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Record W4225369872 · doi:10.1016/j.gim.2022.04.001

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

2022· article· en· W4225369872 on OpenAlexaff
Sarah C. Grünert, Terry G. J. Derks, Katarina Adrian, Khalid Al‐Thihli, Diana Ballhausen, Joanna Bidiuk, Andrea Bordugo, Monica Boyer, Drago Bratkovic, Michaela Brunner‐Krainz, Alberto Burlina, Anupam Chakrapani, Willemijn E. Corpeleijn, Alison Cozens, Charlotte Dawson, Helena Dhamko, Maja Djordjevic Milosevic, Hernán Eiroa, Yael Finezilber, Carolina Fischinger Moura de Souza, Maria Concepción García‐Jiménez, Serena Gasperini, Dorothea Haas, Johannes Häberle, Rebecca Halligan, Law Hiu Fung, Alexandra Hörbe‐Blindt, Laura Horka, Martina Huemer, Sema Kalkan Uçar, Bozica Kecman, Sebile Kılavuz, Gergely Kriván, Martin Lindner, Natalia Lüsebrink, Konstantinos Makrilakis, Anne Mei Kwun Kwok, Esther M. Maier, Arianna Maiorana, Shawn E. McCandless, John James Mitchell, Hiroshi Mizumoto, Helen Mundy, Carlos Ochôa, Kathryn Pierce, Pilar Quijada Fraile, Debra S. Regier, Alessandro Rossi, René Santer, Hester C. Schuman, Piotr Sobieraj, Johannes Spenger, Ronen Spiegel, Karolina M. Stępień, Galit Tal, Mojca Žerjav Tanšek, Ana Drole Torkar, Michel Tchan, Santhosh Thyagu, Samantha A. Schrier Vergano, Erika Vucko, Natalie Weinhold, Petra Zsidegh, Saskia B. Wortmann

Bibliographic record

VenueGenetics in Medicine · 2022
Typearticle
Languageen
FieldMedicine
TopicGlycogen Storage Diseases and Myoclonus
Canadian institutionsMcGill University Health CentreYork UniversityUniversity of Toronto
Fundersnot available
KeywordsEmpagliflozinMedicineNeutropeniaAdverse effectInternal medicineSurgeryDiabetes mellitusType 2 diabetesChemotherapyEndocrinology

Abstract

fetched live from OpenAlex

PURPOSE: This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib). METHODS: This is an international retrospective questionnaire study on the safety and efficacy of empagliflozin use for management of neutropenia/neutrophil dysfunction in patients with GSD Ib, conducted among the respective health care providers from 24 countries across the globe. RESULTS: Clinical data from 112 individuals with GSD Ib were evaluated, representing a total of 94 treatment years. The median age at start of empagliflozin treatment was 10.5 years (range = 0-38 years). Empagliflozin showed positive effects on all neutrophil dysfunction-related symptoms, including oral and urogenital mucosal lesions, recurrent infections, skin abscesses, inflammatory bowel disease, and anemia. Before initiating empagliflozin, most patients with GSD Ib were on G-CSF (94/112; 84%). At the time of the survey, 49 of 89 (55%) patients previously treated with G-CSF had completely stopped G-CSF, and another 15 (17%) were able to reduce the dose. The most common adverse event during empagliflozin treatment was hypoglycemia, occurring in 18% of individuals. CONCLUSION: Empagliflozin has a favorable effect on neutropenia/neutrophil dysfunction-related symptoms and safety profile in individuals with GSD Ib.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation 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 score0.043
Threshold uncertainty score0.683

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.041
GPT teacher head0.353
Teacher spread0.311 · 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 teacher head, 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

Citations65
Published2022
Admission routes1
Has abstractyes

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