The Italian Spina Bifida registry: insights from the first 1,000 patient data
7 affiliations
- 1National Center Rare Diseases Head - Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Viale Regina Elena 299, Rome, 00161 Italy
- 2National Center Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
- 3Policlinico Universitario Fondazione Agostino Gemelli, Rome, Italy
- 4Azienda Ospedaliera Universitaria Meyer – IRCCS, Florence, Italy
- 5ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy
- 6ASBI – Associazione Italiana Spina Bifida ODV, Parma, Italy
- 7Spina Bifida Registry Group, Rome, Italy
Abstract
Background: Spina bifida (SB) results from failure of fusion of the caudal neural tube leading to complications in several organ systems and considerable disability. The causes of this disorder are heterogeneous and multifactorial. Medical and surgical management is a lifelong necessity for people with SB (pwSB) and should be provided by a multidisciplinary team. Standardized collection of data in ad hoc registries represents an important tool to (i) collect clinical and epidemiologic data, (ii) assess the clinical management including the diagnostic delay, (iii) improve patients’ care and (iv) foster research to identify new therapeutic solutions. The present study aimed to shed light on the analyses from the first 1.000 patients included in the Italian SB registry (period 2020-23) thus boosting the contribution of registries of pathology in the improvement of knowledge and research.
Methods: The Italian SB registry was established in 2020 to (i) describe the natural history of the disease, (ii) determine the clinical effectiveness of health care services, (iii) measure and monitor the quality of care of patients. It is based on a web-customizable-based system for the collection of demographics, diagnosis and genetics, patient status, therapy, quality of life and mortality data. Clinical data are updated annually during follow-up visits. Data quality is ensured by an automatic check performed by the system enabling a constant longitudinal and vertical control of data included in the registry. Descriptive statistics, including absolute and relative frequencies, mean, standard deviation, median, and percentiles, were used to summarize the quantitative variables of interest. the Pearson’s Chi-Square Test was conducted to study the association between the qualitative variables under study.
Results: A total of 1.000 pwSB were enrolled in the first 36 months after registry establishment (period: October 2020 to October 2023) from 15 Referral paediatric and adult Italian Centres; 66,8% and 33,2% of patients were enrolled in a paediatric and an adult Centre respectively (53% female versus 47% males). Forty-point-4% (40,4%) of patients was characterized by open spina bifida (OSB) while 59,6% by a closed spina bifida (CSB). Diagnoses were performed during the prenatal period (26,6%), at birth (41,7%) and within the first year of life (15%), most of these latter cases being characterized by a CSB. Associated primary malformations were reported in 57.4% of patients; among these, Arnold–Chiari II malformation was significantly associated with OSB (p < 0.001). Lesions were mainly localized in the lumbosacral region (82.3%). Plastic surgery was performed in 549 patients, predominantly among OSB cases (73.5%).
Conclusions: The analyses of our data form, allowed to highlight important demographic and clinical aspects of SB useful to inform future actions to be taken by national health care services and health professionals. The present study represents the first report describing the Italian Spina Bifida Registry, aiming at demonstrating the feasibility and successful implementation of a national registry, which may serve as a foundation for future studies with direct implications for patient care.
Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13023-026-04526-9.
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BibTeX
@article{salvatore2026italian,
title = {{The Italian Spina Bifida registry: insights from the first 1,000 patient data}},
author = {Marco Salvatore and Adele Rocchetti and Giorgia Buoncuore and Claudia Rendeli and Margherita Capriati and Maria Taverna and Tiziana Redaelli and Alessandra Leo and Raffaella Bruno and Maria Cristina Dieci and Paola Torreri and Marco Salvatore and Marco Salvatore and Adele Rocchetti and Giorgia Buoncuore and Claudia Rendeli and Margherita Capriati and Maria Taverna and Tiziana Redaelli and Alessandra Leo and Raffaella Bruno and Maria Cristina Dieci and Paola Torreri and Giuseppe Masnata and Valeria Manca and Flavio Giordano and Asia Sani and Alberto Manassero and Alice Garzotto and Emilio Casolari and Claudia Gatti and Ilaria Rossi and Adriano Ferrari and Silvia Sassi and Elena Corradini and Anna Marucco and Valeria Capra and Gianluca Piatelli and Marco Pavanello and Ferruccio Romano and Laura Grazia Valentini and Arianna Barbotti and Giuseppe Cretì and Rita Perna and Giovanni Mosiello and Giacomo Esposito and Patrizia Pisano and Alessia Peghin and Barbara Tadini and Alice Garzotto and Carmen D’ Aleo},
journal = {Orphanet Journal of Rare Diseases},
year = {2026},
month = aug,
doi = {10.1186/s13023-026-04526-9},
url = {https://doi.org/10.1186/s13023-026-04526-9},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - The Italian Spina Bifida registry: insights from the first 1,000 patient data
AU - Marco Salvatore
AU - Adele Rocchetti
AU - Giorgia Buoncuore
AU - Claudia Rendeli
AU - Margherita Capriati
AU - Maria Taverna
AU - Tiziana Redaelli
AU - Alessandra Leo
AU - Raffaella Bruno
AU - Maria Cristina Dieci
AU - Paola Torreri
AU - Marco Salvatore
AU - Marco Salvatore
AU - Adele Rocchetti
AU - Giorgia Buoncuore
AU - Claudia Rendeli
AU - Margherita Capriati
AU - Maria Taverna
AU - Tiziana Redaelli
AU - Alessandra Leo
AU - Raffaella Bruno
AU - Maria Cristina Dieci
AU - Paola Torreri
AU - Giuseppe Masnata
AU - Valeria Manca
AU - Flavio Giordano
AU - Asia Sani
AU - Alberto Manassero
AU - Alice Garzotto
AU - Emilio Casolari
AU - Claudia Gatti
AU - Ilaria Rossi
AU - Adriano Ferrari
AU - Silvia Sassi
AU - Elena Corradini
AU - Anna Marucco
AU - Valeria Capra
AU - Gianluca Piatelli
AU - Marco Pavanello
AU - Ferruccio Romano
AU - Laura Grazia Valentini
AU - Arianna Barbotti
AU - Giuseppe Cretì
AU - Rita Perna
AU - Giovanni Mosiello
AU - Giacomo Esposito
AU - Patrizia Pisano
AU - Alessia Peghin
AU - Barbara Tadini
AU - Alice Garzotto
AU - Carmen D’ Aleo
PY - 2026
DA - 2026/08/04
JO - Orphanet Journal of Rare Diseases
DO - 10.1186/s13023-026-04526-9
UR - https://doi.org/10.1186/s13023-026-04526-9
AB - Background: Spina bifida (SB) results from failure of fusion of the caudal neural tube leading to complications in several organ systems and considerable disability. The causes of this disorder are heterogeneous and multifactorial. Medical and surgical management is a lifelong necessity for people with SB (pwSB) and should be provided by a multidisciplinary team. Standardized collection of data in ad hoc registries represents an important tool to (i) collect clinical and epidemiologic data, (ii) assess the clinical management including the diagnostic delay, (iii) improve patients’ care and (iv) foster research to identify new therapeutic solutions. The present study aimed to shed light on the analyses from the first 1.000 patients included in the Italian SB registry (period 2020-23) thus boosting the contribution of registries of pathology in the improvement of knowledge and research. Methods: The Italian SB registry was established in 2020 to (i) describe the natural history of the disease, (ii) determine the clinical effectiveness of health care services, (iii) measure and monitor the quality of care of patients. It is based on a web-customizable-based system for the collection of demographics, diagnosis and genetics, patient status, therapy, quality of life and mortality data. Clinical data are updated annually during follow-up visits. Data quality is ensured by an automatic check performed by the system enabling a constant longitudinal and vertical control of data included in the registry. Descriptive statistics, including absolute and relative frequencies, mean, standard deviation, median, and percentiles, were used to summarize the quantitative variables of interest. the Pearson’s Chi-Square Test was conducted to study the association between the qualitative variables under study. Results: A total of 1.000 pwSB were enrolled in the first 36 months after registry establishment (period: October 2020 to October 2023) from 15 Referral paediatric and adult Italian Centres; 66,8% and 33,2% of patients were enrolled in a paediatric and an adult Centre respectively (53% female versus 47% males). Forty-point-4% (40,4%) of patients was characterized by open spina bifida (OSB) while 59,6% by a closed spina bifida (CSB). Diagnoses were performed during the prenatal period (26,6%), at birth (41,7%) and within the first year of life (15%), most of these latter cases being characterized by a CSB. Associated primary malformations were reported in 57.4% of patients; among these, Arnold–Chiari II malformation was significantly associated with OSB (p < 0.001). Lesions were mainly localized in the lumbosacral region (82.3%). Plastic surgery was performed in 549 patients, predominantly among OSB cases (73.5%). Conclusions: The analyses of our data form, allowed to highlight important demographic and clinical aspects of SB useful to inform future actions to be taken by national health care services and health professionals. The present study represents the first report describing the Italian Spina Bifida Registry, aiming at demonstrating the feasibility and successful implementation of a national registry, which may serve as a foundation for future studies with direct implications for patient care. Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13023-026-04526-9.
SN - 1750-1172
ER -