Global Research Study to Understand Impact of TK2d on Patients and Caregivers
If you live with TK2d, or care for someone affected by TK2d, please share your experience.
UPDATE: The deadline to complete the survey has now been extended into January 2024.
Please click the buttons below to access the survey as a…
who is above the age of 18, answering for yourself or with a person helping you to type your answers
What is TK2d?
TK2d (thymidine kinase 2 deficiency) is a rare genetic mitochondrial disease that can have a serious impact on a person’s health and quality of life.
TK2d is defined by severe muscle weakness and often impacts a person’s ability to walk, eat, and breathe independently.
TK2d causes a range of symptoms that can impact people of all ages. The first case of TK2d was diagnosed in children in 2001, less than 25 years ago!
The ATP Study
More research is needed to understand and describe the impact of TK2d on children, teens, young adults, adults, and family who help care for those affected.
The ATP study (Assessment of TK2d Patient Perspectives) is a research project aiming to describe, through a survey to patients and caregivers, the challenges of living with TK2d and the ways that the disease impacts day-to-day life.
This study is needed to support scientific research that can highlight the needs of the community, such as improvements for medical care and community resources as well as raise awareness about the condition among healthcare providers and healthcare decision makers.
How you can help?
If you are a parent, caregiver, spouse, or other closer family member of a person with TK2d OR a person affected by TK2d over the age of 18, you are invited to complete the survey.
If you are over the age of 18 and need help completing the survey, someone else is allowed to answer the questions on your behalf or help you complete the survey.
The survey is in two parts:
The patient section asks questions about the experience of the person with TK2d. It can be completed by the person with TK2d or by a parent or caregiver if the person with TK2d under the age of 18 or unable to complete it themselves.
The caregiver section asks about the impact of the disease and the experience of being a caregiver.
The survey will guide you to the appropriate sections to complete. Parents and caregivers of individuals under the age of 18, you are please encouraged to complete the patient section of the survey about the signs, symptoms, and challenges that your child with TK2d experiences.
What is the deadline?
The survey is open now in English, Spanish (Latin American), Spanish (European), French, German, Italian, Portuguese and Turkish.
UPDATE: The survey deadline has now been extended into January 2024.
How long will it take?
The survey has been tested by real TK2d patients and caregivers as well as partner mitochondrial disease groups and should take about 60 minutes to complete. There are multiple choice and open-ended questions; not all questions are required.
You may complete the survey in one sitting or in parts. If you need to stop and come back as time permits, please bookmark this page and re-enter the survey using the links below on the same device (if you start the survey on your mobile phone, you need to come back to complete it on the same device).
Is there any benefit to participating?
The most meaningful benefit is the opportunity to contribute to better and more accurate understanding of TK2d and how this disease impacts people living with the disease and their caregivers.
Additionally, you will receive a €60 gift voucher (or local currency equivalent) (shared to you by email).
Who is conducting this research?
This study is led by Rare Disease Research Partners, an international research organization based in the UK, in cooperation with several mitochondrial disease patient organizations. The study is being conducted on behalf of a pharmaceutical company seeking a better understanding of the experience of patients and caregivers affected by TK2d.
If you need support, please contact International Mito Patients, the global mitochondrial disease network organization who can refer you to the regional patient organization closest to you.
I still have questions... who can I contact?
If you still have questions, please get in touch with us at:
Rare Disease Research Partners
MPS House, Repton Place, White Lion Road
Amersham, Buckinghamshire, HP7 9LP, UK
e: info@rd-rp.com
t: +44 (0) 345 260 1087
More information about the study and your involvement is provided on an information sheet at the start of the survey.
Click the buttons below to learn more about the survey and download a copy of the information sheet:
Where is the privacy policy and ethics review statement? How is my data used?
You will be asked to share your name, email address, country where you live, age of the person affected, and details about how the disease impacts you and/or your family. The information collected in this survey has been reviewed by an ethics board and adheres to global data privacy regulation standards.
To view the complete data privacy statement:
How can I take the survey?
You should not complete the survey IF you are part of a clinical trial investigating the use of nucleoside therapy to treat TK2d.
If you are using nucleoside therapy through compassionate use, self-pay, or other access, you are eligible and encouraged to complete the survey. The study is only open to those who have a genetically confirmed diagnosis of TK2d and their caregivers.
Please click the buttons below to access the survey as a…
who is above the age of 18, answering for yourself or with a person helping you to type your answers
IMPORTANT! Please bookmark this page and click on the same link above to return to the survey if you need to stop and come back later to complete your answers. Note that you must come back on the same device (same mobile device, computer, etc.) or you will be prompted to start over.
You must also ‘accept cookies’ if prompted by your internet browser. This will save your responses and allow you to return to it at another time.
For technical support, contact: info@rd-rp.com
Please note…
No Medical Advice or Diagnosis
This survey is provided for informational and research purposes only. It does not offer medical advice, diagnosis, or treatment recommendations. The information collected in this survey is not a substitute for professional medical advice or care. You should always consult your healthcare provider for any medical concerns or advice related to your health.
Diagnosis Adverse Event Reporting
If you experience any adverse events, side effects, or any other medical issues related to a treatment, it is your responsibility to report these events to your healthcare provider promptly. This survey does not replace the need to inform your healthcare provider of any medical concerns or adverse events.
Do I get to see other participants' responses?
The intention of this project is to represent the voice of the TK2d patient community as accurately as possible to as many stakeholders as possible. Partnering mitochondrial disease patient organizations will support the effort to share the results of the survey with the community at large once the project is completed.
You will be given the option to be contacted with a summary of the findings once the study has been completed.
Thank you for your participation.
Please share this website page with others in the TK2d community.
