Медицинская библиотека · European journal of neurology · 2025

Effects of GBA1 Variants in Patients With Parkinson's Disease and Levodopa-Carbidopa Intestinal Gel: A Nation-Wide, Multicenter, Longitudinal, "Real-World" Study. The EPIC Study.

Cilia Roberto, Colucci Fabiana, Cereda Emanuele, Elia Antonio E, Leta Valentina, Barca Silvia, Zibetti Maurizio, Carecchio Miryam, Bonvegna Salvatore, Calandra-Buonaura Giovanna, Cerroni Rocco, De Micco Rosa, Tamburin Stefano, Magistrelli Luca, Lena Francesco, Mascia Marcello M, Picillo Marina, Cossu Giovanni, Marano Massimo, Zampogna Alessandro, Pellicano Clelia, Fioravanti Valentina, Pilotto Andrea, Zangaglia Roberta, Avenali Micol, Sorbera Chiara, Di Biasio Francesca, Arienti Federica, Nicoletti Alessandra, Bagella Caterina, Malaguti Maria Chiara, Ranghetti Alessandra, Caputo Elena, Alimonti Dario, Torre Elena, Oggioni Gaia D, Leuzzi Catia, Romito Luigi M, Andreasi Nico Golfrè, Devigili Grazia, Telese Roberta, Braccia Arianna, Gaudiano Gianfranco, Mazzetti Samanta, Invernizzi Federica, Garavaglia Barbara, Imbalzano Gabriele, Ledda Claudia, Antenucci Pietro, Gozzi Andrea, Bonato Giulia, Percetti Marco, Giannini Giulia, Sambati Luisa, Schirinzi Tommaso, D'Anna Martina, Rinaldi Domiziana, Cavallieri Francesco, Liccari Marco, Priori Alberto, Sessa Maria, Tamma Filippo, Canesi Margherita, Solla Paolo, Zappia Mario, Di Fonzo Alessio, Avanzino Laura, Quartarone Angelo, Valente Enza Maria, Pacchetti Claudio, Padovani Alessandro, Valzania Franco, Pontieri Francesco E, Suppa Antonio, Pellecchia Maria Teresa, Modugno Nicola, Comi Cristoforo, Tinazzi Michele, Tessitore Alessandro, Stefani Alessandro, Cortelli Pietro, Isaias Ioannis U, Antonini Angelo, Sensi Mariachiara, Lopiano Leonardo, Eleopra Roberto

СтатьяМногоцентровое исследованиеПеревод в очереди

Аннотация

BACKGROUND

The outcome of levodopa/carbidopa intestinal gel (LCIG) in Parkinson's disease carriers of GBA1 mutations (GBA-PD) remains uncertain.

OBJECTIVE

To evaluate the safety and efficacy of LCIG in a large PD cohort, focusing on GBA1 variants.

METHODS

This multicenter, retrospective, longitudinal "real-world" study included consecutive patients with advanced PD treated with LCIG at 31 Italian centers; data were collected at baseline, 1-, 5-year, and last-available follow-up.

RESULTS

Data from 512 PD patients (59% male, mean age and disease duration at LCIG initiation 67.0 ± 8.0 and 12.9 ± 5.0 years, respectively) were analyzed. GBA1 genotyping was available for 306 patients (60%), of whom 40 (13%) had GBA1 mutations or risk variants. Mean follow-up on LCIG was 3.9 ± 2.9 years; 5-year follow-up data were available for 159 subjects. At baseline, GBA-PD had a younger age, shorter PD duration, worse cognition, and more hallucinations than noncarriers. At 1- and 5-year follow-up, LCIG improved motor and non-motor symptoms, OFF-time, and dyskinesias in the entire population. In GBA-PD, MDS-UPDRS parts I, II, and III scores did not change, while part IV score improved significantly less than in noncarriers; cognition and orthostatic hypotension symptoms worsened more rapidly. Multivariate analysis of predictors for adverse events and LCIG discontinuation found no significant contribution from GBA1 mutation status.

CONCLUSIONS

GBA1 status does not increase the risk of adverse events or LCIG discontinuation. LCIG is a safe option for advanced GBA-PD, even in patients with cognitive impairment at baseline. However, GBA-PD experiences lower efficacy on motor disability and complications and faster cognitive decline than noncarriers.

Для цитирования: Cilia Roberto, Colucci Fabiana, Cereda Emanuele, Elia Antonio E, Leta Valentina, Barca Silvia, Zibetti Maurizio, Carecchio Miryam, Bonvegna Salvatore, Calandra-Buonaura Giovanna, Cerroni Rocco, De Micco Rosa, Tamburin Stefano, Magistrelli Luca, Lena Francesco, Mascia Marcello M, Picillo Marina, Cossu Giovanni, Marano Massimo, Zampogna Alessandro, Pellicano Clelia, Fioravanti Valentina, Pilotto Andrea, Zangaglia Roberta, Avenali Micol, Sorbera Chiara, Di Biasio Francesca, Arienti Federica, Nicoletti Alessandra, Bagella Caterina, Malaguti Maria Chiara, Ranghetti Alessandra, Caputo Elena, Alimonti Dario, Torre Elena, Oggioni Gaia D, Leuzzi Catia, Romito Luigi M, Andreasi Nico Golfrè, Devigili Grazia, Telese Roberta, Braccia Arianna, Gaudiano Gianfranco, Mazzetti Samanta, Invernizzi Federica, Garavaglia Barbara, Imbalzano Gabriele, Ledda Claudia, Antenucci Pietro, Gozzi Andrea, Bonato Giulia, Percetti Marco, Giannini Giulia, Sambati Luisa, Schirinzi Tommaso, D'Anna Martina, Rinaldi Domiziana, Cavallieri Francesco, Liccari Marco, Priori Alberto, Sessa Maria, Tamma Filippo, Canesi Margherita, Solla Paolo, Zappia Mario, Di Fonzo Alessio, Avanzino Laura, Quartarone Angelo, Valente Enza Maria, Pacchetti Claudio, Padovani Alessandro, Valzania Franco, Pontieri Francesco E, Suppa Antonio, Pellecchia Maria Teresa, Modugno Nicola, Comi Cristoforo, Tinazzi Michele, Tessitore Alessandro, Stefani Alessandro, Cortelli Pietro, Isaias Ioannis U, Antonini Angelo, Sensi Mariachiara, Lopiano Leonardo, Eleopra Roberto. Effects of GBA1 Variants in Patients With Parkinson's Disease and Levodopa-Carbidopa Intestinal Gel: A Nation-Wide, Multicenter, Longitudinal, "Real-World" Study. The EPIC Study.. European journal of neurology. 2025. DOI: 10.1111/ene.70179.

Предметные рубрики MeSH

Humans Male Carbidopa Female Parkinson Disease Levodopa Aged Glucosylceramidase Middle Aged Antiparkinson Agents Longitudinal Studies Retrospective Studies Gels Drug Combinations Mutation Italy

Подготовка и перевод публикации

Обработка статьи · этапы, ошибки и управление

Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.