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

To report the adaptation of an academic registry to a nationwide registry for Spinal Muscular Atrophy (SMA) to enhance data collection and compliance with regulatory recommendations.

Approach:
    Key Findings:
    • All Italian centres participated and completed training sessions.
    • High compliance was observed in the performance of the registry.
    Interpretation:

    Remove unsupported conclusions.

    Limitations:
    • Potential heterogeneity of existing data collection systems across various neuromuscular centres.
    • Different levels of expertise and resources among participating centres.
    Conclusion:

    Remove unsupported claims about the registry's value.

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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