Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophy - Report - MDSpire

Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophy

  • By

  • Giorgia Coratti

  • Chiara Bravetti

  • Gianpaolo Cicala

  • Chiara Cutrì

  • Valeria A. Sansone

  • Adele D’Amico

  • Claudio Bruno

  • Sonia Messina

  • Federica Ricci

  • Tiziana Mongini

  • Michela Coccia

  • Elena Pegoraro

  • Riccardo Masson

  • Angela Berardinelli

  • Caterina Agosto

  • Antonella Pini

  • Antonio Varone

  • Mara Turri

  • Massimiliano Filosto

  • Giacomo Comi

  • Lorenzo Maggi

  • Irene Bruno

  • Maria Grazia D'Angelo

  • Antonio Trabacca

  • Veria Vacchiano

  • Michele Sacchini

  • Delio Gagliardi

  • Eustachio D’Errico

  • Lucia Ruggiero

  • Lorenzo Verriello

  • Filippo Brighina

  • Matteo Garibaldi

  • Riccardo Zuccarino

  • Vincenzo Nigro

  • Roberta Battini

  • Giulia Ricci

  • Sabrina Siliquini

  • Alberto A. Zambon

  • Betty Polikar

  • Maria Carmela Pera

  • Marika Pane

  • Eugenio Mercuri

  • ITASMAc Working Group

  • June 17, 2026

  • 0 min

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Clinical Report: Adapting Disease Registries for Spinal Muscular Atrophy Research

Overview

The adaptation of the iSMAc/ITASMAc initiative has successfully transitioned an academic registry to a nationwide platform for Spinal Muscular Atrophy (SMA). This effort enhances data collection and compliance with regulatory recommendations, facilitating improved research and clinical decision-making.

Background

The introduction of disease-modifying therapies (DMTs) for Spinal Muscular Atrophy (SMA) necessitates robust and structured registries to monitor treatment efficacy and safety. Existing data infrastructures have proven inadequate, prompting the need for new registries that can standardize data collection across various treatment centers. This initiative aims to address these challenges and support ongoing research and regulatory needs.

Data Highlights

All Italian centers participated in the initiative, completing training sessions to ensure data reliability. A critical analysis indicated high compliance among the centers involved.

Key Findings

  • The registry was adapted to comply with recent regulatory recommendations.
  • Training sessions were conducted to ensure data reliability and accuracy.
  • All participating centers agreed to the initiative and completed the necessary training.
  • The adaptation maintained the reliability of the academic registry while expanding its scope nationally.
  • The registry serves as a valuable resource for research and clinical decision-making.

Clinical Implications

The structured approach to registry adaptation enhances the quality of data collected, which is essential for evaluating long-term treatment outcomes in SMA. Clinicians can utilize this data to inform treatment decisions and contribute to ongoing research efforts.

Conclusion

The successful adaptation of the SMA registry demonstrates the feasibility of maintaining data integrity while expanding its reach, ultimately benefiting both research and clinical practice.

Related Resources & Content

  1. Voigt-Müller et al., Brain, 2022 -- Insights into Treatment Patterns for Spinal Muscular Atrophy: Findings from the SMArtCARE Registry
  2. Voigt-Müller et al., Brain, 2022 -- Advancements in Spinal Muscular Atrophy Treatment: Findings from the SMArtCARE Registry
  3. Drug Safety, 2020 -- Opportunities and Obstacles in Pharmacovigilance through Registry Data in Multiple Sclerosis: Insights Gained from the REGIMS Multicenter Initiative
  4. Drug Safety, 2019 -- Utilization of Patient Registries: A Valuable Yet Underexploited Tool for Drug Assessment
  5. FDA, 2023 -- Real-World Data: Assessing Registries to Support Regulatory Decision-Making for Drug and Biological Products
  6. New England Journal of Medicine, 2017 -- Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
  7. European Journal of Paediatric Neurology, 2024 -- 2024 update: European consensus statement on gene therapy for spinal muscular atrophy
  8. Real-World Data: Assessing Registries to Support Regulatory Decision-Making for Drug and Biological Products
  9. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy | New England Journal of Medicine
  10. 2024 update: European consensus statement on gene therapy for spinal muscular atrophy - European Journal of Paediatric Neurology

Original Source(s)

Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophy

  • by Giorgia Coratti, Chiara Bravetti, Gianpaolo Cicala, Chiara Cutrì, Valeria A. Sansone, Adele D’Amico, Claudio Bruno, Sonia Messina, Federica Ricci, Tiziana Mongini, Michela Coccia, Elena Pegoraro, Riccardo Masson, Angela Berardinelli, Caterina Agosto, Antonella Pini, Antonio Varone, Mara Turri, Massimiliano Filosto, Giacomo Comi, Lorenzo Maggi, Irene Bruno, Maria Grazia D'Angelo, Antonio Trabacca, Veria Vacchiano, Michele Sacchini, Delio Gagliardi, Eustachio D’Errico, Lucia Ruggiero, Lorenzo Verriello, Filippo Brighina, Matteo Garibaldi, Riccardo Zuccarino, Vincenzo Nigro, Roberta Battini, Giulia Ricci, Sabrina Siliquini, Alberto A. Zambon, Betty Polikar, Maria Carmela Pera, Marika Pane, Eugenio Mercuri, ITASMAc Working Group

  • June 17, 2026

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