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Record W4412700966 · doi:10.1186/s13023-025-03739-8

Unmet needs in hereditary angioedema: an international survey of physicians

2025· article· en· W4412700966 on OpenAlexafffund
Thomas Buttgereit, Felix Aulenbacher, Adil Adatia, Carolina Vera Ayala, Maryam Al‐Nesf, Sabine Altrichter, Mohamed Abuzakouk, Mona Al‐Ahmad, Ramzy Mohammed Ali, Alejandro Berardi, Isabelle Boccon-Gibod, Laurence Bouillet, Luisa Brussino, Marko Barešić, Paula J. Busse, Stephen Betschel, Herberto José Chong‐Neto, Oscar Calderón Llosa, Timothy Craig, Anthony D. Dorr, Sérgio Duarte Dortas, Daria Fomina, Henriette Farkas, Jie Shen Fok, Anete Sevciovic Grumach, Jens Greve, Mar Guilarte, Margarida Gonçalo, Vesna Grivcheva‐Panovska, Michihiro Hide, Roman Hakl, Ankur Kumar Jindal, Constance H. Katelaris, Shailajah Kamaleswaran, Tamar Kinaciyan, Elena A. Latysheva, José Ignacio Larco Sousa, Ramón Lleonart Bellfill, Hassan Mobayed, Martin Metz, Iman Nasr, Natasa Teovska Mitrevska, Stefania Nicola, Claudio Alberto Salvador Parisi, Grzegorz Porębski, Jonny Peter, Mariana Paes Leme Ferriani, Nelson Augusto Rosário Filho, Bülent Enis Şekerel, Faradiba Sarquis Serpa, Marcin Stobiecki, Susanne Trainotti, Anna Valerieva, Chamard Wongsa, Jane C. Y. Wong, Esra Yücel, Yinglei Li, Chiara Nenci, Marcus Maurer, Markus Magerl, Philip H. Li

Bibliographic record

VenueOrphanet Journal of Rare Diseases · 2025
Typearticle
Languageen
FieldMedicine
TopicCoagulation, Bradykinin, Polyphosphates, and Angioedema
Canadian institutionsUniversity of TorontoUniversity of Alberta
FundersCSL LimitedGrifolsConselho Nacional de Desenvolvimento Científico e TecnológicoGlenmark PharmaceuticalsArgenxCelltrionPfizerIncyteLEO PharmaCharité – Universitätsmedizin BerlinKiniksa PharmaceuticalsBioCrystFundació Institut de Recerca Hospital Universitari Vall d’HebronGaldermaOno PharmaceuticalEli Lilly and CompanyAstraZenecaCSL BehringAmgenPennsylvania State UniversityMenarini GroupSwedish Orphan BiovitrumUniversity of PennsylvaniaRegeneron PharmaceuticalsIonis PharmaceuticalsCanadian Blood ServicesTeva Pharmaceutical IndustriesWorkplace Safety and Insurance BoardSanofiCelldex Therapeutics
KeywordsHereditary angioedemaMedicineFamily medicineReimbursementAngioedemaHealth careImmunology

Abstract

fetched live from OpenAlex

BACKGROUND: Hereditary angioedema (HAE) is a rare and potentially life-threatening genetic disorder characterized by unpredictable attacks of angioedema. MENTALIST (UnMEt Needs in herediTAry angioedema-a gLobal physIcian perSpecTive) is the first international survey uncovering unmet needs and identifying barriers to optimal management in HAE following the latest update of the World Allergy Organization (WAO)/European Academy of Allergy and Clinical Immunology (EAACI) HAE guidelines. METHODS: This web-based survey comprised 24 questions on HAE management and unmet needs. HAE-expert physicians from the Angioedema Centers of Reference and Excellence network ranked unmet needs according to their own perspectives and their patients' perspectives, using a 10-point Likert scale ranging from 0 (not a challenge/unmet need at all) to 10 (huge challenge/unmet need). RESULTS: Of 64 respondents from 32 countries, most (91%) had > 5 years of experience in managing HAE. Overall, 48% of respondents (n = 31/64) reported that < 50% of their patients had achieved the WAO/EAACI HAE treatment goals of total disease control and "normalization" of life at the time of the survey. Implementation of consensus recommendations was found to be inconsistent across regions. Gaps in non-HAE-expert physician knowledge, treatment costs, and reimbursement for long-term prophylaxis were the highest-priority challenges according to the respondents. Burden of disease remains a challenge among patients, as reported by their physicians. CONCLUSIONS: The MENTALIST findings highlight a need for removal of barriers to HAE treatment goals and propose a call to action to improve access to treatments, for greater provision of education for physicians and patients, critical collaboration with patient organizations and industry stakeholders and ultimately to optimize HAE care.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.008
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.011

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.008
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.002
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.017
GPT teacher head0.297
Teacher spread0.280 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations9
Published2025
Admission routes2
Has abstractyes

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