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Study · Case report or series · n = 1 · 2025

3 results

Case Report: Improvement in cognitive functioning following setmelanotide initiation in a patient with Bardet-Biedl syndrome.

Kuk M, Richards J, Ross RA

Frontiers in endocrinology19 Sept 2025Cited by 1 (Europe PMC)

PMID41048439 (opens in a new tab)PMCIDPMC12491006 (opens in a new tab)DOI10.3389/fendo.2025.1646663 (opens in a new tab)PepBankPUB-41048439
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Summary

Bardet-Biedl syndrome (BBS) is a rare genetic condition that results from mutations in a variety of genes crucial for ciliary transport. Consequently, patients with BBS present with a wide array of clinical signs and symptoms that include multiple organ systems. In particular there is a high burden of metabolic disturbances, such as obesity, hyperphagia, and type 2 diabetes, due to the impaired leptin-melanocortin-4 receptor (MC4R) pathway that prevents appropriate activation of MC4R that is normally responsible for signaling hunger and satiety. As such, setmelanotide, an MC4R agonist, has been approved for use to target the obesity and hyperphagia experienced by patients with BBS. Here we report a case of a patient with BBS who was started on setmelanotide for weight management following her BBS diagnosis. One month following treatment initiation, the patient not only endorsed reduced appetite, but also demonstrated a significant improvement in cognitive and affective functioning, as noted in her mental status exam and her performance on the Wechsler Adult Intelligence Scale Fourth Edition (WAIS-IV) tests, when compared to results prior to starting setmelanotide. Although previous studies have reported improved quality of life measures in patients with BBS following setmelanotide initiation, this is the first report of improved cognitive and affective functioning following initiation of the medication, highlighting the need to assess the effects of setmelanotide beyond the metabolic domain in patients with BBS.
CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study3

3 results from studies that gave the peptide. 3 results from people.

  1. 01HumanCase report or seriesEfficacy outcome

    A patient with BBS reported reduced appetite one month after starting setmelanotide compared with before treatment.

    In plain wordsA patient with BBS reported less appetite one month after starting setmelanotide compared with before treatment.

    Peptide
    Setmelanotide
    Outcome
    DecreaseAppetite
    Study

    n = 1

    Outcome group
    Appetite and food intake · Metabolic and weight
    Studied dose
    Dose not stated

    Source sentences

    Summary
    One month following treatment initiation, the patient not only endorsed reduced appetite,
    1 context sentence
    Summary · context
    Here we report a case of a patient with BBS who was started on setmelanotide for weight management following her BBS diagnosis.
  2. 02HumanCase report or seriesEfficacy outcome

    A patient with BBS showed significantly improved cognitive functioning one month after starting setmelanotide compared with pretreatment assessments.

    In plain wordsA patient with BBS showed better thinking abilities one month after starting setmelanotide compared with before treatment.

    Peptide
    Setmelanotide
    Outcome
    Direction not reportedCognitive functioning
    Study

    n = 1

    Outcome group
    Cognition and memory · Nervous system and cognition
    Studied dose
    Dose not stated

    Source sentences

    Summary
    but also demonstrated a significant improvement in cognitive and affective functioning, as noted in her mental status exam and her performance on the Wechsler Adult Intelligence Scale Fourth Edition (WAIS-IV) tests, when compared to results prior to starting setmelanotide.
    1 context sentence
    Summary · context
    Here we report a case of a patient with BBS who was started on setmelanotide for weight management following her BBS diagnosis.
  3. 03HumanCase report or seriesEfficacy outcome

    A patient with BBS showed significantly improved affective functioning one month after starting setmelanotide compared with pretreatment assessments.

    In plain wordsA patient with BBS showed better emotional functioning one month after starting setmelanotide compared with before treatment.

    Peptide
    Setmelanotide
    Outcome
    Direction not reportedAffective functioning
    Study

    n = 1

    Comparator
    results prior to starting setmelanotide
    Outcome group
    Anxiety and mood · Mental health and mood
    Studied dose
    Dose not stated

    Source sentences

    Summary
    but also demonstrated a significant improvement in cognitive and affective functioning, as noted in her mental status exam and her performance on the Wechsler Adult Intelligence Scale Fourth Edition (WAIS-IV) tests, when compared to results prior to starting setmelanotide.
    1 context sentence
    Summary · context
    Here we report a case of a patient with BBS who was started on setmelanotide for weight management following her BBS diagnosis.

AI wrote and checked these results. AI can make mistakes, so check important results against the source.

Version history

PepBank keeps every version of the data on this study. Status changes from Retraction Watch, Europe PMC and Crossref are listed with their source.

  1. Version 2Current

    28 Oct 2026, 02:03 UTC

    Study results updated

  2. Version 1

    27 Oct 2026, 16:36 UTC

    First added · source update from Europe PMC

Subjects

Terms as the source lists them.

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