Spinal Muscular Atrophy Newborn Screening (SMA)

Description of impact

In recent years, Latvia has significantly expanded the scope of newborn screening, enabling the early diagnosis of rare diseases. Rare diseases are one of the priority areas in the Public Health Guidelines for 2021–2027. The research team at Riga Stradiņš University (RSU) has significantly accelerated the SMA screening analysis within the newborn screening program. Since 2021, four children (including two identified during the RSU project) have been given the opportunity to lead full and healthy lives, thanks to the early detection of SMA and the timely administration of appropriate treatment.

Spinal muscular atrophy, caused by the deletion of exon 7 in the SMN1 gene, is a lethal autosomal recessive neuromuscular disorder with a prevalence of 1:6000–1:10000. The disease has several subtypes, with Type I being the most common and clinically severe. Without specific therapy, the expected survival for Type I SMA is less than two years. It is crucial to diagnose the disease presymptomatically, as specific therapies have been available since 2019. Studies have demonstrated that initiating therapy at a presymptomatic stage significantly improves long-term outcomes for patients.

Stakeholders

The Newborn and Their Family, Research Organizations, Hospitals, Latvian Rare Disease Alliance

Benefits to stakeholders

The Newborn and Their Family:
Early diagnosis allows treatment to begin before symptoms appear, which saves lives and significantly improves the quality of life.

RSU:
The RSU research team has been one of the key drivers in conducting research to ensure that Spinal Muscular Atrophy (SMA) screening is included in the newborn screening program as soon as possible. In 2021, Latvian newborns' parents were given the opportunity to participate in an expanded newborn screening program, which aimed to analyze approximately 10,000 samples.

In cases where screening results were positive, BKUS invited parents and the newborn for a consultation, where:

The disease was molecularly confirmed
Genetic counseling was provided
Further patient care was organized based on recommendations from the Rare Disease Coordination Center
Several significant outcomes were achieved within this project:

A population study was conducted on SMA incidence within the newborn cohort in Latvia.
A genetic testing method suitable for newborn screening was validated, considering the short turnaround time and large sample volume.
Early-diagnosed patients were able to begin therapy, significantly improving their survival and quality of life.
Children’s Clinical University Hospital (BKUS):
During the pilot project, BKUS:

Conducted the initial sample processing
In cases of abnormal screening results, provided consultations for the patient and their family
Confirmed the disease molecularly
In confirmed cases, organized further patient care
Prepared recommendations and necessary documentation for the expansion of the newborn screening program
As of April 1, 2023, BKUS has fully implemented SMA newborn screening in Latvia.

Latvian Rare Disease Alliance Representatives:
Promote public awareness of rare diseases
Provide emotional and informational support to families of SMA patients
Facilitate dialogue between families and government institutions

Impact activity - Collaboration

Newborn Screening for Parents as Mutation Carriers:
It is planned to determine whether prospective parents are carriers of specific gene mutations that could potentially cause rare genetic diseases in their children.

Focus on Treatable Diseases:
Currently, screening primarily targets diseases for which effective treatment methods are available, ensuring that diagnosed cases can be addressed early and effectively.

Plan to Expand Carrier Screening:
New Diseases in Screening:
The expanded carrier testing will include genetic diseases such as:

Cystic fibrosis – a chronic lung and digestive system disease;
Fragile X syndrome – the most common inherited cause of intellectual disabilities;
Other rare diseases for which treatment is available.
Collaboration Established with Two Companies
Partnerships have been formed with two companies that have provided support for further research on the implementation of SMA screening in Latvia.

Impact date	2019
Category of impact	Quality of life impacts
Impact level	Benefit