ClinicalTrials.gov record NCT07674290

Real-World Effects of MC4R Agonist Therapy in BBS and Severe Genetic Obesity

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Aug 22, 2026

Real-World Effectiveness, Safety and Patient-reported Outcomes of Setmelanotide in Patients With Bardet-Biedl Syndrome: A Prospective Mono Centric Observational Interventional Study

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
PhasePhase 4A study of a treatment that is already approved, to learn more about its long-term effects, safety or use in everyday practice.
SexAll
LocationGermany
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This Phase 4, single-group interventional study follows people with Bardet‑Biedl syndrome or Alstrom Syndrome who are treated with an approved MC4R agonist (setmelanotide) in routine care. It collects clinical, laboratory, and patient-reported data over time to track weight, metabolic measures, cognition, quality of life, adherence, and adverse events. Follow-up of outcomes is planned for up to 72 months.

What it is studying. The study is testing how setmelanotide (an MC4R agonist) is used and performs in routine clinical practice. It aims to record safety, changes in weight and BMI, metabolic markers (such as lipids and liver fat), cognitive measures, and patient-reported quality of life and treatment persistence when the drug is given according to approved labeling.

What the researchers hope to learn. To describe real-world effectiveness and safety of MC4R agonist therapy in people with BBS and Alstrom Syndrome; to document metabolic, hepatic, cognitive, and quality-of-life outcomes, treatment adherence, and adverse events; and to create a data platform that can include future approved MC4R agonists.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

Bardet-Biedl syndrome (BBS) and other rare disorders associated with impairment of the melanocortin-4 receptor (MC4R) pathway are characterized by severe early-onset obesity, hyperphagia, and substantial morbidity. Setmelanotide, an MC4R agonist, is approved in Europe for selected genetic obesity disorders and reimbursed in Germany for eligible patients. This study aims to evaluate the effectiveness, safety, treatment persistence, metabolic outcomes, and patient-reported outcomes of Setmelanotide under real-world conditions. The registry is designed to allow future inclusion of additional MC4R agonists as they become approved and clinically available. The study will primarily be conducted at University Hospital Essen and will collect longitudinal routine clinical data from pediatric and adult patients receiving MC4R agonist therapy according to approved indications.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Drug
  • Setmelanotide

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • clinical phenotype corresponding to Bardet-Biedl Syndrome
  • genetic testing with notable finding

Exclusion criteria

  • patients younger than the age approved for treatment with setmelanotide

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

The MC4R signaling pathway is a key regulator of appetite and energy balance. Genetic defects affecting this pathway lead to severe obesity syndromes including Bardet-Biedl syndrome and other rare monogenic obesity disorders. Although pivotal clinical trials demonstrated efficacy of Setmelanotide, evidence from routine clinical care remains limited. This study seeks to characterize treatment outcomes in everyday clinical practice, including changes in body weight, BMI, hyperphagia, metabolic parameters, quality of life, treatment adherence, and adverse events. Patients receiving approved MC4R agonist therapy will be followed prospectively. Data will be collected during routine outpatient visits and include anthropometric, clinical, laboratory, and patient-reported measures. The study infrastructure is intended to serve as a platform for future MC4R agonists approved for severe genetic obesity disorders.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants receive MC4R agonist therapy (setmelanotide) as prescribed by their doctor while the study collects routine clinical data over time (follow-up may extend up to 72 months). Data collected during outpatient visits include measurements of weight/BMI, laboratory tests (for lipids and hormones), liver ultrasound imaging (hepatic fat attenuation), and patient-reported questionnaires about quality of life and hyperphagia. Some participants (newly diagnosed) will be asked to have brain MRI including resting-state and task-based fMRI before treatment and about three months after; cognitive testing (WISC-IV for children or WAIS for adults) will be performed before and after treatment. The study also records adverse events, treatment adherence, and other routine clinical information.

How the study is structured. Phase 4, interventional, single-group, non-masked study. Participants already prescribed an approved MC4R agonist receive treatment per their physician and approved product labeling. The study prospectively collects routine clinical data during outpatient visits, including measurements of weight/BMI, laboratory tests, questionnaires about quality of life and hyperphagia, and selected assessments such as cognitive testing; newly diagnosed patients may have non-invasive fMRI before treatment and at three months. Outcomes are tracked over time, with data points scheduled up to 72 months.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The listed sites are in Germany. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Alström syndrome

This trial is also listed on this site under Bardet-Biedl syndrome.

Clinical trials3 trials listed for Alström syndromeEvery trial the registry lists for Alström syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Alström syndrome researchLatest monthly update: September 2026. Includes: Deep belly fat cells. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jan 1, 2023
Primary completion
Dec 31, 2030 (estimated)
Study completion
Dec 31, 2030 (estimated)
Target enrollment
200 participants (estimated)
Last updated on registry
Jun 29, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Tom Hühne
Collaborators
  • Rhythm Pharmaceuticals, Inc.

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
adverse events
Any unwanted medical problem that happens during a study, whether or not it was caused by the treatment. A 'serious' adverse event is one that meets specific criteria, such as causing death, being life-threatening, requiring or prolonging hospital admission, causing significant disability, or another medically important outcome.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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