Thanatophoric Dysplasia Type 1 Treated with Vosoritide: A Case Report.

Montero-Lopez R, Blaschitz A, Karas K, Fritz T, Laurer E, Naidoo U, Högler W

Hormone research in paediatrics10 Oct 2025

PMID41078071DOI10.1159/000548836PepBankPUB-41078071

Publisher page PubMedAsk about this study

Summary

The text of this summary is not shown here, because the article license does not allow reuse. Read it at the source (opens in a new tab)

Text rights: CC BY-NC. Results still quote short attributed sentences.

Results from this study7

7 results from studies that gave the peptide. 7 results from people.

01HumanCase report or seriesEfficacy outcome
In a girl with thanatophoric dysplasia type 1 receiving vosoritide, height increased by 1.3 SDS after 28 months compared with baseline.
In plain wordsIn a girl with thanatophoric dysplasia receiving vosoritide, height scores increased from baseline.
Peptide
Vosoritide
Outcome
IncreaseHeight SDS
Study
n = 1
Comparator
Baseline
Outcome group
Bone and joint · Musculoskeletal
Studied dose
15 µg/kg/day, increased to 30 µg/kg/day after 16 months · subcutaneous · 28 monthsAs given in this study (human).
Measurements
Height SDS change
1.3 SDS
after 28 months versus baseline
Source sentences
Summary
After 28 months, height increased by +1.3 SDS and AGV by +2.0 cm/year (+3 SDS from baseline).
2 context sentences(design, population, supporting numbers)
Summary · context
We report the response to vosoritide therapy in a 9-year-old girl with genetically confirmed TD1 (c.2420G>T).
Summary · context
Vosoritide was initiated at a dose of 15 µg/kg/day subcutaneously and increased to 30 µg/kg/day after 16 months.
Report a problemFND-4107807101
02HumanCase report or seriesEfficacy outcome
In a girl with thanatophoric dysplasia receiving vosoritide, AGV increased by 2.0 cm/year and 3 SDS from baseline after 28 months.
In plain wordsIn a girl with thanatophoric dysplasia receiving vosoritide, growth velocity increased from baseline.
Peptide
Vosoritide
Outcome
IncreaseAnnual growth velocity
Study
n = 1
Comparator
Baseline
Outcome group
Bone and joint · Musculoskeletal
Studied dose
15 µg/kg/day, increased to 30 µg/kg/day after 16 months · subcutaneous · 28 monthsAs given in this study (human).
Measurements
Annual growth velocity change
2 cm/year
after 28 months versus baseline
Annual growth velocity change
3 SDS
after 28 months versus baseline
Source sentences
Summary
After 28 months, height increased by +1.3 SDS and AGV by +2.0 cm/year (+3 SDS from baseline).
2 context sentences(design, population, supporting numbers)
Summary · context
We report the response to vosoritide therapy in a 9-year-old girl with genetically confirmed TD1 (c.2420G>T).
Summary · context
Vosoritide was initiated at a dose of 15 µg/kg/day subcutaneously and increased to 30 µg/kg/day after 16 months.
Report a problemFND-4107807102
03HumanCase report or seriesEfficacy outcome
In a girl with thanatophoric dysplasia receiving vosoritide, lung vital capacity improved by 65%.
In plain wordsIn a girl with thanatophoric dysplasia receiving vosoritide, lung vital capacity increased from baseline.
Peptide
Vosoritide
Outcome
IncreaseLung vital capacity
Study
n = 1
Comparator
Baseline
Outcome group
Respiratory function · Respiratory
Studied dose
15 µg/kg/day, increased to 30 µg/kg/day after 16 months · subcutaneous · 28 monthsAs given in this study (human).
Measurements
Change in lung vital capacity
65%
Girl with TD1 on vosoritide, over longitudinal follow-up
Source sentences
Summary
Lung vital capacity improved by 65%.
2 context sentences(design, population, supporting numbers)
Summary · context
We report the response to vosoritide therapy in a 9-year-old girl with genetically confirmed TD1 (c.2420G>T).
Summary · context
Vosoritide was initiated at a dose of 15 µg/kg/day subcutaneously and increased to 30 µg/kg/day after 16 months.
Report a problemFND-4107807103
04HumanCase report or seriesEfficacy outcome
In a girl with thanatophoric dysplasia receiving vosoritide, severe foramen magnum stenosis persisted without radiological progression.
In plain wordsIn a girl receiving vosoritide, severe foramen magnum narrowing persisted without progression on MRI.
Peptide
Vosoritide
Outcome
No significant changeForamen magnum stenosis progression
Study
n = 1
Comparator
Baseline
Outcome group
Bone and joint · Musculoskeletal
Studied dose
15 µg/kg/day, increased to 30 µg/kg/day after 16 months · subcutaneous · 28 monthsAs given in this study (human).
Source sentences
Summary
Serial MRI demonstrated persistent severe foramen magnum stenosis without radiological progression.
2 context sentences(design, population, supporting numbers)
Summary · context
We report the response to vosoritide therapy in a 9-year-old girl with genetically confirmed TD1 (c.2420G>T).
Summary · context
Vosoritide was initiated at a dose of 15 µg/kg/day subcutaneously and increased to 30 µg/kg/day after 16 months.
Report a problemFND-4107807104
05HumanCase report or seriesSafety outcome
In a girl with thanatophoric dysplasia receiving vosoritide, transient injection-site reactions occurred.
In plain wordsA girl with thanatophoric dysplasia receiving vosoritide had temporary injection-site reactions.
Peptide
Vosoritide
Outcome
Not applicableInjection-site reactions
Study
n = 1
Outcome group
Adverse events · Skin and wound
Studied dose
15 µg/kg/day, increased to 30 µg/kg/day after 16 months · subcutaneous · 28 monthsAs given in this study (human).
Source sentences
Summary
Adverse events were limited to transient injection-site reactions and mild vasovagal episodes; no major safety concerns emerged.
2 context sentences(design, population, supporting numbers)
Summary · context
We report the response to vosoritide therapy in a 9-year-old girl with genetically confirmed TD1 (c.2420G>T).
Summary · context
Vosoritide was initiated at a dose of 15 µg/kg/day subcutaneously and increased to 30 µg/kg/day after 16 months.
Report a problemFND-4107807105
06HumanCase report or seriesSafety outcome
In a girl with thanatophoric dysplasia receiving vosoritide, mild vasovagal episodes occurred.
In plain wordsA girl with thanatophoric dysplasia receiving vosoritide had mild vasovagal episodes.
Peptide
Vosoritide
Outcome
Not applicableVasovagal episodes
Study
n = 1
Outcome group
Adverse events · Cardiovascular
Studied dose
15 µg/kg/day, increased to 30 µg/kg/day after 16 months · subcutaneous · 28 monthsAs given in this study (human).
Source sentences
Summary
Adverse events were limited to transient injection-site reactions and mild vasovagal episodes; no major safety concerns emerged.
2 context sentences(design, population, supporting numbers)
Summary · context
We report the response to vosoritide therapy in a 9-year-old girl with genetically confirmed TD1 (c.2420G>T).
Summary · context
Vosoritide was initiated at a dose of 15 µg/kg/day subcutaneously and increased to 30 µg/kg/day after 16 months.
Report a problemFND-4107807106
07HumanCase report or seriesSafety outcome
In a girl with thanatophoric dysplasia receiving vosoritide, no major safety concerns emerged.
In plain wordsNo major safety concerns emerged in a girl with thanatophoric dysplasia receiving vosoritide.
Peptide
Vosoritide
Outcome
Not applicableMajor safety concerns
Study
n = 1
Outcome group
Adverse events · Whole body
Studied dose
15 µg/kg/day, increased to 30 µg/kg/day after 16 months · subcutaneous · 28 monthsAs given in this study (human).
Source sentences
Summary
Adverse events were limited to transient injection-site reactions and mild vasovagal episodes; no major safety concerns emerged.
2 context sentences(design, population, supporting numbers)
Summary · context
We report the response to vosoritide therapy in a 9-year-old girl with genetically confirmed TD1 (c.2420G>T).
Summary · context
Vosoritide was initiated at a dose of 15 µg/kg/day subcutaneously and increased to 30 µg/kg/day after 16 months.
Report a problemFND-4107807107

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.

Version 2Current
28 Oct 2026, 02:03 UTC
Study results updated
Version 1
27 Oct 2026, 16:37 UTC
First added · source update from Europe PMC

Subjects

Terms as the source lists them.

Publication types

Keywords

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