Resolution of chronic idiopathic urticaria with setmelanotide in a patient with Bardet-Biedl Syndrome: A case report.

Haggerty K, Black J, Abeles R

Obesity pillars3 Nov 2025

PMID41333852PMCIDPMC12666839DOI10.1016/j.obpill.2025.100221PepBankPUB-41333852

Summary

IntroductionThis case describes the resolution of refractory chronic idiopathic urticaria (CIU) with setmelanotide in a patient with Bardet-Biedl Syndrome (BBS). While setmelanotide is approved for syndromic obesity, this report highlights a novel anti-inflammatory effect potentially mediated by melanocortin-4 receptor (MC4R) agonism, expanding current understanding of its immunomodulatory role in mast cell-mediated disease.Main symptoms and clinical findingsThe patient presented with lifelong hyperphagia and class III obesity beginning in childhood, along with multiple features fulfilling BBS clinical criteria: visual impairment with night vision difficulties, renal abnormalities with proteinuria, irregular menses with polycystic ovaries, and neurodevelopmental delay. She also reported refractory CIU with pruritic hives occurring several times weekly despite dual antihistamine therapy. On examination, BMI was 40.5 kg/m², and dermatologic evaluation confirmed recurrent hives unresponsive to standard treatment.DiagnosisGenetic testing revealed a heterozygous pathogenic BBS9 variant (c.1120C > T; p. Arg374∗), supporting a BBS diagnosis. Secondary causes of urticaria were excluded. Setmelanotide was initiated at 2 mg daily and titrated to 3 mg, leading to complete urticaria resolution within three weeks and cessation of antihistamines. Symptoms recurred during a brief treatment pause and resolved upon reinitiation, demonstrating a temporal association. Hyperphagia scores improved from 20 to 0, with significant quality-of-life gains. Adjunct phentermine 18.75 mg daily was later added to optimize appetite control. After ten months, urticaria remained in sustained remission, with only one isolated cold-induced episode.ConclusionSetmelanotide produced durable remission of refractory CIU in a patient with BBS, suggesting MC4R agonism may exert immunomodulatory effects beyond weight regulation. This finding underscores the broader potential of precision therapies for rare obesity syndromes to reveal new mechanisms of inflammation control.

CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study5

5 results from studies that gave the peptide. 5 results from people.

01HumanCase report or seriesEfficacy outcome
A patient with BBS had complete urticaria resolution within three weeks after starting setmelanotide.
In plain wordsA patient with BBS had no hives within three weeks after starting setmelanotide.
Peptide
Setmelanotide
Outcome
DecreaseUrticaria resolution
Study
n = 1
Outcome group
Skin and hair · Skin and wound
Studied dose
2 mg daily titrated to 3 mgAs given in this study (human).
Source sentences
Summary
Setmelanotide was initiated at 2 mg daily and titrated to 3 mg, leading to complete urticaria resolution within three weeks and cessation of antihistamines.
1 context sentence(design, population, supporting numbers)
Summary · context
This case describes the resolution of refractory chronic idiopathic urticaria (CIU) with setmelanotide in a patient with Bardet-Biedl Syndrome (BBS).
Show in the study text Report a problemFND-4133385201
02HumanCase report or seriesEfficacy outcome
A patient with BBS stopped antihistamines after urticaria resolved during setmelanotide treatment.
In plain wordsA patient with BBS stopped antihistamines after hives resolved during setmelanotide treatment.
Peptide
Setmelanotide
Outcome
DecreaseAntihistamine cessation
Study
n = 1
Outcome group
Skin and hair · Skin and wound
Studied dose
2 mg daily titrated to 3 mgAs given in this study (human).
Source sentences
Summary
Setmelanotide was initiated at 2 mg daily and titrated to 3 mg, leading to complete urticaria resolution within three weeks and cessation of antihistamines.
1 context sentence(design, population, supporting numbers)
Summary · context
This case describes the resolution of refractory chronic idiopathic urticaria (CIU) with setmelanotide in a patient with Bardet-Biedl Syndrome (BBS).
Show in the study text Report a problemFND-4133385202
03HumanCase report or seriesEfficacy outcome
A patient with BBS had urticaria recurrence during a setmelanotide pause and resolution after restarting treatment.
In plain wordsA patient's hives returned during a setmelanotide pause and disappeared after treatment restarted.
Peptide
Setmelanotide
Outcome
DecreaseUrticaria recurrence and rechallenge
Study
n = 1
Outcome group
Skin and hair · Skin and wound
Studied dose
Dose not stated
Source sentences
Summary
Symptoms recurred during a brief treatment pause and resolved upon reinitiation, demonstrating a temporal association.
1 context sentence(design, population, supporting numbers)
Summary · context
This case describes the resolution of refractory chronic idiopathic urticaria (CIU) with setmelanotide in a patient with Bardet-Biedl Syndrome (BBS).
Show in the study text Report a problemFND-4133385203
04HumanCase report or seriesEfficacy outcome
A patient with BBS had hyperphagia scores improve from 20 to 0 during setmelanotide treatment.
In plain wordsA patient with BBS had excessive-eating scores decrease from 20 to 0 during setmelanotide treatment.
Peptide
Setmelanotide
Outcome
DecreaseHyperphagia score
Study
n = 1
Outcome group
Appetite and food intake · Metabolic and weight
Studied dose
2 mg daily titrated to 3 mgAs given in this study (human).
Measurements
Hyperphagia score before improvement
20 score
Before improvement during setmelanotide treatment
Hyperphagia score after improvement
0 score
After improvement during setmelanotide treatment
Source sentences
Summary
Hyperphagia scores improved from 20 to 0, with significant quality-of-life gains.
1 context sentence(design, population, supporting numbers)
Summary · context
This case describes the resolution of refractory chronic idiopathic urticaria (CIU) with setmelanotide in a patient with Bardet-Biedl Syndrome (BBS).
Show in the study text Report a problemFND-4133385204
05HumanCase report or seriesEfficacy outcome
A patient with BBS had significant quality-of-life gains during setmelanotide treatment.
In plain wordsA patient with BBS reported better quality of life during setmelanotide treatment.
Peptide
Setmelanotide
Outcome
IncreaseQuality of life
Study
n = 1
Outcome group
Quality of life · Whole body
Studied dose
2 mg daily titrated to 3 mgAs given in this study (human).
Source sentences
Summary
Hyperphagia scores improved from 20 to 0, with significant quality-of-life gains.
1 context sentence(design, population, supporting numbers)
Summary · context
This case describes the resolution of refractory chronic idiopathic urticaria (CIU) with setmelanotide in a patient with Bardet-Biedl Syndrome (BBS).
Show in the study text Report a problemFND-4133385205

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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.

Version 2Current
28 Oct 2026, 02:03 UTC
Study results updated
Version 1
27 Oct 2026, 16:36 UTC
First added · source update from Europe PMC

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