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The research process of spinal muscular atrophy (SMA) has entered the era of disease modification therapy (DMT) after more than 100 years of
development.
Early diagnosis, treatment outcomes and multidisciplinary cooperation of adult SMA patients, as well as refined management of the whole life cycle, have become the core themes
of SMA diagnosis and treatment.
At present, the research related to the diagnosis and treatment of SMA has achieved phased results, and with the improvement of access to therapeutic drugs, more patients with SMA will obtain longer survival and higher quality of life, which also puts forward new requirements and challenges
for SMA treatment.
In order to better convey the progress and concept of SMA diagnosis and treatment and improve the level of SMA diagnosis and treatment management, the first adult SMA summit forum was held
online on November 12, 2022.
The conference invited Professor Xu Yun from Gulou Hospital Affiliated to Nanjing University School of Medicine, Professor Shen Lu from Xiangya Hospital of Central South University, Professor Shang Huifang from West China Hospital of Sichuan University, and Professor Zhao Yuying from Qilu Hospital of Shandong University to co-chair the conference, and invited more than ten experts focusing on SMA across the country to share keynote reports and share and exchange
topics such as SMA frontier hot spots, diagnosis and treatment progress, adult treatment cohort, and clinical practice.
This article has compiled the key contents of the conference for the readers
.
At the beginning of the meeting, Professor Xu Yun, chairman of the conference, said in his speech that SMA is a rare disease, and some hospitals in China still have certain difficulties
in early diagnosis.
This conference is of great significance and provides a very good communication and learning platform
for the clinical diagnosis and treatment of SMA.
In addition, we are very pleased that effective treatments for SMA are
now available, allowing SMA patients to benefit.
Professor Xu Yun Drum Tower Hospital Affiliated to Nanjing University School of Medicine
Professor Shen Lu, chairman of the conference, said that SMA is a common disease
among rare diseases.
It is gratifying that SMA is now curable, and it can be seen from the current data that SMA treatment can obtain a better prognosis
.
It is a great honor to participate in the first Adult SMA Summit Forum with colleagues from all over the country
.
Professor Shen Lu, Xiangya Hospital, Central South University
Prof.Hong Daojun: After more than 100 years of continuous exploration, SMA research has made breakthroughs
Professor Hong Daojun The First Affiliated Hospital of Nanchang University
➤After a hundred years, SMA has entered the era of precision treatment
Starting from the history of SMA, Professor Hong reviewed the history of SMA diagnosis and treatment over the past 100 years, from the first description of the disease, to the establishment of disease typing and pathogenic genes, to the implementation of multidisciplinary management and the advent of the DMT era, mankind's understanding of SMA spans a hundred years.
In the past decade, the development of clinical research and the increasing focus on SMA have led to the publication of more than 700 SMA-related studies in 2021
.
➤Screening diagnosis and treatment, multidisciplinary consultation, and comprehensively improve the management level of SMA
SMN1 gene mutation or deletion is the main cause of SMA, and SMA can be diagnosed and differentiated byclinical evaluation and genetic testing.
Early administration of DMT on the basis of accurate diagnosis is the key to changing the disease course in patients with SMA, and the current general view is that the earlier SMA is treated
, the greater the clinical benefit.
The advent of SMA DMT drugs has promoted SMA newborn screening (NBS), and "NBS+ presymptomatic treatment" has gradually become a new trend
in SMA diagnosis and treatment.
At present, many domestic and foreign consensus articles emphasize the importance of
multidisciplinary management (MDT) for SMA patients.
In recent years, China has successively published expert consensus on SMA genetic diagnosis, respiratory management and rehabilitation management, and SMA diagnosis and treatment has entered the stage of standardization
.
➤ Therapeutic drugs are becoming more widely available, and new challenges are emerging
New treatments for SMA require a new classification of patients with SMA, focusing on the new phenotypeof the individual being treated.
The exploration of multiple therapeutic targets, the cognition of further disease genes, and individualized management strategies need to be verified by further clinical studies
.
Professor Jiang Haishan: Genetic testing helps accurate diagnosis, and multiple measures are taken to strengthen clinical identification
Professor Jiang Haishan, Southern Medical University, Nanfang Hospital
➤ Genetic testing is the gold standard for SMA diagnostics
Late-onset SMA symptoms are relatively atypical, which can lead to delayed diagnosis, and early genetic testing can shorten the time to diagnosis.
Genetic testing is the gold standard for the diagnosis of SMA, and can be performed directly when the clinical presentation is typical
.
Serum CK, electromyography, muscle ultrasound, and muscle biopsy can also be used to assist in the diagnosis of SMA
in adults.
➤ Adult patients with SMA should be differentiated from other diseases
Patients with SMA who develop adulthood are often suspected of other diseases before diagnosis, which can be summarized into three broad categories: motor neuron disease (such as motor neuron syndrome, non-5q SMA, PMA, KD), axonal peripheral neuropathy (eg, dHMN, CMT2, CIAP), and myopathy (eg, LGMD, inflammatory myopathy, BMD).Among them, the disease most important to distinguish from SMA is limb-girdle muscular dystrophy (LGMD), whose electromyography shows typical myogenic lesions, while SMA is neurogenic lesions
.
Secondly, the identification from LGMD-2G type should also be paid attention to, which is very similar to the clinical features of SMA, and even electromyography sometimes shows neurogenic damage features, but in fact, LGMD-2G type caused by TCAP gene variants, electromyography usually shows myogenic damage, and serum CK is significantly elevated
.
Therefore, whether there is a complete neuroelectrophysiological examination team, whether the examination methods are perfect, and whether the examination site is accurate are all related to
the diagnosis and differential diagnosis of SMA.
Professor Zhang Min: Real-world studies enrich the evidence for the treatment of SMA in adults, and DMT drugs bring significant benefits
Professor Zhang Min, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology
➤ Several pivotal studies confirm the efficacy and safety of nocinaxen in children and adults
Multiple natural history studies have found progressive decline in functions in patients with SMA.
The goal of treatment for adult patients with SMA is to stabilize disease progression, thereby improving motor and respiratory function, and improving quality of life
.
DMT treatment can have a beneficial effect
on the course of SMA disease.
Several pivotal studies of nocinaxen have confirmed its efficacy and safety in infants, children, adolescents, and adults, and further evidence
from real-world studies is needed.
➤ Real-world research evidence further confirms the significant benefit of nocinaxen in the treatment of SMA in adults
The growing number of real-world research data on nocinaxen in adults with SMA complements to some extent the evidencereflecting its pivotal clinical studies.
These large real-world research evidence shows that nocinaxen treatment can significantly benefit adult SMA patients, including improving or stabilizing important functions such as movement, breathing, and occlusion, preventing the deterioration of bulbar function, and improving patients' quality of life
.
For example, a meta-analysis of 30 real-world studies by Coratti G et al.
showed that nocinaxen significantly improved motor function in patients with type 2 and type 3 SMA, with HFMSE scores, RULM scores, and 6MWT in
adults and all patients.
Professor Wu Shiwen: SMA has high clinical heterogeneity, and the efficacy of DMT is affected by many factors
Professor Wu Shiwen Chinese General Hospital of the People's Liberation Army
➤ Age/course of disease/severity of disease/whether or not to receive rehabilitation treatment, affecting treatment response
SMA disease heterogeneity is high, and the clinical phenotype and severity are affected by many factors, including intragene mutations in the SMN1 gene, SMN2 copy number, mutations, methylation, and other modifiers.
DMT effectively improves the prognosis of patients with SMA, but the response to DMT drugs varies
between patients.
Studies suggest that factors such as age, course of disease, severity of disease, and rehabilitation at the time of disease modification are associated
with prognosis.
➤ Biomarkers may predict DMT efficacy
Biomarkers help to understand disease progression and may reveal biological, physiological, or pharmacological phenomenathat occur prior to clinical diagnosis.
Current biomarkers include SMN2 copy number, SMN mRNA and protein levels, neurofilament proteins (NFs), plasma protein analytes, creatine kinase (CK) and creatinine (Crn), and various electrophysiological and imaging indicators
.
Changes in NfL levels may be used as markers of response to SMA therapy in children, but their use in adults with SMA needs to be further explored
.
MyomiRs, muscle electrophysiology, etc.
may predict and assess treatment response
.
Professor Dai Yi: The guidelines are specialized and comprehensive, and the SMA standard diagnosis and treatment is improved
Professor Dai Yi, Chinese Academy of Medical Sciences and Peking Union Medical College Hospital
Guidelines for the diagnosis and treatment of adult SMA involve multiple departments.
SMA mainly affects the motor subsystem of the nervous system, but gradually causes multisystem involvement in the long-term development process, and multidisciplinary diagnosis and treatment
are emphasized in both children and adults.
In the past two decades, in addition to finding that DMT drugs can improve the prognosis of patients, another major progress is to propose multidisciplinary diagnosis and treatment, and give standardized treatment plans, which effectively improve the quality of life and life cycle
of patients.
At present, the international guidelines for rare diseases are gradually becoming specialized, and China has also begun to move closer to the international trend and enter the specialization and comprehensive development
.
With the strong support of the China Rare Disease Alliance, the first multidisciplinary diagnosis and treatment guidelines for adolescents and adults in China are currently being formulated
.
In the second half of the meeting, Professor Shang Huifang, the chairman of the conference, said that the successful development of SMA DMT drugs has brought earth-shaking changes to the life conditions of such patients, which is a milestone progress
.
Therefore, it is more necessary to continuously improve the diagnosis rate of this disease and strengthen the awareness
of early diagnosis and early treatment.
Nocinaxen is included in medical insurance, so that more SMA patients have access to medicine, and how to better use drugs and manage diseases is also an issue that clinicians need to pay attention to in their treatment, and strive to reach a consensus
on this.
This conference focused on the experience sharing of adult SMA treatment cohorts in major centers in China, hoping that clinicians can learn from the experience of other centers, enrich their clinical experience, and better serve
patients.
Professor Shang Huifang Subsequently, West China Hospital of Sichuan University, Professor Zhao Yuying, Chairman of the Conference In 2016, the world's first SMA DMT drug - nocinaxen was approved, which brought great benefits to SMA patients in China and even around the world, especially after Nocinaxen was included in the national medical insurance directory in 2021, Chinese SMA patients no longer have to look at the ocean and sigh, and more adult SMA patients began to receive further diagnosis and treatment
.
It is hoped that this conference will enhance the exchanges between various centers and disciplines, penetrate each other and broaden horizons
.
Professor Zhao Yuying With the popularization of SMA DMT drugs and the improvement of MDT diagnosis and treatment level in Qilu Hospital of Shandong University, more and more Chinese voices provide an important reference for the clinical practice of SMA diagnosis and treatment in China
.
Dr.
Li Jing from the First Affiliated Hospital of Sun Yat-sen University, Professor Zhao Yuying from Qilu Hospital of Shandong University, Professor Wang Junling from Xiangya Hospital of Central South University, Professor Luo Jing from the First Affiliated Hospital of Chongqing Medical University, and Dr.
Hu Ying from the First Affiliated Hospital of Anhui Medical University shared their experience
in the diagnosis and treatment of adult SMA in clinical practice.
Dr.
Li Jing Professor Zhao Yuying of the First Affiliated Hospital of Sun Yat-sen University Professor Wang Junling of Qilu Hospital of Shandong University Professor Luo Jing of Xiangya Hospital of Central South University The First Affiliated Hospital of Chongqing Medical University Dr.
Hu Ying The experience sharing of the First Affiliated Hospital of Anhui Medical University was almost unanimous
.
SMA needs to emphasize early diagnosis and early treatment to avoid serious neurological deficits, resulting in the inability to obtain better treatment and improvement results; Some indicators of quantitative evaluation of efficacy require some innovation and change in adult patients, so they need to be studied and observed in great detail in future clinical work
.
Summary
The conference comprehensively and systematically introduced the latest research progress in the field of SMA and shared the valuable experience
of adult SMA diagnosis and treatment.
Let us see the exploration process
of such a classic rare disease from clinical to basic and back to clinic.
We look forward to all parties working together to bring benefits to SMA patients and their families
.
Looking forward to the 2nd Adult Spinal Muscular Atrophy Summit Forum next year!
