MAScINSIGHT: A Real-World Data Study to Deepen Knowledge and Management of McCune-Albright Syndrome - Study Protocol for an Observational Study within OHDSI
- 1TUD Dresden University of Technology
Abstract
IntroductionMcCune-Albright syndrome (MAS) is a rare congenital disorder affecting endocrine, skeletal and dermatological systems. MAS is often coded as fibrous dysplasia (FD) in routine health data, which includes other conditions and does not allow precise identification. This coding gap complicates reliable epidemiological estimates and clinical characterization. The study MAScINSIGHT aims to address this by investigating MAS features within FD-coded cohorts.
Methods and analysisMAScINSIGHT is a retrospective observational study using a federated network of data in the OMOP Common Data Model. Routine data from multiple sites will be analyzed within a federated setting to assess endocrine abnormalities and treatment patterns in patients with FD or MAS.
Ethics and disseminationAnalyses will be performed locally at the data partner, with only aggregate statistics made available and centrally analyzed. The study protocol was approved by the ethics committee (reference number: 2026-18760-retrospektiv). Findings will be disseminated through open-access publications and patient-oriented reports.
Strengths and limitations of this studyO_LIThe study uses a federated approach based on the Observational Health Data Sciences and Informatics (OHDSI) framework and the OMOP Common Data Model, enabling standardized and reproducible analyses across institutions and countries while preserving data privacy. C_LIO_LIThe multinational approach enables the analysis of larger and more diverse patient populations than typically available at individual institutions, addressing a major challenge in rare disease research. C_LIO_LIThe integration of rare disease-specific terminologies, particularly ORPHAcodes, into the OHDSI vocabulary system supports more precise cohort identification and characterization, providing a transferable methodological approach for rare disease research. C_LIO_LIThe retrospective design relies on routinely collected healthcare data, which may be affected by incomplete documentation, inconsistent coding practices and differences in data availability and quality across participating sites. C_LIO_LIDue to the rarity of McCune-Albright syndrome, sample sizes may remain limited despite the multinational approach, potentially restricting statistical power and subgroup analyses. C_LI
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BibTeX
@misc{zoch2026mascinsight,
title = {{MAScINSIGHT: A Real-World Data Study to Deepen Knowledge and Management of McCune-Albright Syndrome - Study Protocol for an Observational Study within OHDSI}},
author = {M. Zoch and C. Hentrich and K. E. O. Mothes and J. Weidner and K. Hoffmann and M. Sedlmayr and A. Huebner and C. Reich and I. Reinecke and G. Schwabe and J. Wernsmann and J. Bauer and C. Grasemann},
howpublished = {medRxiv},
year = {2026},
month = oct,
doi = {10.64898/2026.10.24.26366390},
url = {https://www.medrxiv.org/content/10.64898/2026.10.24.26366390v1},
note = {CC BY-NC},
}
RIS
TY - UNPB
TI - MAScINSIGHT: A Real-World Data Study to Deepen Knowledge and Management of McCune-Albright Syndrome - Study Protocol for an Observational Study within OHDSI
AU - M. Zoch
AU - C. Hentrich
AU - K. E. O. Mothes
AU - J. Weidner
AU - K. Hoffmann
AU - M. Sedlmayr
AU - A. Huebner
AU - C. Reich
AU - I. Reinecke
AU - G. Schwabe
AU - J. Wernsmann
AU - J. Bauer
AU - C. Grasemann
PY - 2026
DA - 2026/10/24
PB - medRxiv
DO - 10.64898/2026.10.24.26366390
UR - https://www.medrxiv.org/content/10.64898/2026.10.24.26366390v1
AB - IntroductionMcCune-Albright syndrome (MAS) is a rare congenital disorder affecting endocrine, skeletal and dermatological systems. MAS is often coded as fibrous dysplasia (FD) in routine health data, which includes other conditions and does not allow precise identification. This coding gap complicates reliable epidemiological estimates and clinical characterization. The study MAScINSIGHT aims to address this by investigating MAS features within FD-coded cohorts. Methods and analysisMAScINSIGHT is a retrospective observational study using a federated network of data in the OMOP Common Data Model. Routine data from multiple sites will be analyzed within a federated setting to assess endocrine abnormalities and treatment patterns in patients with FD or MAS. Ethics and disseminationAnalyses will be performed locally at the data partner, with only aggregate statistics made available and centrally analyzed. The study protocol was approved by the ethics committee (reference number: 2026-18760-retrospektiv). Findings will be disseminated through open-access publications and patient-oriented reports. Strengths and limitations of this studyO_LIThe study uses a federated approach based on the Observational Health Data Sciences and Informatics (OHDSI) framework and the OMOP Common Data Model, enabling standardized and reproducible analyses across institutions and countries while preserving data privacy. C_LIO_LIThe multinational approach enables the analysis of larger and more diverse patient populations than typically available at individual institutions, addressing a major challenge in rare disease research. C_LIO_LIThe integration of rare disease-specific terminologies, particularly ORPHAcodes, into the OHDSI vocabulary system supports more precise cohort identification and characterization, providing a transferable methodological approach for rare disease research. C_LIO_LIThe retrospective design relies on routinely collected healthcare data, which may be affected by incomplete documentation, inconsistent coding practices and differences in data availability and quality across participating sites. C_LIO_LIDue to the rarity of McCune-Albright syndrome, sample sizes may remain limited despite the multinational approach, potentially restricting statistical power and subgroup analyses. C_LI
ER -