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FDA approves weight management drug for Bardet-Biedl syndrome studied at Marshfield Clinic Health System

June 24, 2022

MARSHFIELD – The U.S. Food and Drug Administration (FDA) has approved a chronic weight management drug for patients with the rare disease Bardet-Biedl syndrome (BBS). Marshfield Clinic Health System is the only health system in the nation that provides comprehensive care for patients with BBS.

​BBS is caused by a mutation in a number of different genes that affects the way the body's cells communicate with each other, ultimately affecting tissue growth during fetus development. The result includes organs that form in the wrong position internally, extra fingers and toes, impaired vision, kidney problems, obesity and developmental delays.

Marshfield Clinic has participated in several clinical trials with Rhythm Pharmaceuticals, a biopharmaceutical company aimed at developing and commercializing therapies for the treatment of rare genetic diseases of obesity. The FDA approved June 16 a supplemental indication for Imcivree (setmelanotide) injection for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to BBS. Setmelanotide is the first drug approved specifically for chronic weight management in patients with BBS, a rare genetic disease associated with early-onset childhood 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 insatiable hunger children with BBS experience can cause or exacerbate a host of health issues," said Jeremy Pomeroy, Ph.D., associate research scientist at Marshfield Clinic Research Institute's Bardet-Biedl Syndrome Center of Excellence. “Our patients who have used setmelanotide have seen significant weight loss and reduced hunger, alleviating one of the most significant burdens BBS causes to patients and their families."

In March 2017, Marshfield Clinic gave the first dose of setmelanotide for chronic weight management. Our body produces the hormone leptin that is important in telling our brain that we are full and do not need to eat. In those with BBS, leptin is unable to communicate with the part of the brain that controls appetite, which leads to hyperphagia – the unsatisfied drive to consume food. What this drug does is bypass that signal disruption. It then goes to the second messenger and transmits the signal to the brain to stop eating.

Marshfield Clinic Research Institute continued to lead the way by enrolling the most participants in the Rhythm-sponsored study and setting other landmarks such as enrolling the youngest participant.

“We are grateful for the Bardet-Biedl syndrome community and Marshfield Clinic Research Institute," said David Meeker, M.D., Chair, President and Chief Executive Officer of Rhythm. “The dedicated clinical staff and expert trial team have been essential in advancing the development of this new treatment option and sets an example for other hospitals and research centers looking to build patient-centered programs."

BBS affects fewer than 3,000 individuals in the U.S. Because it is so rare, BBS may not be recognized early. This may delay the start of treatment and support for at-risk families. BBS is inherited by both parents passing on one BBS gene to their child and evolves slowly throughout the first decade of life, although there is a lot of variability.

Under the direction of recently retired Robert Haws, M.D., the Center of Excellence for Bardet-Biedl Syndrome at Marshfield Clinic has become a renowned resource for BBS care and treatment. Patients from across the world come to Marshfield Clinic to see nephrologists, dieticians, dermatologists, ophthalmologists, cardiologists, psychologists and other specialties with extensive familiarity of BBS for comprehensive care and treatment for this disease.

“BBS is a complex, rare disease that most providers struggle to recognize," said Sonia Suda, coordinator, Center of Excellence for Bardet-Biedl syndrome. “Our familiarity with BBS allows Marshfield Clinic providers to provide individualized patient care while understanding the full spectrum of BBS." 

In addition, Marshfield Clinic Research Institute also is the home of the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS), the largest worldwide registry examining the long-term health of individuals with BBS. The mission of CRIBBS is to promote research that will improve the health and quality of life of individuals affected by BBS. The research team collects health information of individuals with BBS so it can be used in many scientific endeavors.

“For more than 100 years, Marshfield Clinic Health System's mission has focused on quality care and research," said Marshfield Clinic Research Institute Interim Executive Director Jennifer Meece, Ph.D. “Our comprehensive care and Bardet-Biedl syndrome research demonstrates the importance of those two objectives and how we can make a difference in these families' lives."

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​​​Marshfield Clinic Health System is an integrated health system whose mission is to enrich lives through accessible, affordable compassionate health care. The Health System serves Wisconsin and Michigan's Upper Peninsula with more than 1,600 providers comprising 170 specialties, health plan, and research and education programs. Primary operations include more than 60 Marshfield Clinic locations, 11 hospitals, Marshfield Children's Hospital, Marshfield Clinic Research Institute, Security Health Plan and Marshfield Clinic Health System Foundation. Learn more at marshfieldclinic.org.

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.

ADVERSE REACTIONS

  • 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.

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 Media Relations

John Gardner
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