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Study · Case report or series · n = 2 · 2026

11 results

Setmelanotide Response Variability in Two Genetically Confirmed Pediatric Kidney Transplant Recipients with Bardet-Biedl Syndrome.

Kondou A, Siolos P, Sotiriou G, Agakidis C, Dotis J, Christoforidis A, Printza N

International journal of molecular sciences29 Aug 2026

PMID42737637 (opens in a new tab)PMCIDPMC13566516 (opens in a new tab)DOI10.3390/ijms27177740 (opens in a new tab)PepBankPUB-42737637
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Summary

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy associated with hyperphagic obesity and kidney disease. Evidence on setmelanotide after pediatric kidney transplantation is limited. We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data. Patient 1, a 17-year-old boy with a homozygous pathogenic SDCCAG8 exon deletion, improved over 12 months: weight 55.6 to 48.0 kg, BMI 26.6 to 23.0 kg/m2, BMI-for-age z-score +1.60 to +0.43, maximal-hunger score 8/10 to 5/10, and HbA1c 6.5% to 5.1%. Patient 2, an 8-year-old girl with a homozygous likely pathogenic BBS5 splice-site variant and a heterozygous PCSK1 N221D variant, showed reduced hunger and an initial z-score fall from +6.10 to +5.69 by month 2.5, meeting the 0.2-point threshold for clinically meaningful change; this was not sustained, and BMI rose from 38.0 to 42.7 kg/m2 by eight months despite a dose of 3 mg/day. Graft function and cyclosporine trough concentrations remained stable, and skin hyperpigmentation was the only treatment-related adverse effect. In these two patients, setmelanotide was not associated with graft deterioration or altered cyclosporine trough concentrations, although two cases cannot establish safety. The divergent trajectories highlight interindividual variability; the role of PCSK1 N221D remains uncertain, and these observations are hypothesis-generating.
CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study11

11 results from studies that gave the peptide. 11 results from people.

  1. 01HumanCase report or seriesSafety outcome

    In two children with BBS after kidney transplantation, graft function remained stable during setmelanotide treatment.

    In plain wordsIn two children with BBS after kidney transplantation, graft function remained stable during setmelanotide treatment.

    Peptide
    Setmelanotide
    Outcome
    No significant changeGraft function
    Study

    n = 2

    Comparator
    Pretreatment
    Outcome group
    Kidney function · Kidney and urinary
    Studied dose
    Dose not stated

    Source sentences

    Summary
    Graft function and cyclosporine trough concentrations remained stable, and skin hyperpigmentation was the only treatment-related adverse effect.
    1 context sentence
    Summary · context
    We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data.
  2. 02HumanCase report or seriesPharmacokinetics

    In two children with BBS after kidney transplantation, cyclosporine trough concentrations remained stable during setmelanotide treatment.

    In plain wordsIn two children with BBS after kidney transplantation, cyclosporine trough concentrations remained stable during setmelanotide treatment.

    Peptide
    Setmelanotide
    Outcome
    No significant changeCyclosporine trough concentrations
    Study

    n = 2

    Comparator
    Pretreatment
    Outcome group
    Pharmacokinetics · Pharmacology
    Studied dose
    Dose not stated

    Source sentences

    Summary
    Graft function and cyclosporine trough concentrations remained stable, and skin hyperpigmentation was the only treatment-related adverse effect.
    1 context sentence
    Summary · context
    We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data.
  3. 03HumanCase report or seriesSafety outcome

    In children with BBS after kidney transplantation, skin hyperpigmentation was the only treatment-related adverse effect reported with setmelanotide.

    In plain wordsIn children with BBS after kidney transplantation, skin darkening was the only reported treatment-related adverse effect of setmelanotide.

    Peptide
    Setmelanotide
    Outcome
    Not applicableSkin hyperpigmentation
    Study

    n = 2

    Outcome group
    Pigmentation · Skin and wound
    Studied dose
    Dose not stated

    Source sentences

    Summary
    Graft function and cyclosporine trough concentrations remained stable, and skin hyperpigmentation was the only treatment-related adverse effect.
    1 context sentence
    Summary · context
    We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data.
  4. 04HumanCase report or seriesEfficacy outcome

    In a boy with BBS after kidney transplantation, weight decreased from 55.6 to 48.0 kg over 12 months with setmelanotide.

    In plain wordsIn a boy with BBS after kidney transplantation, weight decreased from 55.6 to 48.0 kg during setmelanotide treatment.

    Peptide
    Setmelanotide
    Outcome
    DecreasePatient 1 weight
    Study

    n = 1

    Comparator
    Pretreatment
    Outcome group
    Body weight · Metabolic and weight
    Studied dose
    Dose not stated

    Measurements

    Weight
    55.6 kg
    Patient 1, initial value
    Weight
    48 kg
    Patient 1, value after 12 months

    Source sentences

    Summary
    Patient 1, a 17-year-old boy with a homozygous pathogenic SDCCAG8 exon deletion, improved over 12 months: weight 55.6 to 48.0 kg, BMI 26.6 to 23.0 kg/m2, BMI-for-age z-score +1.60 to +0.43, maximal-hunger score 8/10 to 5/10, and HbA1c 6.5% to 5.1%.
    1 context sentence
    Summary · context
    We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data.
  5. 05HumanCase report or seriesEfficacy outcome

    In a boy with BBS after kidney transplantation, BMI decreased from 26.6 to 23.0 kg/m² over 12 months with setmelanotide.

    In plain wordsIn a boy with BBS after kidney transplantation, BMI decreased from 26.6 to 23.0 kg/m² during setmelanotide treatment.

    Peptide
    Setmelanotide
    Outcome
    DecreasePatient 1 BMI
    Study

    n = 1

    Comparator
    Pretreatment
    Outcome group
    Body weight · Metabolic and weight
    Studied dose
    Dose not stated

    Measurements

    BMI
    26.6 kg/m²
    Patient 1, initial value
    BMI
    23 kg/m²
    Patient 1, value after 12 months

    Source sentences

    Summary
    Patient 1, a 17-year-old boy with a homozygous pathogenic SDCCAG8 exon deletion, improved over 12 months: weight 55.6 to 48.0 kg, BMI 26.6 to 23.0 kg/m2, BMI-for-age z-score +1.60 to +0.43, maximal-hunger score 8/10 to 5/10, and HbA1c 6.5% to 5.1%.
    1 context sentence
    Summary · context
    We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data.
  6. 06HumanCase report or seriesEfficacy outcome

    In a boy with BBS after kidney transplantation, BMI-for-age z-score decreased from +1.60 to +0.43 over 12 months with setmelanotide.

    In plain wordsIn a boy with BBS after kidney transplantation, BMI-for-age z-score decreased from +1.60 to +0.43 during setmelanotide treatment.

    Peptide
    Setmelanotide
    Outcome
    DecreasePatient 1 BMI-for-age z-score
    Study

    n = 1

    Comparator
    Pretreatment
    Outcome group
    Body weight · Metabolic and weight
    Studied dose
    Dose not stated

    Measurements

    BMI-for-age z-score
    1.6 z-score
    Patient 1, initial value
    BMI-for-age z-score
    0.43 z-score
    Patient 1, value after 12 months

    Source sentences

    Summary
    Patient 1, a 17-year-old boy with a homozygous pathogenic SDCCAG8 exon deletion, improved over 12 months: weight 55.6 to 48.0 kg, BMI 26.6 to 23.0 kg/m2, BMI-for-age z-score +1.60 to +0.43, maximal-hunger score 8/10 to 5/10, and HbA1c 6.5% to 5.1%.
    1 context sentence
    Summary · context
    We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data.
  7. 07HumanCase report or seriesEfficacy outcome

    In a boy with BBS after kidney transplantation, maximal-hunger score decreased from 8/10 to 5/10 over 12 months with setmelanotide.

    In plain wordsIn a boy with BBS after kidney transplantation, hunger score decreased from 8/10 to 5/10 during setmelanotide treatment.

    Peptide
    Setmelanotide
    Outcome
    DecreasePatient 1 maximal hunger
    Study

    n = 1

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

    Measurements

    Maximal-hunger score
    8 score out of 10
    Patient 1, initial value
    Maximal-hunger score
    5 score out of 10
    Patient 1, value after 12 months

    Source sentences

    Summary
    Patient 1, a 17-year-old boy with a homozygous pathogenic SDCCAG8 exon deletion, improved over 12 months: weight 55.6 to 48.0 kg, BMI 26.6 to 23.0 kg/m2, BMI-for-age z-score +1.60 to +0.43, maximal-hunger score 8/10 to 5/10, and HbA1c 6.5% to 5.1%.
    1 context sentence
    Summary · context
    We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data.
  8. 08HumanCase report or seriesEfficacy outcome

    In a boy with BBS after kidney transplantation, HbA1c decreased from 6.5% to 5.1% over 12 months with setmelanotide.

    In plain wordsIn a boy with BBS after kidney transplantation, HbA1c decreased from 6.5% to 5.1% during setmelanotide treatment.

    Peptide
    Setmelanotide
    Outcome
    DecreasePatient 1 HbA1c
    Study

    n = 1

    Comparator
    Pretreatment
    Outcome group
    Glycemic control · Metabolic and weight
    Studied dose
    Dose not stated

    Measurements

    HbA1c
    6.5%
    Patient 1, initial value
    HbA1c
    5.1%
    Patient 1, value after 12 months

    Source sentences

    Summary
    Patient 1, a 17-year-old boy with a homozygous pathogenic SDCCAG8 exon deletion, improved over 12 months: weight 55.6 to 48.0 kg, BMI 26.6 to 23.0 kg/m2, BMI-for-age z-score +1.60 to +0.43, maximal-hunger score 8/10 to 5/10, and HbA1c 6.5% to 5.1%.
    1 context sentence
    Summary · context
    We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data.
  9. 09HumanCase report or seriesEfficacy outcome

    In a girl with BBS after kidney transplantation, hunger decreased with setmelanotide.

    In plain wordsIn a girl with BBS after kidney transplantation, hunger decreased during setmelanotide treatment.

    Peptide
    Setmelanotide
    Outcome
    DecreasePatient 2 hunger
    Study

    n = 1

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

    Source sentences

    Summary
    Patient 2, an 8-year-old girl with a homozygous likely pathogenic BBS5 splice-site variant and a heterozygous PCSK1 N221D variant, showed reduced hunger and an initial z-score fall from +6.10 to +5.69 by month 2.5, meeting the 0.2-point threshold for clinically meaningful change
    1 context sentence
    Summary · context
    We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data.
  10. 10HumanCase report or seriesEfficacy outcome

    In a girl with BBS after kidney transplantation, z-score decreased from +6.10 to +5.69 by month 2.5 with setmelanotide, without sustained improvement.

    In plain wordsIn a girl with BBS after kidney transplantation, BMI z-score initially decreased during setmelanotide treatment, but the improvement did not persist.

    Peptide
    Setmelanotide
    Outcome
    MixedPatient 2 BMI z-score
    Study

    n = 1

    Comparator
    Pretreatment
    Outcome group
    Body weight · Metabolic and weight
    Studied dose
    Dose not stated

    Measurements

    z-score
    6.1 z-score
    Patient 2, initial value
    z-score
    5.69 z-score
    Patient 2, month 2.5

    Source sentences

    Summary
    showed reduced hunger and an initial z-score fall from +6.10 to +5.69 by month 2.5, meeting the 0.2-point threshold for clinically meaningful change; this was not sustained, and BMI rose from 38.0 to 42.7 kg/m2 by eight months despite a dose of 3 mg/day.
    1 context sentence
    Summary · context
    We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data.
  11. 11HumanCase report or seriesEfficacy outcome

    In a girl with BBS after kidney transplantation, BMI rose from 38.0 to 42.7 kg/m² by eight months despite setmelanotide 3 mg/day.

    In plain wordsIn a girl with BBS after kidney transplantation, BMI increased during setmelanotide treatment despite a dose of 3 mg/day.

    Peptide
    Setmelanotide
    Outcome
    IncreasePatient 2 BMI
    Study

    n = 1

    Comparator
    Pretreatment
    Outcome group
    Body weight · Metabolic and weight
    Studied dose
    3 mg/dayAs given in this study (human).

    Measurements

    BMI
    38 kg/m²
    Patient 2, initial value
    BMI
    42.7 kg/m²
    Patient 2, month 8

    Source sentences

    Summary
    this was not sustained, and BMI rose from 38.0 to 42.7 kg/m2 by eight months despite a dose of 3 mg/day.
    1 context sentence
    Summary · context
    We evaluated two children with BBS treated with setmelanotide after kidney transplantation, collecting anthropometric, hunger, metabolic, graft-function, cyclosporine and genetic data.

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

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Terms as the source lists them.

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