In recent years, tremendous progress has been made in the diagnosis and treatment of spinal muscular atrophy. This consists of a newborn screening program and a drug program that includes three therapies, including gene therapy. Thanks to the possibility of implementing treatment as early as the pre-symptomatic stage, young patients gain a chance for a fully normal life.
SMA can already be treated pre-screening. It's a chance for patients diagnosed at screening to live a normal life
Published Dec. 4, 2023 12:01
fot. iStock
Spinal muscular atrophy is a rare, genetically determined disease. Thanks to bold reimbursement decisions, the model of care for SMA patients is one that people struggling with other diseases would like to see in their therapies.
The drug program became operational in 2019, and all three therapies registered for the treatment of SMA have been reimbursed under it since last September. In addition, a nationwide newborn screening program for spinal muscular atrophy has been in effect since last April. So far, more than 65,000 children have already been screened, and 89 of them have been diagnosed with the disease.
- We have rapid diagnosis of patients in the form of newborn screening. Tests are done in the first week of life. We have therapies available, including gene therapy. Once we detect the disease, we are immediately able to implement targeted treatments that prevent the disease from progressing. These children grow up exactly like their healthy peers," mentions Professor Monika Gos of the Department of Screening and Metabolic Diagnostics at the Mother and Child Institute.
So the situation for children with SMA and their families has changed dramatically over these past few years. Until a few years ago, the disease was diagnosed very late. There was also no treatment available.
- These people were really doomed to symptomatic treatment in the form of treatments and physiotherapy. At this point, information about the disease is given in many cases even before symptoms appear. This is difficult information for parents. However, the prospect of access to treatment and rapid inclusion is optimistic," adds Prof. Monika Gos.
One-year-old Laura, daughter of Patrycja Orlikowska, was the seventh child in Poland to receive gene therapy. The disease was detected in the girl as a result of screening tests.
- The treatment was given to her on the 24th day of life, before visible symptoms of the disease appeared. Today Laura is able to sit up, quaddle, climb, try to stand by furniture and take a few steps. This means that her development does not differ from that of healthy children. However, we are constantly conducting rehabilitation," informs Patrycja Orlikowska.
- Our greatest satisfaction comes from being able to treat SMA pre-symptomatically. This is when the treatment effects are best. This is what the newborn screening program gives us," assesses Professor Katarzyna Kotulska-Jóźwiak of the Department of Neurology at the Children's Health Center, chairwoman of the Coordinating Team for the Treatment of Spinal Muscular Atrophy Patients.
