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Real-World Effects of MC4R Agonist Therapy in BBS and Severe Genetic Obesity (REAL-MC4)

23. juni 2026 opdateret af: Tom Hühne

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

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.

Studieoversigt

Status

Rekruttering

Betingelser

Intervention / Behandling

Detaljeret beskrivelse

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.

Undersøgelsestype

Interventionel

Tilmelding (Anslået)

200

Fase

  • Fase 4

Kontakter og lokationer

Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.

Studiekontakt

Undersøgelse Kontakt Backup

Studiesteder

  • Tyskland
      • Essen, Tyskland, 45147
        • Rekruttering
        • University Hospital Essen, Deparment of Pediatrics II
        • Kontakt:

Deltagelseskriterier

Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.

Berettigelseskriterier

Aldre berettiget til at studere

  • Barn
  • Voksen
  • Ældre voksen

Tager imod sunde frivillige

Ingen

Beskrivelse

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

Studieplan

Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

  • Primært formål: Behandling
  • Tildeling: N/A
  • Interventionel model: Enkelt gruppeopgave
  • Maskning: Ingen (Åben etiket)

Våben og indgreb

Deltagergruppe / Arm
Intervention / Behandling
Eksperimentel: MC4R Therapy
Patients receiving approved MC4 receptor agonists according to licensed indications and routine clinical practice.
Medicin: Setmelanotide
Administration according to approved product labeling and treating physician discretion

Hvad måler undersøgelsen?

Primære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
Tidsramme
Percent change in BMI z-score
Tidsramme: Baseline to 12/24/36/48/60/72 months
Relative change in BMI z-Score after initiation of MC4 receptor agonist therapy
Baseline to 12/24/36/48/60/72 months
Impact on lipid profile
Tidsramme: Baseline to 12/24/36/48/60/72 months
Changes in lipid profile measured by cholesterol blood levels
Baseline to 12/24/36/48/60/72 months
Change in Hepatic Fat Attenuation
Tidsramme: Baseline to 12/24/36/48/60/72 months
Hepatic Fat Attenuation will be measured by ultrasound Attenuation imaging across different time points
Baseline to 12/24/36/48/60/72 months

Sekundære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
Tidsramme
Life quality
Tidsramme: Baseline to 12/24/36/48/60/72 months
Patient-reported quality of life using e.g. the "Impact of weight on Quality of life"-questionnaire (IWQOL). The assessment is based on a scale from 0 to 100, with 100 representing the best possible weight-related quality of life.
Baseline to 12/24/36/48/60/72 months
Safety and Tolerability
Tidsramme: Baseline to 12/24/36/48/60/72 months
Incidence of adverse events, serious adverse events and treatment discontinuations and reasons for it
Baseline to 12/24/36/48/60/72 months
Cognitive changes
Tidsramme: Baseline to 12/24/36/48/60/72 months
Neurocognitive impairment is common in Bardet-Biedl Syndrome. Wechsler Intelligence Scale for Children - Fourth Edition (WISC-IV) for children and Wechsler Adult Intelligence Scale (WAIS) for adults are performed to investigate cognition before and after intervention.
Baseline to 12/24/36/48/60/72 months
Functional brain connectivity
Tidsramme: Baseline to 12/24/36/48/60/72 months
Newly diagnosed patients undergo non-invasive functional magnetic resonance imaging (fMRI) both prior to treatment initiation and three months afterward. The scanning protocol will include structural T1-weighted MRI sequences (8 minutes), resting-state fMRI (4 runs of 5.5 minutes each; 22 minutes total), and task-based fMRI to assess responses to high- and low-fat food cues (2 runs of 5.5 minutes each; 11 minutes total). The imaging component will enable the investigation of treatment-related changes in functional brain connectivity associated with setmelanotide.
Baseline to 12/24/36/48/60/72 months
Changes on hypothalamic-pituitary-gonadal axis
Tidsramme: Baseline to 12/24/36/48/60/72 months
Hypothalamic-pituitary-gonadal axis is investigated by longitudinal measurements of testosterone and estradiol levels in blood.
Baseline to 12/24/36/48/60/72 months

Samarbejdspartnere og efterforskere

Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.

Sponsor

Tom Hühne

Samarbejdspartnere

Rhythm Pharmaceuticals, Inc.

Efterforskere

  • Ledende efterforsker: Metin Cetiner, PD Dr. med., Universitätsmedizin Essen

Publikationer og nyttige links

Den person, der er ansvarlig for at indtaste oplysninger om undersøgelsen, leverer frivilligt disse publikationer. Disse kan handle om alt relateret til undersøgelsen.

Generelle publikationer

Hjælpsomme links

Datoer for undersøgelser

Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.

Studer store datoer

Studiestart (Faktiske)

1. januar 2023

Primær færdiggørelse (Anslået)

31. december 2030

Studieafslutning (Anslået)

31. december 2030

Datoer for studieregistrering

Først indsendt

16. juni 2026

Først indsendt, der opfyldte QC-kriterier

23. juni 2026

Først opslået (Faktiske)

29. juni 2026

Opdateringer af undersøgelsesjournaler

Sidste opdatering sendt (Faktiske)

29. juni 2026

Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier

23. juni 2026

Sidst verificeret

1. juni 2026

Mere information

Begreber relateret til denne undersøgelse

Nøgleord

Yderligere relevante MeSH-vilkår

Andre undersøgelses-id-numre

  • UME-BBS-RWD-001

Plan for individuelle deltagerdata (IPD)

Planlægger du at dele individuelle deltagerdata (IPD)?

UBESLUTET

IPD-planbeskrivelse

Due to the nature of the study population (pediatric/vulnerable) and consent limitations, sharing of de-identified IPD is not planned at this time. Requests for data access may be considered on a case-by-case basis.

Lægemiddel- og udstyrsoplysninger, undersøgelsesdokumenter

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Ingen

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Ingen

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Kliniske forsøg med Alstrom syndrom

Kliniske forsøg med Setmelanotide

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Betingelser

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Placeringer

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