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Multicenter Study
. 2023 Mar 21;18(1):63.
doi: 10.1186/s13023-023-02628-2.

GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders

Costanza Varesio  1   2 , Valentina De Giorgis  3   4 , Pierangelo Veggiotti  5   6 , Nardo Nardocci  7 , Tiziana Granata  7 , Francesca Ragona  7 , Ludovica Pasca  1   2 , Martina Maria Mensi  1 , Renato Borgatti  1   2 , Sara Olivotto  5 , Roberto Previtali  6 , Antonella Riva  8   9 , Maria Margherita Mancardi  10 , Pasquale Striano  8   9 , Mara Cavallin  11 , Renzo Guerrini  11 , Francesca Felicia Operto  12 , Alice Pizzolato  13 , Ruggero Di Maulo  13 , Fabiola Martino  14 , Andrea Lodi  14 , Carla Marini  15
Affiliations
Multicenter Study

GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders

Costanza Varesio et al. Orphanet J Rare Dis. .

Abstract

Background: GLUT1 deficiency syndrome is a rare, genetically determined neurological disorder for which Ketogenic Dietary Treatment represents the gold standard and lifelong treatment. Patient registries are powerful tools providing insights and real-world data on rare diseases.

Objective: To describe the implementation of a national web-based registry for GLUT1-DS.

Methods: This is a retrospective and prospective, multicenter, observational registry developed in collaboration with the Italian GLUT1-DS association and based on an innovative, flexible and configurable cloud computing technology platform, structured according to the most rigorous requirements for the management of patient's sensitive data. The Glut1 Registry collects baseline and follow-up data on the patient's demographics, history, symptoms, genotype, clinical, and instrumental evaluations and therapies.

Results: Five Centers in Italy joined the registry, and two more Centers are currently joining. In the first two years of running, data from 67 patients (40 females and 27 males) have been collected. Age at symptom onset was within the first year of life in most (40, 60%) patients. The diagnosis was formulated in infancy in almost half of the cases (34, 51%). Symptoms at onset were mainly paroxysmal (mostly epileptic seizure and paroxysmal ocular movement disorder) or mixed paroxysmal and fixed symptoms (mostly psychomotor delay). Most patients (53, 79%) are currently under Ketogenic dietary treatments.

Conclusions: We describe the principles behind the design, development, and deployment of the web-based nationwide GLUT1-DS registry. It represents a stepping stone towards a more comprehensive understanding of the disease from onset to adulthood. It also represents a virtuous model from a technical, legal, and organizational point of view, thus representing a possible paradigmatic example for other rare disease registry implementation.

Keywords: GLUT1 deficiency syndrome; Patient registry; Rare disease.

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Conflict of interest statement

P.V. received speaker fees from Eisai srl, Nestlè and Angelini Pharma. V.D.G. research fundings and speaker fees from Eisai srl, GW Pharmaceuticals, Neuraxpharm, Nutricia, Kanso, and Nestlè.

Figures

Fig. 1
Fig. 1
a, b, c, d shows examples of constantly updated simple descriptive statistics for demographic variables. a sex distribution. b age distribution. c age at onset. d age at diagnosis
Fig. 2
Fig. 2
shows geographical distribution of patients participating to the Italian GLUT1-DS Registry
See this image and copyright information in PMC

References

    1. Klepper J, Akman C, Armeno M, Auvin S, Cervenka M, Cross HJ, et al. Glut1 deficiency syndrome (Glut1DS): state of the art in 2020 and recommendations of the international Glut1DS study group. Epilepsia Open. 2020;5(3):354–365. doi: 10.1002/epi4.12414. - DOI - PMC - PubMed
    1. Larsen J, Johannesen KM, Ek J, Tang S, Marini C, Blichfeldt S, et al. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia. 2015;56(12):e203–208. doi: 10.1111/epi.13222. - DOI - PubMed
    1. Arsov T, Mullen SA, Damiano JA, Lawrence KM, Huh LL, Nolan M, et al. Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia. 2012;53(12):e204–207. doi: 10.1111/epi.12007. - DOI - PubMed
    1. Klepper J, Leiendecker B. GLUT1 deficiency syndrome–2007 update. Dev Med Child Neurol. 2007;49(9):707–716. doi: 10.1111/j.1469-8749.2007.00707.x. - DOI - PubMed
    1. Alter AS, Engelstad K, Hinton VJ, Montes J, Pearson TS, Akman CI, et al. Long-term clinical course of Glut1 deficiency syndrome. J Child Neurol. 2015;30(2):160–169. doi: 10.1177/0883073814531822. - DOI - PubMed

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