For the early detection of Spinal Muscular Atrophy (SMA), which is a hereditary and progressive muscle disease, at the end of 2021, the Ministry; As of May 2022, it started screening for newborn babies.
According to the information obtained, SMA screening was performed on 493 thousand 407 people who were preparing to get married so far.
As a result of these screenings, which are important for preventing the risk of disease before it occurs, couples who are determined to be at risk in terms of genetics can choose the in vitro fertilization method, the cost of which is fully covered by the state, if they wish.
HEEL BLOOD SCREENING IN MORE THAN 600K BABIES
635,108 babies were included in the newborn screenings carried out by the Ministry for the detection of SMA in the early period when the treatment was effective, and 118 babies were diagnosed with the disease. The process was initiated for the babies who were diagnosed as suitable to start treatment by the SMA Scientific Committee.
GREAT DEVELOPMENT FOR “THE FIRST DRUG THAT SMA PATIENTS CAN TAKE AT HOME”
Currently, the drug with the active ingredient “nusinersen sodium”, which was included in the reimbursement scope for type 1 SMA patients in July 2017 and type 2 and 3 SMA patients in February 2019, is offered free of charge in Turkey.
Minister of Health Fahrettin Koca, in a statement made yesterday in the Plan and Budget Committee of the Grand National Assembly of Turkey, gave the good news that with the recommendation of the SMA Scientific Committee, the procedures were started to take a second drug with oral use into use for patients.
This drug with the active ingredient “risdiplam”, which was approved by the US Food and Drug Administration (FDA) in August 2020 and by the European Medicines Agency (EMA) in March 2021, for all types of SMA patients older than 2 months, is an oral treatment in syrup form. It is also defined as “the first drug that SMA patients can take at home”.
THANKS TO SCREENINGS, 25,000 BABIES CAN ACCESS THE TREATMENT THEY NEED
In addition to SMA, every baby born in Turkey is screened for phenylketonuria, hypothyroidism, cystic fibrosis, biotinidase deficiency and Congenital Adrenal Hyperplasia (CAD), which was included in the program in January.
Hearing screenings are also done for babies, and free vitamin D and iron support is provided.
According to the data of the Ministry, with the screening and support programs carried out, approximately 25,000 babies a year access the treatment they need rapidly. These studies are also vital for babies to recover from permanent disability.