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Study · Non-randomized trial · n = 11 · 2023

6 results

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results.

Forsythe E, Haws RM, Argente J, Beales P, Martos-Moreno GÁ, Dollfus H, Chirila C, Gnanasakthy A, Buckley BC, Mallya UG, Clément K, Haqq AM

Orphanet journal of rare diseases16 Jan 2023Cited by 34 (Europe PMC)

PMID36647077 (opens in a new tab)PMCIDPMC9841937 (opens in a new tab)DOI10.1186/s13023-022-02602-4 (opens in a new tab)PepBankPUB-36647077
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Summary

BackgroundBardet-Biedl syndrome is a rare genetic disease associated with hyperphagia and early-onset, severe obesity. There is limited evidence on how hyperphagia and obesity affect health-related quality of life in patients with Bardet-Biedl syndrome, and on how management of these symptoms may influence disease burden. This analysis evaluated changes in health-related quality of life in adults and children with Bardet-Biedl syndrome in a Phase 3 trial following 1 year of setmelanotide treatment (ClinicalTrials.gov identifier: NCT03746522).MethodsPatients with Bardet-Biedl syndrome and obesity received 52 weeks of treatment with setmelanotide and completed various self-reported health-related quality of life measures. Patients aged < 18 years or their caregiver completed the Pediatric Quality of Life Inventory (PedsQL; meaningful improvement, 4.4-point change); adults aged ≥ 18 years completed the Impact of Weight on Quality of Life Questionnaire-Lite (IWQOL-Lite; meaningful improvement range, 7.7-12-point change). Descriptive outcomes were reported in patients with data both at active treatment baseline and after 52 weeks of treatment.ResultsTwenty patients (< 18 years, n = 9; ≥ 18 years, n = 11) reported health-related quality of life at baseline and 52 weeks. For children and adolescents, PedsQL score mean change from baseline after 52 weeks was + 11.2; all patients with PedsQL impairment at baseline (n = 4) experienced clinically meaningful improvement. In adults, IWQOL-Lite score mean change from baseline was + 12.0. Of adults with IWQOL-Lite impairment at baseline (n = 8), 62.5% experienced clinically meaningful improvement. In adults, IWQOL-Lite score was significantly correlated with changes in percent body weight (P = 0.0037) and body mass index (P = 0.0098).ConclusionsAfter 1 year of setmelanotide, patients reported clinically meaningful improvements across multiple health-related quality of life measures. This study highlights the need to address the impaired health-related quality of life in Bardet-Biedl syndrome, and supports utility of setmelanotide for reducing this burden. Trial Registration NCT03746522. Registered November 19, 2018, https://clinicaltrials.gov/ct2/show/NCT03746522 .
CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study6

6 results from studies that gave the peptide. 6 results from people.

  1. 01HumanNon-randomized trialEfficacy outcome

    In adults with Bardet-Biedl syndrome, IWQOL-Lite increased by 12.0 points from baseline after setmelanotide.

    In plain wordsIn adults with Bardet-Biedl syndrome, quality-of-life scores increased from baseline after setmelanotide.

    Peptide
    Setmelanotide
    Outcome
    IncreaseIWQOL-Lite score
    Study

    n = 11

    Outcome group
    Quality of life · Whole body
    Studied dose
    Dose not stated · 52 weeksAs given in this study (human).

    Measurements

    IWQOL-Lite mean change from baseline
    12 points
    adults, 52 weeks

    Source sentences

    Summary
    In adults, IWQOL-Lite score mean change from baseline was + 12.0.
    2 context sentences
    Summary · context
    Patients with Bardet-Biedl syndrome and obesity received 52 weeks of treatment with setmelanotide and completed various self-reported health-related quality of life measures.
    Summary · context
    Descriptive outcomes were reported in patients with data both at active treatment baseline and after 52 weeks of treatment.
  2. 02HumanNon-randomized trialEfficacy outcome

    In children and adolescents with Bardet-Biedl syndrome, PedsQL increased by 11.2 points from baseline after setmelanotide.

    In plain wordsIn children and adolescents with Bardet-Biedl syndrome, quality-of-life scores increased from baseline after setmelanotide.

    Peptide
    Setmelanotide
    Outcome
    IncreasePedsQL score
    Study

    n = 9

    Outcome group
    Quality of life · Whole body
    Studied dose
    Dose not stated · 52 weeksAs given in this study (human).

    Measurements

    PedsQL mean change from baseline
    11.2 points
    children and adolescents, 52 weeks

    Source sentences

    Summary
    For children and adolescents, PedsQL score mean change from baseline after 52 weeks was + 11.2; all patients with PedsQL impairment at baseline (n = 4) experienced clinically meaningful improvement.
    2 context sentences
    Summary · context
    Patients with Bardet-Biedl syndrome and obesity received 52 weeks of treatment with setmelanotide and completed various self-reported health-related quality of life measures.
    Summary · context
    Descriptive outcomes were reported in patients with data both at active treatment baseline and after 52 weeks of treatment.
  3. 03HumanNon-randomized trialEfficacy outcome

    Among adults with baseline IWQOL-Lite impairment, 62.5% experienced meaningful improvement after setmelanotide.

    In plain wordsAmong adults with impaired baseline quality-of-life scores, 62.5% had meaningful improvement after setmelanotide.

    Peptide
    Setmelanotide
    Outcome
    IncreaseMeaningful IWQOL-Lite improvement
    Study

    n = 8

    Outcome group
    Quality of life · Whole body
    Studied dose
    Dose not stated · 52 weeksAs given in this study (human).

    Measurements

    Adults with clinically meaningful IWQOL-Lite improvement
    62.5%
    adults with baseline IWQOL-Lite impairment (n=8), 52 weeks

    Source sentences

    Summary
    Of adults with IWQOL-Lite impairment at baseline (n = 8), 62.5% experienced clinically meaningful improvement.
    2 context sentences
    Summary · context
    Patients with Bardet-Biedl syndrome and obesity received 52 weeks of treatment with setmelanotide and completed various self-reported health-related quality of life measures.
    Summary · context
    Descriptive outcomes were reported in patients with data both at active treatment baseline and after 52 weeks of treatment.
  4. 04HumanNon-randomized trialEfficacy outcome

    All children and adolescents with baseline PedsQL impairment experienced meaningful improvement after setmelanotide.

    In plain wordsAll children and adolescents with impaired baseline quality-of-life scores had meaningful improvement after setmelanotide.

    Peptide
    Setmelanotide
    Outcome
    IncreaseMeaningful PedsQL improvement
    Study

    n = 4

    Outcome group
    Quality of life · Whole body
    Studied dose
    Dose not stated · 52 weeksAs given in this study (human).

    Measurements

    Patients with clinically meaningful PedsQL improvement
    4 patients
    of 4 children and adolescents with baseline PedsQL impairment, 52 weeks

    Source sentences

    Summary
    For children and adolescents, PedsQL score mean change from baseline after 52 weeks was + 11.2; all patients with PedsQL impairment at baseline (n = 4) experienced clinically meaningful improvement.
    2 context sentences
    Summary · context
    Patients with Bardet-Biedl syndrome and obesity received 52 weeks of treatment with setmelanotide and completed various self-reported health-related quality of life measures.
    Summary · context
    Descriptive outcomes were reported in patients with data both at active treatment baseline and after 52 weeks of treatment.
  5. 05HumanObservational studyEfficacy outcome

    In adults with Bardet-Biedl syndrome receiving setmelanotide, IWQOL-Lite correlated with percent body weight changes (P = 0.0037).

    In plain wordsIn adults receiving setmelanotide, quality-of-life scores were linked to weight changes.

    Peptide
    Setmelanotide
    Outcome
    Direction not reportedQuality of life and weight association
    Study

    n: not reported in source

    Outcome group
    Quality of life · Whole body
    Studied dose
    Dose not stated

    Measurements

    P value, IWQOL-Lite correlation with change in percent body weight
    0.0037 P
    adults

    Source sentences

    Summary
    In adults, IWQOL-Lite score was significantly correlated with changes in percent body weight (P = 0.0037) and body mass index (P = 0.0098).
    2 context sentences
    Summary · context
    Patients with Bardet-Biedl syndrome and obesity received 52 weeks of treatment with setmelanotide and completed various self-reported health-related quality of life measures.
    Summary · context
    Descriptive outcomes were reported in patients with data both at active treatment baseline and after 52 weeks of treatment.
  6. 06HumanObservational studyEfficacy outcome

    In adults with Bardet-Biedl syndrome receiving setmelanotide, IWQOL-Lite correlated with body mass index changes (P = 0.0098).

    In plain wordsIn adults receiving setmelanotide, quality-of-life scores were linked to body mass index changes.

    Peptide
    Setmelanotide
    Outcome
    Direction not reportedQuality of life and BMI association
    Study

    n: not reported in source

    Outcome group
    Quality of life · Whole body
    Studied dose
    Dose not stated

    Measurements

    P value, IWQOL-Lite correlation with change in body mass index
    0.0098 P
    adults

    Source sentences

    Summary
    In adults, IWQOL-Lite score was significantly correlated with changes in percent body weight (P = 0.0037) and body mass index (P = 0.0098).
    2 context sentences
    Summary · context
    Patients with Bardet-Biedl syndrome and obesity received 52 weeks of treatment with setmelanotide and completed various self-reported health-related quality of life measures.
    Summary · context
    Descriptive outcomes were reported in patients with data both at active treatment baseline and after 52 weeks of treatment.

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

Registered trials2

Trials this study reports on, or that list this study as a reference. Registry data from ClinicalTrials.gov.

2 trials · 1 ongoing · 1 completed · 1 with posted results · source ClinicalTrials.gov (opens in a new tab)

RecruitingPhase 4NCT07674290

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

Tom Hühnen = 2001 Jan 2023 to est. 31 Dec 2030

Bardet Biedl Syndrome (BBS) · Bardet Biedl Syndrome · Bardet-Biedl Syndrome (BBS) · Alstrom Syndrome

Trial pageClinicalTrials.govUpdated 29 Jun 2026
CompletedPhase 3Results postedNCT03746522

Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity

Rhythm Pharmaceuticals, Inc.n = 5223 Nov 2018 to 8 Mar 2021

Bardet Biedl Syndrome (BBS) · Alström Syndrome (AS)

Trial pageClinicalTrials.govUpdated 1 Dec 2023

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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