Rhythm Offers Free Genetic Testing in U.S. to People Suspected of Genetic Obesity

Ana Pena, PhD avatar

by Ana Pena, PhD |

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Rhythm Pharmaceuticals is offering a free genetic testing program —  Uncovering Rare Obesity — to help individuals with severe obesity find out if there is a genetic cause for their excess weight.

The program is available in the U.S., and includes free genetic testing, which can be taken in a doctor’s office or at home, and access to two genetic counseling sessions.

“Rhythm has several initiatives designed to advance the understanding of genetic causes of severe obesity, and Uncovering Rare Obesity broadens these efforts and brings access to genetic testing into the community setting,” Rhythm CEO Keith Gottesdiener, MD, said in a press release.

The program is intended for people affected by severe obesity who suspect the cause for the problem goes beyond diet and lifestyle. Primary symptoms of a genetic disorder of obesity include insatiable appetite, weight gain while on a diet and exercise, and early onset of severe obesity.

To qualify for the test, children and teens age 2 to 18 must have a body mass index (BMI) in the 97th percentile or more, while adults 19 or older must have a BMI of 40 or more and a history of childhood obesity before age 10.

To analyze the results, Rhythm is partnering with PreventionGenetics, a laboratory certified by the Clinical Laboratory Improvement Amendments (CLIA). Licensed genetic counselors from PWN Health, also will be available to advise participants before and after they take the test.

The program covers the cost of the test, but excludes office visit, copay, sample collection, and other related costs.

“Currently available physician-ordered genetic testing panels are often cost prohibitive, while many consumer genetic tests are incomplete when it comes to genetic disorders of obesity. This makes it difficult to confirm an underlying genetic cause of severe obesity,” said Ethan Lazarus, MD, from the Clinical Nutrition Center and the Obesity Medicine Association in Denver, Colorado.

“Rhythm’s Uncovering Rare Obesity program is an important step in the understanding of these disorders that might help patients and their families find new diagnosis and treatment strategies in the years ahead,” he added.

Obesity is an epidemic in the U.S. and Rhythm is focused on identifying rare obesity cases caused by genetic variants and finding new treatments for such disorders.

Rare genetic disorders of obesity typically arise due to genetic variants that interrupt signals in the melanocortin-4 receptor (MC4R) pathway, which plays a vital role in controlling hunger and energy balance (how many calories we consume and how many we burn).

Rhythm has several clinical trials underway to test its lead investigational therapy — setmelanotide (RM-493) — for many of these disorders.

One, is a Phase 2 basket trial (NCT03013543) evaluating setmelanotide for people with POMC deficiency, LEPR deficiency, Bardet-Biedl syndrome, Alström syndrome, and Smith-Magenis Syndrome — all obesity disorders linked to MC4R pathway.

Others include a Phase 3 trial testing the agent’s effectiveness for Bardet-Biedl syndrome and Alström syndrome (NCT03746522), a Phase 3 trial for LEPR Deficiency (NCT03287960), and a Phase 2/3 trial for POMC deficiency (NCT02896192). All trials are currently enrolling patients.

“Uncovering Rare Obesity complements and adds to our growing program of sequencing and patient identification initiatives such as the GO-ID genotyping study, TEMPO Registry, ongoing collaborations with biobanks and our Phase 2 basket study,” Gottesdiener said.

More information about Rhythm’s new genetic testing program may be reviewed here.

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