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Study · Case report or series · n = 2 · 2024

6 results

Case report: Nerve fiber regeneration in children with melanocortin 4 receptor gene mutation related obesity treated with semaglutide.

Gad H, Mohammed I, Dauleh H, Pasha M, Al-Barazenji T, Hussain K, Malik RA

Frontiers in endocrinology21 Jun 2024Cited by 8 (Europe PMC)

PMID38974580 (opens in a new tab)PMCIDPMC11227249 (opens in a new tab)DOI10.3389/fendo.2024.1385463 (opens in a new tab)PepBankPUB-38974580
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Summary

Melanocortin 4 receptor (MC4R) mutations are the commonest cause of monogenic obesity through dysregulation of neuronal pathways in the hypothalamus and prefrontal cortex that regulate hunger and satiety. MC4R also regulates neuropathic pain pathways via JNK signaling after nerve injury. We show evidence of corneal small fiber degeneration in 2 siblings carrying a heterozygous missense variant c.508A>G, p.Ille170Val in the MC4R gene. Both children were treated with once weekly semaglutide for 6 months with no change in weight, and only a minor improvement in HbA1c and lipid profile. However, there was evidence of nerve regeneration with an increase in corneal nerve fiber density (CNFD) [child A (13.9%), child B (14.7%)], corneal nerve branch density (CNBD) [child A (110.2%), child B (58.7%)] and corneal nerve fiber length (CNFL) [child A (21.5%), child B (44.0%)].
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. 01HumanCase report or seriesEfficacy outcome

    In two children with an MC4R variant, six months of once-weekly semaglutide did not change weight.

    In plain wordsIn two children with an MC4R gene variant, six months of semaglutide did not change weight.

    Peptide
    Semaglutide
    Outcome
    No significant changeBody weight
    Study

    n = 2

    Outcome group
    Body weight · Metabolic and weight
    Studied dose
    Dose not stated · 6 monthsAs given in this study (human).

    Source sentences

    Summary
    Both children were treated with once weekly semaglutide for 6 months with no change in weight, and only a minor improvement in HbA1c and lipid profile.
    1 context sentence
    Summary · context
    We show evidence of corneal small fiber degeneration in 2 siblings carrying a heterozygous missense variant c.508A>G, p.Ille170Val in the MC4R gene.
  2. 02HumanCase report or seriesEfficacy outcome

    In two children with an MC4R variant, six months of semaglutide gave only a minor improvement in HbA1c.

    In plain wordsIn two children with an MC4R gene variant, semaglutide gave only a small improvement in HbA1c after six months.

    Peptide
    Semaglutide
    Outcome
    DecreaseHbA1c
    Study

    n = 2

    Outcome group
    Glycemic control · Metabolic and weight
    Studied dose
    Dose not stated · 6 monthsAs given in this study (human).

    Source sentences

    Summary
    Both children were treated with once weekly semaglutide for 6 months with no change in weight, and only a minor improvement in HbA1c and lipid profile.
    1 context sentence
    Summary · context
    We show evidence of corneal small fiber degeneration in 2 siblings carrying a heterozygous missense variant c.508A>G, p.Ille170Val in the MC4R gene.
  3. 03HumanCase report or seriesEfficacy outcome

    In two children with an MC4R variant, six months of semaglutide gave only a minor improvement in lipid profile.

    In plain wordsIn two children with an MC4R gene variant, semaglutide gave only a small improvement in blood fats after six months.

    Peptide
    Semaglutide
    Outcome
    Direction not reportedLipid profile
    Study

    n = 2

    Outcome group
    Lipids · Metabolic and weight
    Studied dose
    Dose not stated · 6 monthsAs given in this study (human).

    Source sentences

    Summary
    Both children were treated with once weekly semaglutide for 6 months with no change in weight, and only a minor improvement in HbA1c and lipid profile.
    1 context sentence
    Summary · context
    We show evidence of corneal small fiber degeneration in 2 siblings carrying a heterozygous missense variant c.508A>G, p.Ille170Val in the MC4R gene.
  4. 04HumanCase report or seriesEfficacy outcome

    In two children with an MC4R variant, semaglutide was followed by an increase in corneal nerve fiber density.

    In plain wordsIn two children with an MC4R gene variant, corneal nerve fiber density increased after semaglutide treatment.

    Peptide
    Semaglutide
    Outcome
    IncreaseCorneal nerve fiber density
    Study

    n = 2

    Outcome group
    Neuroprotection · Nervous system and cognition
    Studied dose
    Dose not stated · 6 monthsAs given in this study (human).

    Measurements

    CNFD change
    13.9%
    child A
    CNFD change
    14.7%
    child B

    Source sentences

    Summary
    However, there was evidence of nerve regeneration with an increase in corneal nerve fiber density (CNFD) [child A (13.9%), child B (14.7%)]
    1 context sentence
    Summary · context
    We show evidence of corneal small fiber degeneration in 2 siblings carrying a heterozygous missense variant c.508A>G, p.Ille170Val in the MC4R gene.
  5. 05HumanCase report or seriesEfficacy outcome

    In two children with an MC4R variant, semaglutide was followed by an increase in corneal nerve branch density.

    In plain wordsIn two children with an MC4R gene variant, corneal nerve branch density increased after semaglutide treatment.

    Peptide
    Semaglutide
    Outcome
    IncreaseCorneal nerve branch density
    Study

    n = 2

    Outcome group
    Neuroprotection · Nervous system and cognition
    Studied dose
    Dose not stated · 6 monthsAs given in this study (human).

    Measurements

    CNBD change
    110.2%
    child A
    CNBD change
    58.7%
    child B

    Source sentences

    Summary
    corneal nerve branch density (CNBD) [child A (110.2%), child B (58.7%)]
    1 context sentence
    Summary · context
    We show evidence of corneal small fiber degeneration in 2 siblings carrying a heterozygous missense variant c.508A>G, p.Ille170Val in the MC4R gene.
  6. 06HumanCase report or seriesEfficacy outcome

    In two children with an MC4R variant, semaglutide was followed by an increase in corneal nerve fiber length.

    In plain wordsIn two children with an MC4R gene variant, corneal nerve fiber length increased after semaglutide treatment.

    Peptide
    Semaglutide
    Outcome
    IncreaseCorneal nerve fiber length
    Study

    n = 2

    Outcome group
    Neuroprotection · Nervous system and cognition
    Studied dose
    Dose not stated · 6 monthsAs given in this study (human).

    Measurements

    CNFL change
    21.5%
    child A
    CNFL change
    44%
    child B

    Source sentences

    Summary
    corneal nerve fiber length (CNFL) [child A (21.5%), child B (44.0%)]
    1 context sentence
    Summary · context
    We show evidence of corneal small fiber degeneration in 2 siblings carrying a heterozygous missense variant c.508A>G, p.Ille170Val in the MC4R gene.

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

    11 Oct 2026, 00:04 UTC

    Study results updated

  2. Version 1

    9 Oct 2026, 03:06 UTC

    First added · source update from Europe PMC

Subjects

Terms as the source lists them.

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