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From "surviving" to "living well", focus on the quality of life of patients with spinal muscular atrophy (SMA) in China

 Last Update: 2023-02-02
 Source: Internet
 Author: User

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The disease-modifying treatment drug nocinaxen significantly improved the health-related quality of life (HRQoL)
of SMA patients in China.
About 90% of patients reported stable or improved
condition after medication.

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder clinically classified into types
0-4 based on age of onset and maximum motor milestone.
Regardless of the type, patients present with progressive muscular atrophy and muscle weakness, often accompanied by multi-system organ damage such as respiratory, digestive, and nutritional, and the quality of life is extremely low
.
As a serious disabling and fatal disease, SMA was included in the national "First Rare Disease List" in 2018 ^[1].

The world's first DMT drug, bringing the dawn of life to SMA patients, in recent years, with the development of precision medicine, SMA drug treatment has made unprecedented progress
.
In February 2019, the world's first disease-modifying therapy (DMT) drug nocinaxen sodium injection for the treatment of 5q SMA was approved for marketing in Chinese mainland, opening a new era
of precision treatment of SMA in China.

Nocinaxen is an antisense oligonucleotide (ASO) that is administered by intrathecal injection and acts directly on the central nervous system at
the site of origin of the disease.
Nocinaxen mainly targets the ISS-N1 site in the premRNA intron 7 of the SMN2 gene, and nocinaxen promotes the retention of exon 7 of the mRNA transcript of the SMN2 gene by targeting specific binding to this site, thereby improving the production of full-length functional SMN protein for the treatment of 5q SMA ^[1].

Figure 1: Nocinaxen mechanism
of action A NUMBER OF KEY CLINICAL STUDIES (ENDEAR, CHERISH, NURTURE) HAVE CONFIRMED THAT NOCINAXEN TREATMENT CAN SIGNIFICANTLY IMPROVE EVENT-FREE SURVIVAL AND OVERALL SURVIVAL TIME IN PATIENTS WITH SMA1, AND LONG-TERM TREATMENT CAN ACHIEVE MAXIMUM EXERCISE CAPACITY (SUCH AS SITTING ALONE, STANDING, WALKING, ETC.
) IN SOME TYPE 1 PATIENTS IN THEIR NATURAL MEDICAL HISTORY, WHILE IMPROVING OR STABILIZING ALL CLINICAL TYPES AND IMPORTANT FUNCTIONS SUCH AS MOVEMENT AND BREATHING IN PATIENTS WITH SMA OF A WIDE RANGE OF AGES.
Presymptomatic treatment can enable children with SMA who may develop type 1 or type 2 to almost reach a similar level of motor development as normal children, altering the natural course of SMA ^[2-4].

In adult patients with SMA, nocinaxen also performs well
.
The study conducted by Hagenacker et al.
is the largest real-world study Nocinaxen has ever conducted in adult patients with SMA, including a total of 173 adolescents and adults (16-65 years old).

Results showed that motor function scores (HFMSEs) improved with the duration of treatment, and 96 percent of treated patients achieved clinically significant improvement or stabilization of motor function ^[5].

Nocinaxen has attracted much attention since its launch, and the high cost of treatment has discouraged many families
.
Happily, in December 2021, Nocinasen successfully entered the national medical insurance drug list, becoming the first reimbursable treatment option for families of children with SMA in China, giving more families hope to the family
.

Improve the quality of life of SMA patients, so that patients not only "survive", but also "live well", and use Chinese data to support treatment decisions in China With the marketing and use of therapeutic drugs such as nocinaxen, the exercise capacity and survival time of SMA patients have been greatly improved.
It also prompts patients to put forward higher requirements for treatment, not only to "survive", but also to "live well"
.
Previous foreign studies have shown that nocinaxen treatment can significantly improve the quality of life of
SMA patients.
A recent study published in Intractable Rare Dis Res evaluated the quality of life of SMA patients in China and examined the real-world impact of innovative treatments on SMA patients in China ^[6].

Figure 2: Screenshot
of the study: 332 patients
enrolled in Beijing Mei'er SMA Care Center (Meier) from December 2019 to September 2020.
All patients were divided into pharmacological and non-pharmacological groups, with the pharmacotherapy group including patients receiving nocinaxen during the study period; The non-pharmacological treatment group included patients
who did not receive nocinaxen and received only conventional therapy.
Three rounds of surveys were conducted in December 2019, April 2020 and September 2020 to assess the patient's disease-specific characteristics and assess HRQoL using the Child Quality of Life Scale (PedsQL
, the higher the score, the better the quality of life).

The impact of SMA disease itself on HRQoL

A total of 270 patients completed the third round of evaluation
.
As shown in Table 1, the severity of the disease has a negative impact on HRQoL, and the average scores of patients with type I, II, III SMA are 46.
17, 48.
48, and 54.
26, respectively, and the lowest score is in patients with type I
.

When the HRQoL of patients was evaluated by motor function stratification, the average scores of patients who could not sit alone, could sit alone, and walked were 46.
66, 48.
60 and 55.
40, respectively, and there were statistically significant differences in scores between the three states, with patients who could walk scoring the highest
.

Table 1: HRQoL stratified by (A) SMA disease type and (B) motor function status

Effect of the therapeutic drug Nocinaxen on HRQoL

A total of 322 patients were enrolled in the first round of evaluation, including 51 in the drug treatment group
.
270 patients participated in the final round of investigation, of which 61 patients were treated
with nocinaxen.
The increase in the number of patients in the drug treatment group compared to baseline indicates increased patient acceptance of new treatments
.
At the same time, a higher proportion of patients in the pharmacotherapy group used nasal/gastric tubes for nutritional support and ventilators, which meant that patients with more severe SMA were more urgently treated with therapeutic drugs
.

Looking back at the changes in the health status of patients in the drug treatment group and non-drug treatment group over the past 6 months, the proportion of patients who achieved improvement in the nocinaxen treatment group was much higher than that in the non-drug treatment group
.
Patients in the non-pharmacological group continued to deteriorate over time; In contrast, more patients benefited from nocinaxen treatment in the pharmacotherapy group (Figure 3).

It can be seen from the figure that after 10 months of treatment, about ninety percent of SMA patients in the nocinaxen treatment group have stable or improved their condition, while the proportion of non-drug treatment group who can maintain stable or improved condition is less than 40%
on average.

Figure 3: Changes
in condition over the past 6 months by regimen compared with the non-pharmacological treatment group achieved a higher HRQoL score and continued to improve over time, as observed in SMA patients with all disease types (Figure 4
。 HRQoL scores in the non-drug treatment group continued to deteriorate
over time.

Figure 4: HRQoL Scores
by Treatment In addition, multiple linear regression analysis was performed to identify factors
influencing HRQoL scores.
The best model analysis showed that the disease typing variables with or without nocinaxen and SMA were statistically significant (Table 2).

Among them, the use of nocinaxen significantly improved HRQoL score; Patients with confirmed type I or II SMA had significantly lower
HRQoL scores.

Table 2: Multiple Linear Regression: Predictions
of HRQoL Scores Overall, this study suggests that different disease types, motor function status, and treatment regimens used in SMA patients contribute to differences in HRQoL
.
HRQoL scores decrease
with increasing disease severity.
Patients with SMA may benefit
from treatment with nocinaxen to slow disease progression and improve HRQoL.

For the first time, a large sample of Chinese SMA patients was included to compare the changes
in quality of life (HRQoL) of Chinese SMA patients after receiving nocinaxen compared with traditional treatments.
This real-world study confirmed the efficacy of nocinaxen in patients with various types of SMA in China, showing consistency
.

★

brief summary

★

SMA is a rare disease that has attracted great attention
in China due to its severity and high cost of treatment.
In recent years, thanks to the country's attention to rare disease groups and the introduction of policies, the treatment of SMA has been unprecedentedly developed
.
Nocinaxen is the first SMA treatment drug, which has changed the dilemma of SMA patients in China that no drug is available; At the same time, the latest research shows that Nocinaxen can effectively improve the quality of life of SMA patients in China, so that patients can not only "survive", but also "live well"!

References:

[1] MAO Shanshan.
Development of diagnosis and treatment of spinal muscular atrophy in China in the era of precision medicine[J].
Journal of Clinical Pediatrics.
2022; 40(3): 165-169.
[2]Finkel RS, Mercuri E, Darras BT, et al.
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy[J].
N Engl J Med.
2017 Nov 2; 377(18):1723-1732.
[3]Mercuri E, Darras BT, Chiriboga CA, et al.
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy[J].
N Engl J Med.
2018 Feb 15; 378(7):625-635.
[4]De Vivo DC, Bertini E, Swoboda KJ, et al.
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study[J].
Neuromuscul Disord.
2019 Nov; 29(11):842-856.
[5]Hagenacker T, et al.
Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study.
Lancet Neurol.
2020; 19(4):317-25.
[6]Duan C, Ai D, Xu Q, et al.
Assessment of health-related quality of life in patients with spina muscular atrophy in China[J].
Intractable Rare Dis Res.
2022 Nov; 11(4):189-195.

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