Make an impact in progressing ADPKD research

Participate in the Aperture Study

Introducing the Aperture Study

The Aperture Study is an observational study being done to learn more about autosomal dominant polycystic kidney disease (ADPKD). ADPKD is a genetic disease most commonly caused by variations (changes in DNA) in genes called polycystic kidney disease 1 and 2 (PKD1 or PKD2). There are many variations in the PKD1 and PKD2 genes that can cause ADPKD. Researchers in this clinical study want to understand how often different variations happen and what symptoms they cause in adults and children.

All eligible participants may receive the following:

Genetic testing for PKD1 and PKD2
Study-related care and monitoring
A stipend for study-related time
Reimbursement for study-related meals, parking, and transportation

To be concise, please note that the term “you” refers to “you and/or your child” throughout this website.

What is genotyping?

Genotyping is the process of collecting and comparing different gene variations for a specific gene. Genes play an important role in how the body works. They carry information that makes us who we are and tell our cells how to perform the functions our bodies need to stay healthy.

Sometimes, when genes copy themselves, they don’t create an exact copy. The imperfectly copied gene is called a gene variation. Once a gene variation is created, it becomes a part of your DNA and can be passed on to your children.

Some gene variations can be harmful since changes in the gene’s instructions may change how a protein is made and create proteins that may not work properly. Learning more about the different types of gene variations is important for researchers who are developing potential new therapies.

With your help, we can advance our understanding of ADPKD

ADPKD is one of the most common inherited kidney disorders, affecting millions of people worldwide. However, with limited treatment options available, many patients progress into kidney failure and need life-saving care. Clinical research is the only way to develop new treatments and improve patient care. As we work to develop potential therapies for ADPKD, this clinical study is an important building block in that process. It will help us learn more about ADPKD genotypes to inform future research.

The Aperture Study involves 3 steps:

1. Screening

The study team will ask you questions about your ADPKD and review your medical history. If you’re eligible and choose to continue, you’ll sign an informed consent form (ICF).

2. Testing

At the same visit, the study doctor will take a blood sample for genotyping and send it to the research lab to be tested.

3. Results

After testing is complete, the study doctor will inform you of your results.

Who is eligible?

You may be eligible if:

You’re between the ages of 12 and 65
You’ve been diagnosed with ADPKD
You aren’t on or planning to begin kidney replacement therapy
You haven’t had a kidney transplant or nephrectomy

There are other eligibility requirements for this clinical study. The study team will discuss them with you in detail during the visit.

Opportunities for further research

If you have ADPKD caused by a subset of variants in PKD1, the study team may ask you to stay in the clinical study. In this part, you’ll have 3 additional visits with the study team, in person or remotely, to discuss your ADPKD symptoms and treatments. The study team may also contact you in the future if there are new Vertex clinical studies you may be eligible to participate in.

What is a clinical study?

Clinical studies must be approved by an institutional review board (IRB). An IRB is a group that is responsible for helping to protect the rights and welfare of study participants.

Frequently Asked Questions (FAQs)

Consider participating

All eligible participants may receive the following:

Genetic testing for PKD1 and PKD2
Study-related care and monitoring
A stipend for study-related time
Reimbursement for study-related meals, parking, and transportation

We need your help to learn more about ADPKD.
Find out now if you may be eligible for the Aperture Study.