The High Authority for Health proposes extending neonatal screening for spinal muscular atrophy to all babies. This decision is welcomed by the AFM-Téléthon, which points out that there is an urgent need to add it to the 13 diseases screened for at birth.
In the face of spinal muscular atrophy, gene therapy must be administered as early as possible
Affecting approximately 1 in 10,000 births, spinal muscular atrophy is a rare genetic disease characterized by irreversible neuromuscular degeneration. Infants with SMA are asymptomatic at birth and usually show the first signs within a few weeks. In the most severe and common forms, the child dies before the age of 2.
Today, three gene therapy treatments are available, two of which are validated and reimbursed for presymptomatic babies. Clinical trials and the use of these treatments in the many countries that have been screening for SMA at birth for several years have demonstrated their much greater effectiveness when administered before the onset of symptoms of the disease. We talked about this in the latest edition of the Telethon.
The High Authority for Health has therefore taken action to assess the opportunity of integrating SMA into the national neonatal screening programme.
Effective and widely accepted screening
Currently in Europe, the median diagnostic time for SMA is between 3 and 5 months after birth. However, the DEPISMA pilot study conducted in Europe on the possible inclusion of SMA in neonatal screening showed the feasibility of screening with a reduction in the median diagnostic time to 7 days. A significant reduction that made it possible to start treatment before the age of one month in several newborns, thus optimizing their chances of survival and their quality of life.
At the basis of this screening, a reliable test has a sensitivity greater than or equal to 95% and a specificity close to 100%, according to the studies selected. Screening for SMA can be carried out at the same time as the 13 other diseases screened at birth, using a few drops of dried blood on blotting paper. It can be combined with that of Severe Combined Immunodeficiency (SCID), previously recommended by the HAS, since it uses the same technique: a quantitative PCR (polymerase chain reaction).
In detail, the Depisma study launched by AFM-Téléthon and the University Hospitals of Strasbourg and Bordeaux demonstrated that technical feasibility was accompanied by perfect social acceptance with 98.5% of consenting couples.
HAS recommends systematic screening for SMA
In light of these elements, the HAS recommends screening for SMA in the general population as part of the national neonatal screening program. It recommends that this screening be implemented, as far as possible, concomitantly with that of DICS.
The HAS also recommends that psychological support from a professional familiar with SMA be offered to families as soon as the diagnosis is announced, including for parents of children with a less severe or later form of the disease, not eligible for treatment.
AFM-Telethon recalls the urgency of implementing this screening
AFM-Téléthon welcomes the positive opinion of the High Authority of Health and is now calling for urgent implementation! The association recalls that without waiting for the official publication of this opinion, the previous Minister of Health had already publicly committed to generalizing SMA screening at birth, by summer 2025 at the latest. AFM-Téléthon requests that this commitment be taken up by the future government and that all means be mobilized to reduce this excessively long delay as much as possible.
“Every day counts to prevent babies born with the most severe form of spinal muscular atrophy from continuing to die. We call on the authorities to implement neonatal screening for spinal muscular atrophy as soon as possible in all maternity wards in Europe to save babies wherever they are! It is urgent that Europe catches up and puts an end to the failure to assist babies in danger that babies born in our country are currently victims of.” declares Laurence Tiennot-Herment, President of AFM-Telethon.
On the European continent, systematic screening for spinal muscular atrophy at birth is already in effect in Central Europe, Austria, Belgium, Croatia, Denmark, Estonia, Latvia, Lithuania, Norway, the Netherlands, Poland, Portugal, Turkey, Slovenia, Sweden, Luxembourg, Switzerland, Russia and Ukraine.
