About the study
This study involves members of a large New Zealand family with an inherited predisposition to a kidney condition called focal segmental glomerulosclerosis (FSGS). The gene that is affected is called TRPC6.
This family contributed to the discovery of this gene, via the paper below published in 2005.
If you are part of this family, you are invited to participate in this study to help us better understand and describe the range of clinical experiences in individuals who have inherited the TRPC6 gene variant. Your involvement will also enable us to seek genetic factors that modify the severity of disease within your family.
Please click the blue ‘Take the survey’ button below to begin the survey.
The start of the survey allows you to read more about the study and decide whether you consent to be involved before continuing with the rest of the survey.
Who is running the study
Researchers at the University of Otago, Christchurch, are running this study in collaboration with nephrologists from Te Whatu Ora Health New Zealand, Waitaha Canterbury and Southern Health.
The team is comprised of:
- Professor Martin Kennedy
- Dr Nick Cross
- Dr Frederiek Heenan-Vos
- PhD student Deb Paull
What difference can I make by participating?
Genetic studies often require years of dedicated research and rely heavily on the availability of accurate data. Volunteers are of crucial importance to help uncover more information about the mechanisms behind the variability of FSGS in your family.
Future medical or scientific discoveries may come from the research in which you participate. These discoveries may improve our understanding of genetic factors that influence presentation of FSGS in your family, and perhaps more widely in other families.
Some of the genetic factors we find may give us clues about normal kidney function, and other kidney diseases, so the findings may be of wider benefit.
What does the survey involve?
If you are eligible and choose to participate, we will ask you to fill in a survey online (or we can post you a hardcopy of the survey with return postage included).
We may ask you to supply us with a blood or saliva sample which we will use to extract your DNA and a urine sample for biomarker analysis. A caregiver or support person may help you complete the questionnaire if you feel you are not able.
I am ready to participate – what next?
- Complete the consent forms and survey
- After completing these forms, you will be contacted by the research team, and may be asked to provide a blood or saliva sample, as well as a urine sample at a later date
Study documents
- Download/preview a print version of the survey (PDF)
- Download/preview the Patient Information Sheet and Consent Form (PDF)
Contact us
You may find that your query is listed on our Frequently Asked Questions section below.
If you have further general queries about the study, please contact us.
Email umots@otago.ac.nz
Frequently asked questions
Who can participate in the Understanding Modifiers of TRPC6 Kidney Disease study?
Participants must be members of the TRPC6 family and aged 16 and over.
Why should I participate in the Understanding Modifiers of TRPC6 Kidney Disease study?
We want to investigate other genes that may be leading to the variability of the disease presentation in your family. To find meaningful results, research studies need a large number of participants so we would like to collect information from as many people within your family as possible.
Can I participate in the Understanding Modifiers of TRPC6 Kidney Disease study if I am living overseas?
Yes, if you live overseas, you can still be involved in the study. Please complete the survey, and the clinical members of our team will reach out to your local doctor.
Will I get paid for participating in the Understanding Modifiers of TRPC6 Kidney Disease study?
No, there is no payment for being involved in the study. However, we can compensate for costs you may incur by participating in this study.
Is the information I give you kept confidential?
Study participation is strictly confidential.
Will the saliva sample tell you about my ancestry or health?
The analysis we conduct on a participant’s saliva sample will not tell us the individual participants’ health status, ancestry or predict health outcomes. However, if we come across anything that is clinically significant, we will contact the clinical leads who will discuss these results with you.
Can I read the participant information sheet before I agree to take part?
Yes.
Download/preview the Patient Information Sheet and Consent Form (PDF)
Who has approved the study?
This study has been approved by an independent group of people called a Health and Disability Ethics Committee (HDEC), who check that studies meet established ethical standards. The Central Health and Disability Ethics Committee have approved this study - Ethics reference: 2024 EXP 15283.
The study has also been approved by the University of Otago, Christchurch Māori Health Advancement Committee.