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Tãtaru et al. Rare Dis Orphan Drugs J 2024;3:19 Rare Disease and
DOI: 10.20517/rdodj.2024.08
Orphan Drugs Journal

Opinion Open Access

Incorporating a new disease in the newborn
screening programs in Europe: the spinal muscular

atrophy case study

2
Elena-Alexandra Tãtaru 1,4 , Marie-Christine Ouillade , Chun-Hung Chan 3,4 , David A. Pearce 3,4,5
1
French National Institute of Health and Medical Research (Inserm), Paris 75013, France.
2
The French Muscular Dystrophy Association (AFM Téléthon), Paris 75013, France.
3
Sanford Research, Sioux Falls, SD 57104, USA.
4
The International Rare Disease Research Consortium (IRDiRC), Paris 75013, France.
5
Sanford School of Medicine, University of South Dakota, Sioux Falls, SD 57105, USA.
Correspondence to: Elena-Alexandra Tãtaru, French National Institute of Health and Medical Research (Inserm), 101 Rue de
Tolbiac, Paris 75013, France, E-mail: alexandra.tataru@ejprd-project.eu
How to cite this article: Tãtaru EA, Ouillade MC, Chan CH, Pearce DA. Incorporating a new disease in the newborn screening
programs in Europe: the spinal muscular atrophy case study. Rare Dis Orphan Drugs J 2024;3:19. https://dx.doi.org/10.20517/
rdodj.2024.08
Received: 29 Feb 2024 First Decision: 23 Apr 2024 Revised: 17 May 2024 Accepted: 4 Jun 2024 Published: 2 Jul 2024

Academic Editor: Daniel Scherman Copy Editor: Fangling Lan Production Editor: Fangling Lan

Abstract
Patient advocacy organizations have a forefront role in ensuring that patients’ voices and needs are embedded as a
constitutive basis in drug development, diagnosis, and policy recommendations in the healthcare ecosystem. Their
sustained involvement in accelerating the policy changes for inclusion of additional diseases in the newborn
screening (NBS) programs, supporting harmonization in terms of number of screened diseases across the
European Union, constitutes a driving force for advancing the quality of care and the management of rare diseases
by aligning NBS policies and practices internationally. In the current European landscape, NBS varies significantly
across regions and countries. Patient advocacy organizations are acting to alert healthcare authorities of the
existing inequity in NBS and recommending that additional diseases be added to the national NBS programs. Here,
we describe the state of play for Spinal Muscular Atrophy (SMA) as a model for advancing NBS for rare diseases
where a treatment regime is available. Ultimately, a broad understanding of NBS for SMA will additionally serve as
a means to understand the financial impact of early therapeutic intervention for a rare disease.

Keywords: Newborn screening, rare diseases, patient advocacy organizations, spinal muscular atrophy

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
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