Clinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study

Individuals with achondroplasia are characterized by a higher comorbidity burden and substantially higher HCRU and related costs relative to matched controls. The results also suggest that despite high HCRU and costs, individuals with achondroplasia likely are not seen by providers early enough nor are they necessarily seen by appropriate specialists, indicating a need for improved care and disease management.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2025-02-27
DOI
https://doi.org/10.1186/s13023-024-03268-w
Citations
1
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
1.82
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article

Clinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study

Christine L. Baker, Paulette Negron Ericksen, Jane Loftus, Michael P. Wajnrajch et al.
1 citations
Orphanet Journal of Rare Diseases
Connective tissue disorders research
1.82
article

Clinical and economic burden of achondroplasia in the United States: results from a retrospective, observational study

Christine L. Baker, Paulette Negron Ericksen, Jane Loftus, Michael P. Wajnrajch, Nadia Merchant, Alison Slade, José Alvir, José Cara
article en
1 citations

Abstract

Individuals with achondroplasia are characterized by a higher comorbidity burden and substantially higher HCRU and related costs relative to matched controls. The results also suggest that despite high HCRU and costs, individuals with achondroplasia likely are not seen by providers early enough nor are they necessarily seen by appropriate specialists, indicating a need for improved care and disease management.

Orphanet Journal of Rare DiseasesVol. 20(1)
Pfizer (United States) (US), Pfizer (United Kingdom) (GB), Pfizer (Switzerland) (CH), New York University (US), The University of Texas Southwestern Medical Center (US)
Openalex Percentile: Top 18%
Connective tissue disorders research
1.82
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