/state/country?*

YesNo

Would you like to be connected with the Regional Coordinator for your area (if one is available)? Regional Coordinators provide location and language specific materials to families and help you engage with local TBRS families and resources.*

YesNo

Birthdate of diagnosed individual*

Date

Year of Diagnosis

Variant of DNMT3A (This information is typically provided on your genetic test report. See example photo below and provide the information circled in red in this box.)

Upload genetic report here (optional):

Sex of diagnosed individual at birth? (We ask this to gather TBRS-related information about prevalence.):

MaleFemalePrefer not to answerOther

What racial or ethnic groups best describe the diagnosed individual? (We ask this to gather TBRS-related information about prevalence.):

Do you have any other TBRS diagnosed individuals in your household?

Do you have the legal authority to share medical information for this 2nd individual?

YesNo

Name of 2nd person who is diagnosed with TBRS in your family

First NameLast Name

Birthdate of 2nd person diagnosed with TBRS

Date

Address of diagnosed individual

Street Address

Street Address Line 2

CityState / Province

Country

Year of Diagnosis

Variant of DNMT3A info (see above example)

Upload genetic report here (optional):

Sex of diagnosed individual at birth? (We ask this to gather TBRS-related information about prevalence.):

MaleFemalePrefer not to answerOther

What racial or ethnic groups best describe the diagnosed individual? (We ask this to gather TBRS-related information about prevalence.):

If there are more than 2 people diagnosed with TBRS, please provide their information here, provided that you have the legal authority to do so:

Your Address*

Street Address

Street Address Line 2

CityState / Province

Postal / Zip CodeCountry

Your Phone Number

Your E-mail*

example@example.com

Primary language if you aren't fluent in English

We created a TBRS Community Map that is shared publicly, where we pin the city, state, and country of diagnosed individuals. Names and other information are not included on this map. Can we pin your city/state/country?*

YesNo

Are you OK if the TBRS Community contacts you regarding TBRS-related events, research studies, or clinical trial opportunities?*

YesNoOther

Please include name, specialty and contact information

If you are a parent, caregiver, or diagnosed individual, please read more about the TBRS & DNMT3A Patient Registry and consider contributing to this important research. https://tbrsregistry.iamrare.org

Is there any other information you would like to share with us?

Medical or Therapeutic Support Information