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Study · Case report or series · n = 1 · 2026

6 results

Case Report: Palopegteriparatide as a novel therapeutic option in pediatric autosomal dominant hypocalcemia type 1.

Zygmunt A, Fedorczak A, Krotowski Ł, Łupińska A, Sałacińska K, Gach A, Mannstadt M, Stawerska R

Frontiers in endocrinology17 Jun 2026

PMID42388864 (opens in a new tab)PMCIDPMC13318765 (opens in a new tab)DOI10.3389/fendo.2026.1837966 (opens in a new tab)PepBankPUB-42388864
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Summary

IntroductionAutosomal dominant hypocalcemia type 1 (ADH1) is a rare genetic disorder caused by gain-of-function variants in the CASR gene, leading to suppressed parathyroid hormone (PTH) secretion, hypocalcemia, hyperphosphatemia, hypomagnesemia and hypercalciuria. Evidence on the use of long-acting PTH analogs in pediatric ADH1 remains scarce. This report describes a boy with a de novo heterozygous activating CASR variant and highlights the therapeutic response to palopegteriparatide.Case presentationA 16-year-old boy presented with hypocalcemia, recurrent tetany, seizures, hypercalciuria, nephrocalcinosis, basal ganglia calcifications, and early-onset cataracts. He had been diagnosed with congenital hypoparathyroidism at 6 weeks of age. A heterozygous CASR variant [c.2504C>A; p.(Ala835Asp)] causing ADH1 was identified. Despite long-term therapy with alfacalcidol, calcium, and magnesium supplements, symptoms persisted and biochemical control remained poor, with pronounced hyperphosphatemia and an elevated calcium-phosphate product.Intervention and outcomesOwing to inadequate disease control on Standard-of-Care, off-label treatment with palopegteriparatide was initiated. The dose was adjusted to alleviate neuromuscular symptoms while reducing calcium-phosphate product. The patient subsequently reported complete resolution of tetany with improved biochemical stability, reduced phosphate levels, and a lower calcium-phosphate product. At the final maintenance dose, both alfacalcidol and calcium supplementation were successfully discontinued.ConclusionThis case demonstrates that palopegteriparatide may be a valuable therapeutic option in pediatric patients with ADH1 when conventional therapy fails to provide adequate control and while targeted therapies directed at the mutated CASR are not yet available. Carefully titrated PTH-based therapy can improve symptoms and mineral homeostasis, highlighting the need for further studies on its long-term safety and efficacy in children.
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 a boy with ADH1, tetany resolved after palopegteriparatide initiation.

    In plain wordsIn a boy with ADH1, tetany resolved after palopegteriparatide initiation.

    Peptide
    Palopegteriparatide
    Outcome
    DecreaseTetany resolution
    Study

    n = 1

    Outcome group
    Neuromuscular symptoms · Endocrine and hormones
    Studied dose
    Dose not stated

    Source sentences

    Summary
    The patient subsequently reported complete resolution of tetany with improved biochemical stability, reduced phosphate levels, and a lower calcium-phosphate product.
    2 context sentences
    Summary · context
    This report describes a boy with a de novo heterozygous activating CASR variant and highlights the therapeutic response to palopegteriparatide.
    Summary · context
    Owing to inadequate disease control on Standard-of-Care, off-label treatment with palopegteriparatide was initiated.
  2. 02HumanCase report or seriesEfficacy outcome

    In a boy with ADH1, biochemical stability improved after palopegteriparatide initiation.

    In plain wordsIn a boy with ADH1, biochemical stability improved after palopegteriparatide initiation.

    Peptide
    Palopegteriparatide
    Outcome
    Direction not reportedBiochemical stability
    Study

    n = 1

    Outcome group
    Electrolyte balance · Endocrine and hormones
    Studied dose
    Dose not stated

    Source sentences

    Summary
    The patient subsequently reported complete resolution of tetany with improved biochemical stability, reduced phosphate levels, and a lower calcium-phosphate product.
    2 context sentences
    Summary · context
    This report describes a boy with a de novo heterozygous activating CASR variant and highlights the therapeutic response to palopegteriparatide.
    Summary · context
    Owing to inadequate disease control on Standard-of-Care, off-label treatment with palopegteriparatide was initiated.
  3. 03HumanCase report or seriesEfficacy outcome

    In a boy with ADH1, phosphate levels decreased after palopegteriparatide initiation.

    In plain wordsIn a boy with ADH1, phosphate levels decreased after palopegteriparatide initiation.

    Peptide
    Palopegteriparatide
    Outcome
    DecreasePhosphate levels
    Study

    n = 1

    Outcome group
    Electrolyte balance · Endocrine and hormones
    Studied dose
    Dose not stated

    Source sentences

    Summary
    The patient subsequently reported complete resolution of tetany with improved biochemical stability, reduced phosphate levels, and a lower calcium-phosphate product.
    2 context sentences
    Summary · context
    This report describes a boy with a de novo heterozygous activating CASR variant and highlights the therapeutic response to palopegteriparatide.
    Summary · context
    Owing to inadequate disease control on Standard-of-Care, off-label treatment with palopegteriparatide was initiated.
  4. 04HumanCase report or seriesEfficacy outcome

    In a boy with ADH1, calcium-phosphate product decreased after palopegteriparatide initiation.

    In plain wordsIn a boy with ADH1, calcium-phosphate product decreased after palopegteriparatide initiation.

    Peptide
    Palopegteriparatide
    Outcome
    DecreaseCalcium-phosphate product
    Study

    n = 1

    Outcome group
    Electrolyte balance · Endocrine and hormones
    Studied dose
    Dose not stated

    Source sentences

    Summary
    The patient subsequently reported complete resolution of tetany with improved biochemical stability, reduced phosphate levels, and a lower calcium-phosphate product.
    2 context sentences
    Summary · context
    This report describes a boy with a de novo heterozygous activating CASR variant and highlights the therapeutic response to palopegteriparatide.
    Summary · context
    Owing to inadequate disease control on Standard-of-Care, off-label treatment with palopegteriparatide was initiated.
  5. 05HumanCase report or seriesEfficacy outcome

    In a boy with ADH1, alfacalcidol was discontinued at the final palopegteriparatide maintenance dose.

    In plain wordsIn a boy with ADH1, alfacalcidol was discontinued at the final palopegteriparatide maintenance dose.

    Peptide
    Palopegteriparatide
    Outcome
    DecreaseAlfacalcidol discontinuation
    Study

    n = 1

    Outcome group
    Conventional therapy requirements · Endocrine and hormones
    Studied dose
    Dose not stated

    Source sentences

    Summary
    At the final maintenance dose, both alfacalcidol and calcium supplementation were successfully discontinued.
    2 context sentences
    Summary · context
    This report describes a boy with a de novo heterozygous activating CASR variant and highlights the therapeutic response to palopegteriparatide.
    Summary · context
    Owing to inadequate disease control on Standard-of-Care, off-label treatment with palopegteriparatide was initiated.
  6. 06HumanCase report or seriesEfficacy outcome

    In a boy with ADH1, calcium supplementation was discontinued at the final palopegteriparatide maintenance dose.

    In plain wordsIn a boy with ADH1, calcium supplementation was discontinued at the final palopegteriparatide maintenance dose.

    Peptide
    Palopegteriparatide
    Outcome
    DecreaseCalcium supplement discontinuation
    Study

    n = 1

    Outcome group
    Conventional therapy requirements · Endocrine and hormones
    Studied dose
    Dose not stated

    Source sentences

    Summary
    At the final maintenance dose, both alfacalcidol and calcium supplementation were successfully discontinued.
    2 context sentences
    Summary · context
    This report describes a boy with a de novo heterozygous activating CASR variant and highlights the therapeutic response to palopegteriparatide.
    Summary · context
    Owing to inadequate disease control on Standard-of-Care, off-label treatment with palopegteriparatide was initiated.

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, 16:37 UTC

    First added · source update from Europe PMC

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