If a couple is a carrier, there is a 1/4 chance that their child will be sick. The price of the SMA treatment drug, which costs 700,000 yuan per vial, has been reduced. How can this disease be prevented?

1. In the recent medical insurance negotiations, 7 rare disease drugs were successfully negotiated, including a rare disease drug that costs 700,000 yuan per injection and a high-priced drug for the treatment of spinal muscular atrophy (SMA) called nusinersen sodium

It is worth mentioning that the "sky-high-priced drug" nusinersen, a drug for the treatment of rare spinal muscular atrophy, which costs only RMB 205 in Australia but as much as RMB 700,000 per injection in China, was included in the medical insurance after negotiations failed last year. In addition, agalsidase alpha, a drug for the treatment of Bray's disease, with an annual fee of up to one million yuan, was also included.

Although the specific price is still unknown, according to experts, based on the limited payment range, the annual treatment costs of all drugs in the national medical insurance catalogue do not exceed RMB 300,000, and the above-mentioned drugs have all been reduced to the "floor price."

2. What is spinal atrophy?

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease caused by mutations in the survival motor neuron 1 (SMN1) gene, which leads to degeneration of motor neurons in the brainstem and anterior horn of the spinal cord, resulting in progressive, symmetrical muscle weakness and atrophy in children.
Currently, the incidence of SMA among surviving newborns in Europe and the United States is 1/10,000, and there are approximately 1,000 new cases of SMA in my country each year.

According to the motor ability of SMA patients, they are mainly divided into those who cannot sit alone (Type I), those who can sit alone (Type II) and those who can walk alone (Type III). SMA is a systemic disease that, in addition to causing muscle weakness, also affects children's respiratory function, digestive function, bone health and nutritional status. Children with SMA mainly show symptoms of progressive weakness and atrophy of the trunk and proximal limb muscles, but the manifestations of each clinical classification vary greatly.
Early screening can provide early diagnosis for SMA children and provide timely treatment before clinical symptoms appear to prevent irreversible damage to the children's organs.
Accurate diagnosis can be achieved through the clinical characteristics of each type of SMA patient, as well as auxiliary examinations such as serum creatine kinase (CK) measurement, electromyography, muscle pathological biopsy and genetic testing technology.

Spinal muscular atrophy is a genetic disease that is lethal in infants and will eventually cause the death of the child.
The main pathogenic gene of this disease is the SMN1 gene, which is an autosomal recessive genetic disease with a very high carrier rate in the population. Couples planning to have a baby with a family history should pay special attention to screening for this disease.

If both husband and wife are carriers, there is a 1/4 chance of giving birth to a child with the disease. The most common gene causing this disease is the homozygous deletion of exon 7 of the SMN1 gene, and a small number of cases are caused by point mutations.

3. How is this disease treated? Why is it an orphan drug?
SMA is a rare disease. In foreign countries, drugs used and mainly used to treat rare diseases, such as nusinersen, are usually called orphan drugs, and the cost of treatment is usually relatively high.
Each patient needs to be injected with 6 injections of nusinersen per year. The previous medical cost was about 4.2 million yuan, and lifelong injections are required.
Rare diseases have a small number of patients, low market demand, and high R&D costs. Few pharmaceutical companies pay attention to the research and development of drugs to treat them. Therefore, drugs for treating rare diseases are figuratively called "orphan drugs."
Currently, the main source of medicines is imported from abroad, and the prices are expensive due to high R&D costs and small market demand.
If the medical insurance negotiations for the rare disease drug that costs 700,000 yuan per injection are successful, the price will be reduced to the floor price, which will undoubtedly be a good thing for patients and their families.
However, it is necessary to promote the establishment of a multi-channel financing and guarantee mechanism including basic medical insurance, major disease medical insurance, medical assistance, commercial health insurance, social mutual assistance, charitable donations and corporate support, and accelerate the exploration of innovative models of rare disease medical insurance that are in line with my country's national conditions.

Fourth, it should be emphasized that only about 5% of rare diseases have treatments, and primary prevention is the best means of prevention.

There are nearly 7,000 rare diseases confirmed internationally, including amyotrophic lateral sclerosis (ALS), hemophilia (the "glass man"), multiple sclerosis (the "puppet man"), Huntington's disease (the involuntary dancing disease), spinal muscular atrophy, PNH (paroxysmal nocturnal hemoglobinuria), and so on.
Screening and detection of spinal muscular atrophy are of great significance to reducing birth defects and successfully giving birth to healthy offspring.
For such patient families, the third-generation IVF, namely preimplantation genetic testing (PGT), can be used to block the problem. This technology performs genetic testing on in vitro fertilized embryos and selects embryos without relevant genetic abnormalities to implant into the uterine cavity, helping patients give birth to healthy offspring.