Spinal muscular atrophy (SMA) is an autosomal recessive disorder, and respiratory failure due to respiratory involvement is the most common cause of death, so respiratory management is important to reduce the incidence of associated complications and mortality [1, 2]. On June 16, 2021, China's State Drug Administration approved the listing of Risdiplam, the first oral drug for the treatment of SMA, which gave Chinese SMA patients and families new treatment options, but the clinical standard diagnosis and treatment and respiratory management program of SMA in China still needs to be improved.
On December 9, 2021, Professors Cao Ling and Yang Jian of the Children's Hospital Affiliated to the Capital Institute of Pediatrics participated in the online expert seminar together with authoritative domestic experts from neurology, respiratory medicine, emergency department, intensive care medicine and other fields.
First of all, Professor Yang Jian of the Capital Institute of Pediatrics delivered an opening speech, introduced the background and main topics of the conference, and thanked the participating experts for their hard work and attendance at the meeting to carry out online discussions.
On the basis of the first seminar, combined with the disease revision treatment drugs currently on the market in China, the expert team focused on discussing and fully combining the existing respiratory management technologies (CPR, oxygen therapy, airway clearance technology, gas incision care, nutritional support) and drug accessibility in China, especially in terms of treatment initiation timing and efficacy monitoring, and also paid more attention to operability.
Experts pointed out that in the process of secretion clearance for respiratory management, the principle of action and application principles of various airway clearance techniques (ACT) should be clarified, so that patients with SMA can clean up the airway secretions according to the condition. Peripheral ACT available in patients with SMA include chest percussion, chest vibration, postural drainage, high-frequency chest wall oscillation (HFCWO), and intrapulmonary percussive ventilation (IPV) [3]. Proximal ACT includes assisted inspiratory techniques, assisted exhalation techniques, and assisted inspiratory exhalation techniques. Assisted inspiratory technology increases PCF by increasing lung volume, and assisted inspiration is achieved with Intermittent positive pressure breathing (IPPB) devices or lung volume supplementation devices with check valves [3]. The mechanical insufflation-exsufflation (MI-E) is used by giving negative pressure immediately after providing positive pressure to the lungs, and the rapid transition from positive pressure to negative pressure simulates changes in airflow during a normal cough, helps to clear secretions, and can be used by attaching a mask or endotracheal intubation or tracheostomy tube. Experts emphasize that patients with type 1 SMA recommend daily active airway secretion cleanup, and recommend the combination of peripheral ACT and MI-E such as chest percussion, chest vibration, and postural drainage, and oral suction or suction [4]. Patients with type 2 SMA who have a weak cough may have airway discharge as needed. Patients with type 3 SMA require airway discharge during respiratory infections and weak cough.
At the seminar, Professor Cao Ling stressed that it is necessary to combine China's existing national conditions to facilitate the management of SMA patients and the landing and development of efficacy monitoring in various places.
Nowadays, with the vigorous promotion of the national new drug policy and the medical insurance policy, various localities have carried out landmark disease correction treatment drug treatment. This seminar is based on the respiratory management experience of Chinese patients, and the relevant content is updated and discussed, which will play a cross-era significance for standardizing the clinical evaluation and respiratory management of SMA patients by respiratory and intensive care unit doctors in China, and thus improving the survival and quality of life of SMA patients.
bibliography:
[1] Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care[J]. Neuromuscul Disord,2018,28(2):103-115.doi: 10.1016/j.nmd.2017.11.005
[2] Wijngaarde CA, Stam M, Otto LAM, et al. Population-based analysis of survival in spinal muscular atrophy[J]. Neurology,2020,94(15):e1634-e1644.doi: 10.1212/wnl.0000000000009248
[3] Fauroux B, Griffon L, Amaddeo A, et al. Respiratory management of children with spinal muscular atrophy (SMA)[J]. Arch Pediatr,2020,27(7s):7s29-27s34.doi: 10.1016/s0929-693x(20)30274-8
[4] Finkel RS, Mercuri E, Meyer OH, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics[J]. Neuromuscul Disord,2018,28(3):197-207.doi: 10.1016/j.nmd.2017.11.004
![【Medical Companion Travel】13 million a shot of "the most expensive drug in history" was approved for clinical treatment, and only one injection was needed to treat SMA[fig]](data:image/gif;base64,R0lGODlhAQABAIAAAP///wAAACwAAAAAAQABAAACAkQBADs=)