• On 6th of June 2024, the regional government of Sicily (Italy) approved adding SMA to the regional NBS programme (http://www.gurs.regione.sicilia.it/Gazzette/g24-30/g24-30.pdf)
• Switzerland started long-awaited screening for SMA in late June. It covers all children born in Switzerland and Liechtenstein 
• On 10th of July 2024, France’s HAS (Haute autorité de santé) recommended adding SMA to the country’s national NBS programme. Please see the press release here: https://www.has-sante.fr/jcms/p_3529765/fr/la-has-propose-l-extension-du-depistage-neonatal-a-l-amyotrophie-spinale.

IRDiRC is excited to share the latest publication, "Newborn screening in Mexico and Latin America: present and future." This paper reviews the progress made in implementing and expanding newborn screening (NBS) programs across Latin America, with a special focus on Mexico.

Read the publication here: https://www.oaepublish.com/articles/rdodj.2024.02

Despite significant advancements over the past 50 years, many children in the region still do not fully benefit from this vital public health strategy. The study also explores the potential future of NBS in light of new technologies like genomic sequencing, considering the economic and technological constraints in the region. Dive into our findings and join the conversation on how we can improve NBS for all children in Latin America.

On June 25th 2024, a high-level round table on neonatal screening took place in the Senate of Romania in Bucharest.

Titled “We put good first: Round table on prevention through extended neonatal screening”, the event brought together clinicians, patient groups, health authorities, and politicians who all discussed the need to expand the Romanian neonatal screening programme.

The participants highlighted that the current screening panel that includes only three conditions is insufficient and places Romania in one of the last places in Europe. Clinicians stressed that the bloodspot screening programme should be expanded to include 25–27 conditions.

Claudia Mihaela Dumitru, representing Romanian organisation Asociația SMACare, spoke about their advocacy efforts. She stressed how important and how cost-effective neonatal screening is to the SMA Community, given that the cost of an expanded screening programme in Romania would be relatively low.

Kacper Rucinski from the European Alliance for Newborn Screening for Spinal Muscular Atrophy presented the expansion of the newborn screening programme in Poland that was increased from two conditions in 1994 to 30 nowadays. He outlined the steps that led to the introduction of screening for spinal muscular atrophy, and how the SMA screening programme has been set up.

Around 20 children are diagnosed with SMA in Romania each year, and more than 500 people with SMA are thought to be living in the country. Romanian health system already funds several treatments for SMA. We remain hopeful that this important event will lead to the much-needed expansion of neonatal bloodspot testing in Romania that will include specifically spinal muscular atrophy.

All together. One goal.

A new article about Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy  - a nonrandomized controlled trial is published.

Researchers demostrated in this nonrandomized controlled trial the effectiveness of newborn screening for infants with SMA in a real-world-setting. 

For further information please look here:

https://pubmed.ncbi.nlm.nih.gov/38587854/

To read the full text, please click here: https://jamanetwork.com/journals/jamapediatrics/article-abstract/2817302