PreventionGenetics Receives FDA Approval for its Companion Diagnostic Genetic Test as a Class II Medical Device
MARSHFIELD, Wis., June 30, 2022 – PreventionGenetics, an Exact Sciences company, announced today that it was recently granted marketing authorization for the POMC/PCSK1/LEPR companion diagnostic (CDx) genetic test as a Class II device by the Center for Devices and Radiological Health (CDRH), a division of the Food and Drug Administration (FDA). Developed in collaboration with Rhythm Pharmaceuticals, Inc., the test is the first FDA-authorized Class II molecular companion diagnostic device.
The need for a diagnostic test to confirm variants in POMC, PCSK1 or LEPR genes that are interpreted as pathogenic, likely pathogenic, or of uncertain significance (VUS) has been added to the label for IMCIVREE® (setmelanotide), a product marketed by Rhythm Pharmaceuticals that was approved by the FDA in 2020 for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to POMC, PCSK1 or LEPR deficiency.
There is an important distinction between general obesity—a multifactorial condition influenced by multiple genes and environmental factors—and diseases of obesity caused by single-gene variants (monogenic).1 Like many other genetic disorders, monogenic obesity is extremely rare, with a prevalence of less than 4% in individuals with early onset obesity.2,3 Identifying these patients through genetic testing allows them to be matched with a targeted therapy, helping to provide relief for an otherwise debilitating condition.
“We’re proud to play a part in identifying people with severe obesity who may benefit from taking IMCIVREE, the first FDA approved therapy for people with severe obesity potentially caused by certain genetic deficiencies,” said Eric Bend, PhD, FACMG, Associate Laboratory Director at PreventionGenetics.
IMCIVREE is not indicated for the treatment of patients with obesity due to suspected POMC, PCSK1 or LEPR deficiency with POMC, PCSK1 or LEPR variants classified as benign or likely benign, or other types of obesity not related to POMC, PCSK1 or LEPR deficiency, or other approved indications, including obesity associated with other genetic syndromes and general (polygenic) obesity.
In clinical trials, IMCIVREE was generally well-tolerated. Disturbance in sexual arousal, depression and suicidal ideation, increased skin pigmentation and darkening of pre-existing nevi, and benzyl alcohol toxicity in neonates and low birth-weight infants may occur. The most common adverse reactions were skin hyperpigmentation, injection site reactions and nausea.
The POMC/PCSK1/LEPR companion diagnostic (CDx) genetic test is for in vitro diagnostic use only and must be ordered by a qualified professional in accordance with clinical laboratory regulations. For more information on PreventionGenetics and the Companion Diagnostic test, visit https://www.preventiongenetics.com/sponsoredTesting/Rhythm/CDX.
IMCIVREE® (setmelanotide) Indication
In the United States, IMCIVREE is indicated for chronic weight management in adult and pediatric patients 6 years of age and older with monogenic or syndromic obesity due to:
• Pro-opiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1) or leptin receptor (LEPR) deficiency as determined by an FDA-approved test demonstrating variants in POMC, PCSK1 or LEPR genes that are interpreted as pathogenic, likely pathogenic, or of uncertain significance (VUS)
• Bardet-Biedl syndrome (BBS)
Limitations of Use
IMCIVREE is not indicated for the treatment of patients with the following conditions as IMCIVREE would not be expected to be effective:
• Obesity due to suspected POMC, PCSK1 or LEPR deficiency with POMC, PCSK1 or LEPR variants classified as benign or likely benign
• Other types of obesity not related to POMC, PCSK1 or LEPR deficiency, or BBS, including obesity associated with other genetic syndromes and general (polygenic) obesity
WARNINGS AND PRECAUTIONS
Disturbance in Sexual Arousal: Spontaneous penile erections in males and sexual adverse reactions in females have occurred. Inform patients that these events may occur and instruct patients who have an erection lasting longer than 4 hours to seek emergency medical attention.
Depression and Suicidal Ideation: Depression and suicidal ideation have occurred. Monitor patients for new onset or worsening depression or suicidal thoughts or behaviors. Consider discontinuing IMCIVREE if patients experience suicidal thoughts or behaviors, or clinically significant or persistent depression symptoms occur.
Skin Pigmentation and Darkening of Pre-existing Nevi: Generalized increased skin pigmentation and darkening of pre-existing nevi have occurred. Perform a full body skin examination prior to initiation and periodically during treatment to monitor pre-existing and new pigmentary lesions.
Risk of Serious Adverse Reactions Due to Benzyl Alcohol Preservative in Neonates and Low Birth Weight Infants: IMCIVREE is not approved for use in neonates or infants. Serious and fatal adverse reactions including “gasping syndrome” can occur in neonates and low birth weight infants treated with benzyl alcohol-preserved drugs.
• The most common adverse reactions (incidence ≥20%) included skin hyperpigmentation, injection site reactions, nausea, headache, diarrhea, abdominal pain, vomiting, depression, and spontaneous penile erection.
USE IN SPECIFIC POPULATIONS
Treatment with IMCIVREE is not recommended when breastfeeding. Discontinue IMCIVREE when pregnancy is recognized unless the benefits of therapy outweigh the potential risks to the fetus. To report SUSPECTED ADVERSE REACTIONS, contact Rhythm Pharmaceuticals at 833-789-6337 or FDA at 1-800-FDA-1088 or www.fda.gov/medwatch.
Please see the full Prescribing Information for additional Important Safety Information.