Active not recruitingOBSERVATIONAL

Polycystic Kidney Disease 1 (PKD1) Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease

This research is looking at Autosomal Dominant Polycystic Kidney Disease (ADPKD), a common inherited kidney condition. Specifically, it's studying variations in two genes called PKD1 and PKD2. The main goal is to find out how often different genetic variations occur within the ADPKD patient population. Researchers also want to see if these gene variations are linked to different characteristics of the disease, such as how severe it is or how it affects people of different backgrounds. This information could help us better understand ADPKD and potentially lead to more personalised ways of managing the condition in the future.

At a glance

Status

Active not recruiting

Sponsor

Vertex Pharmaceuticals Incorporated

Enrolment target

401

Start

19 Dec 2024

Estimated completion

31 Dec 2026

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

What is this study about?

This study is focused on a common inherited kidney condition called Autosomal Dominant Polycystic Kidney Disease, or ADPKD. If you have ADPKD, cysts (fluid-filled sacs) grow in your kidneys, which can eventually affect how well your kidneys work. The condition is caused by changes in specific genes, mainly PKD1 and PKD2. This study aims to get a clearer picture of these genetic changes.

The researchers want to understand how common different variations of the PKD1 and PKD2 genes are in people with ADPKD. They also want to see if different gene variations are linked to particular features of the disease, such as a person's age, gender, or how their kidneys are affected. For example, some gene changes might lead to the disease progressing more quickly than others.

By gathering this information, scientists hope to build a more detailed understanding of ADPKD. This could be very helpful because it might lead to better ways to predict how ADPKD will affect an individual, and potentially, to more tailored treatments in the future. It's about personalising our approach to managing ADPKD based on a person's specific genetic makeup.

Key takeaways

This study is about understanding the genetic causes of ADPKD.
It aims to identify different gene variations (PKD1/PKD2) and how they affect the disease.
Participation involves sharing existing medical information, no new treatments.
It could help doctors better predict and manage ADPKD in the future.
You need to be aged 12-65 with a confirmed ADPKD diagnosis.
Your kidney function and health history will be checked for eligibility.

Who may be eligible?

To take part in this study, you generally need to be between 12 and 65 years old and have a confirmed diagnosis of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Your kidney function, as measured by a test called eGFR, should be at a certain level or better. You also need to be willing to come for all the scheduled study appointments and follow the study instructions.

There are some reasons why you might not be able to join. For example, if you have other kidney problems that aren't ADPKD, or if you've had an organ transplant. You also can't be taking part if you are currently on kidney dialysis or expecting to start it within the next year. The study team will review all your medical information carefully to make sure it's safe and appropriate for you to participate.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you between 12 and 65 years old?
Do you have a diagnosis of Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
Is your kidney function (eGFR) at an acceptable level, as assessed by a doctor?
Are you able and willing to attend any scheduled appointments?
Have you avoid organ or bone marrow transplants?
Are you currently not on kidney dialysis and not expecting to start within 12 months?

Answer every question to see your result.

What does participation involve?

This study is focused on collecting information and doesn't involve any new medicines or treatments. If you take part, you would primarily be sharing your existing medical information related to ADPKD with the study team. This would likely involve a visit where your health details are gathered and reviewed, especially regarding your ADPKD diagnosis and kidney function over time. The exact number of visits or assessments isn't fully detailed, but it is important that you are able to attend any scheduled appointments. As this study is observational, there wouldn't be ongoing medication to take or long-term follow-up beyond the initial data collection. The total duration of your direct involvement would be relatively short, likely a single visit.

Potential risks and benefits

As this study mainly involves gathering and analysing existing medical information, the direct risks are very low. There are no new medications or procedures involved. Your personal information would be kept confidential. Regarding benefits, while you wouldn't directly benefit from participating, your contribution helps researchers better understand ADPKD. This understanding is crucial for developing better ways to manage and treat the condition for people in the future. Remember, taking part in any study is entirely voluntary, and you have the right to withdraw at any time without giving a reason.

Locations (45)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Alabama Kidney Research
Verified postcode
Alabaster, United States
University of Alabama at Birmingham- Nephrology Research Clinic
Verified postcode
Birmingham, United States
Kaiser Permanente - Los Angeles Medical Center
Verified postcode
Los Angeles, United States
UCLA Division of Nephrology
Verified postcode
Los Angeles, United States
Helen Diller Medical Center at Parnassus Heights
Verified postcode
San Francisco, United States
Nephrology & Hypertension Associates, PC
Verified postcode
Middlebury, United States
Yale Nephrology Clinical Research Clinic
Verified postcode
New Haven, United States
Nature Coast Clinical Research - Inverness
Verified postcode
Inverness, United States
Mayo Clinic - Jacksonville
Verified postcode
Jacksonville, United States
Emory School of Medicine - Renal Division
Verified postcode
Atlanta, United States
Renal Associates, LLC
Verified postcode
Columbus, United States
UChicago Medicine - Duchossois Center for Advanced Medicine - Nephrology
Verified postcode
Chicago, United States

Common questions

What is ADPKD?

ADPKD stands for Autosomal Dominant Polycystic Kidney Disease. It's an inherited condition where fluid-filled sacs (cysts) begin to grow in the kidneys, which can cause them to become very large and affect kidney function over time.

What does a 'gene variant' mean?

A gene variant is a slightly different version of a gene. We all have small differences in our genes, and some of these differences can lead to conditions like ADPKD.

Will I receive a new treatment in this study?

No, this study is about understanding the disease through genetic information and existing medical records. It does not involve any new treatments or medications.

How will my personal information be handled?

Your personal information will be kept confidential and handled according to strict privacy rules to protect your identity.

What is eGFR?

eGFR stands for 'estimated glomerular filtration rate.' It's a blood test result that doctors use to estimate how well your kidneys are filtering waste from your blood.