Go-ID Genotyping

You or Your Child’s Obesity May Not be Your Fault—It May Be Genetic

ABOUT THE STUDY

The GO-ID Genotyping Study is looking at samples of people’s genes to see if they may have obesity from POMC or LepR deficiency. A DNA sample is taken by gently scraping the inside of the cheek. The results will help researchers develop better ways to identify patients with these disorders and potentially develop new treatments. While POMC and LepR genetic defects are very rare, researchers suspect many people have not yet been diagnosed.

WHAT ARE THE STUDY REQUIREMENTS?

To participate, you or your child should meet the following requirements:

  1. At least 2 years old
  2. Have been severely obese since you were very young (before age 6)
  3. Have constant severe hunger, also known as hyperphagia

The doctor will ask you [and your child] to fill out a survey about his or her hunger symptoms

HOW THE STUDY WORKS

Step 1: You will fill out a brief survey to see if you/your child qualify for the study

Step 2: If you qualify, a sample collection kit will be mailed to your home

Step 3: Once you receive the kit, there will be instructions on how to collect and send the
DNA sample back to the study lab

Step 4: Once the results are complete, You and your doctor will receive and discuss the
results.

WHY PARTICIPATE?

  • Participation is completely voluntary.
  • You will receive the results of your genetic testing at no cost.
  • Genetic testing may help you better understand the cause of obesity in you or your child.
  • Your/your child’s participation will help increase medical knowledge about POMC or LEPR deficiency.
  • Patients who test positive for POMC or LepR deficiency may be eligible to participate in future studies focused on understanding and treating childhood obesity.
  • You can help improve the diagnosis of genetic obesity.

Frequently Asked Questions

What causes severe obesity?

Some genetic disorders affect the chemicals, or hormones, in your body that control appetite and weight.
The hormones that normally make people feel full and keep them at a healthy weight may not be working
properly in your body. There are two rare but important genetic disorders that cause obesity in very young
children called POMC (pro-opiomelanocortin) deficiency and LepR (leptin receptor) deficiency.

Is there treatment for genetic obesity?

There are currently no treatments for POMC or LepR deficiency. More research is needed to better
understand them and help develop potential treatments.

What is a genetic disorder?

A genetic disorder is a disease that is caused when certain genes in your body don’t work the way they
should. This is sometimes called a genetic mutation.

What are clinical research studies?

Clinical studies (sometimes called clinical trials, clinical research, or intervention studies) are important
research tools for identifying new approaches to preventing, detecting, and treating diseases. Clinical
research advances medical knowledge.

Is my privacy protected?

Doctors and their staff respect your privacy. Details about your health will not be shared with anyone who
is not part of the research study unless you give your permission.

This study is brought to you by:
Rhythm
This program is supported by Rhythm, a Boston-based biopharmaceutical company developing the MC4R peptide agonist, setmelanotide (RM-493), for obesity caused by genetic deficiencies in the MC4 pathway.
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