Spinal muscular atrophy
optimizing clinical outcomes with novel therapies and role of pharmacists: a review
Journal name: World Journal of Pharmaceutical Research
Original article title: Spinal muscular atrophy
The WJPR includes peer-reviewed publications such as scientific research papers, reports, review articles, company news, thesis reports and case studies in areas of Biology, Pharmaceutical industries and Chemical technology while incorporating ancient fields of knowledge such combining Ayurveda with scientific data.
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Subtitle: optimizing clinical outcomes with novel therapies and role of pharmacists: a review
Original source:
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Payal Dasgupta, Bhupen Kalita and Kamallochan Barman
World Journal of Pharmaceutical Research:
(An ISO 9001:2015 Certified International Journal)
Full text available for: Spinal muscular atrophy
Source type: An International Peer Reviewed Journal for Pharmaceutical and Medical and Scientific Research
Doi: 10.20959/wjpr202111-21346
Copyright (license): WJPR: All rights reserved
Download the PDF file of the original publication
Summary of article contents:
1) Introduction
Spinal muscular atrophy (SMA) is a severe inherited neuromuscular disorder characterized by the degeneration of spinal motor neurons, leading to significant motor function loss. Historically, management of SMA relied on supportive care; however, recent advancements in novel therapies have transformed treatment approaches, dramatically impacting patient outcomes and survival rates. Intensive early diagnosis and timely initiation of therapeutic interventions are critical in optimizing clinical results. Pharmacists play a vital role in integrating these new therapies into comprehensive treatment plans, ensuring they provide accurate information regarding the safety, efficacy, and real-world experiences of these medications.
2) Importance of Early Diagnosis and Genetic Screening
Early diagnosis of SMA can significantly influence the effectiveness of disease-modifying therapies (DMTs). Delayed diagnosis can hinder treatment benefits since irreversible damages to motor neurons occur as the disease progresses. Previously, SMA was diagnosed based on symptom presentation; however, the importance of genetic screening and newborn testing has increased. Presently, genetic tests can confirm the diagnosis by detecting mutations in the SMN1 gene, allowing for earlier interventions. With the inclusion of SMA in the US Federal Recommended Uniform Screening Panel in 2018, various states have implemented genetic testing during newborn screening, emphasizing the need to treat eligible patients as soon as possible to maximize the impact of DMTs.
3) Multidisciplinary Approach to Care
Caring for patients with SMA necessitates a multidisciplinary approach, involving healthcare professionals across various disciplines, including neurology, respiratory therapy, and nutrition. The complexity of SMA management means coordinating a care team comprising specialists trained to address the unique challenges of this condition. Pharmacists are key players in this collaboration, providing vital education and support with medication management. This includes optimizing pharmacy workflows for safely preparing and administering treatments, conducting medication reconciliation, and ensuring adherence to prescribed regimens for optimal therapeutic outcomes.
4) Overview of Novel Therapies
Three prominent DMTs for SMA have emerged, each with specific mechanisms of action and administration methods: nusinersen, onasemnogene abeparvovec, and risdiplam. Nusinersen is administered via intrathecal injection, aimed at increasing functional SMN protein production. Onasemnogene abeparvovec is a gene therapy delivered through intravenous infusion that replaces the defective SMN1 gene. Risdiplam is the first oral medication for SMA, a small-molecule splicing modifier that enhances SMN protein levels. Each therapy presents unique logistical considerations and potential adverse effects, necessitating ongoing pharmacist involvement in monitoring patient safety throughout the treatment journey.
5) Conclusion
The advancements in DMTs for SMA have revolutionized the management of this life-altering disease, offering new hope to patients and families. The clinical landscape now emphasizes the urgency of early diagnosis and the importance of a coordinated, multidisciplinary care approach. Pharmacists play a pivotal role in supporting healthcare teams by offering expertise in medication management, patient education, and care coordination. As research continues and new therapeutic options become available, the role of pharmacists will be essential in optimizing therapeutic outcomes and improving the lives of individuals affected by SMA.
FAQ section (important questions/answers):
What is Spinal Muscular Atrophy (SMA) and its types?
SMA is a group of inherited neuromuscular disorders leading to motor neuron degeneration. Types range from severe (type 1) to mild (type 4), affecting infants to adults with varied symptoms and severities.
What are the novel therapies available for SMA?
Novel therapies include Nusinersen, Onasemnogene abeparvovec, and Risdiplam, which modify disease progression. These treatments aim to enhance the production of the SMN protein crucial for motor neuron survival.
How important is early diagnosis for SMA treatment?
Early diagnosis of SMA is critical as delayed treatment can limit the benefits of disease-modifying therapies. Genetic screening and newborn testing are now emphasized for quicker intervention.
What role do pharmacists play in SMA management?
Pharmacists are essential in managing SMA, including advising on drug therapies, ensuring proper medication handling, and assisting with patient education regarding treatment options and potential side effects.
What are the common symptoms of SMA types 1 and 2?
Type 1 SMA presents with severe hypotonia and inability to sit, often leading to early respiratory failure. Type 2 SMA allows independent sitting but no walking, with progressive muscle weakness.
How has the COVID-19 pandemic affected SMA care?
The pandemic has disrupted multidisciplinary appointments and access to necessary therapies, posing challenges in ongoing care and emotional support for patients with SMA and their families.
Glossary definitions and references:
Scientific and Ayurvedic Glossary list for “Spinal muscular atrophy”. This list explains important keywords that occur in this article and links it to the glossary for a better understanding of that concept in the context of Ayurveda and other topics.
1) Study (Studying):
Studying involves examining, investigating, or researching a specific subject. In the biomedical field, studying new treatments, diseases, and patient responses is crucial for advancing medical knowledge, improving therapies, and ultimately enhancing healthcare outcomes for patients suffering from conditions like SMA.
2) Disease:
Diseases encompass a wide range of conditions that affect human health. In this document, the focus is primarily on spinal muscular atrophy (SMA) and its related types. Understanding diseases allows healthcare professionals to tailor treatment strategies, provide effective support, and promote the well-being of affected individuals and their families.
3) Drug:
Drugs are substances that cause physiological or psychological effects when introduced into the body. In the context of this document, the focus is on specific drugs developed or prescribed for treating SMA. Understanding their mechanisms and side effects is essential for effective patient management and safety.
4) Vomiting:
Vomiting is a common adverse effect associated with various medications and illnesses, including some drugs used for treating SMA. It is a reflex action that forces the contents of the stomach upward, often causing discomfort. Monitoring and managing side effects like vomiting are essential for effective patient care and adherence to treatment.
5) Table:
In academic literature, tables present data in a structured format for easy comparison and analysis. The referenced tables in this text summarize critical information regarding SMA types, clinical presentations, and assessment scales. Tables enhance clarity and help readers quickly grasp complex concepts, aiding in understanding treatment options and outcomes.
6) Education:
Education plays a vital role in healthcare, particularly in informing patients, families, and caregivers about disease management and treatment options. It includes providing knowledge about SMA therapies, drug administration, side effects, and health maintenance strategies. Adequate education empowers individuals to make informed decisions for better health outcomes.
7) Post:
The term 'post' can refer to a subsequent event or development following a medical intervention or treatment. In the context of the text, it might indicate post-treatment assessments or follow-ups to monitor efficacy and side effects of therapies, ensuring that patients are receiving appropriate care after drug administration.
8) Fever:
Fever is a common symptom that indicates an underlying infection or inflammatory response. In SMA patients receiving certain therapies, fever may occur as a side effect, necessitating monitoring and management. Understanding fever's implications is critical in clinical settings to promote patient safety and ensure effective recovery.
9) Death:
Death is the cessation of biological functions that sustain life and can be a devastating outcome for individuals with severe diseases. In the context of SMA, it underscores the importance of timely diagnosis and intervention with novel therapies to improve survival rates and enhance quality of life for affected patients.
10) Mutation:
A mutation refers to a change in the genetic code that can lead to various health conditions, including spinal muscular atrophy (SMA). Specifically, mutations in the SMN1 gene are responsible for SMA. Understanding genetic mutations is crucial for diagnosis, risk assessment, and the development of targeted therapies.
11) Water:
Water is essential for life and plays a vital role in maintaining bodily functions. In the context of the text, water may relate to hydration, particularly for patients with SMA who may have feeding difficulties. Ensuring adequate hydration is important for overall health and recovery during treatment.
12) Birth:
Births refer to the occurrence of new life, marking significant moments in population health. In the context of SMA, understanding the incidence and prevalence of cases at birth compensates for genetic screening strategies and emphasizes the importance of early diagnosis and intervention strategies for effective treatment.
13) Blood:
Blood is critical for transporting nutrients, oxygen, and waste products throughout the body. In the management of SMA, blood tests may be utilized to monitor the effects of treatments, assess organ function, and identify potential side effects, highlighting the importance of blood analysis in therapeutic care.
14) Ras (Rash):
A rash is a common dermatological symptom that can arise from various medical conditions or as a side effect of treatments. In the context of SMA therapies, monitoring for rashes is important as they can indicate adverse reactions to medications, requiring timely intervention and patient support.
15) Viru:
Though 'viru' seems incomplete, it may refer to various pathogenic viruses that can complicate the health of individuals with SMA, especially during respiratory infections. Understanding virus interactions with health conditions is important for disease management and implementing preventive measures to safeguard vulnerable patient populations.
16) Surrounding:
Surrounding refers to the conditions or environment affecting a person or situation. In healthcare, understanding the surrounding factors, including family support, socio-economic status, and access to care, is essential for providing holistic and effective management for patients with SMA or other conditions.
17) Antibiotic (Antibacterial):
Antibiotics are medications used to treat bacterial infections and are critical in managing complications in patients with SMA, who may be prone to respiratory infections. The appropriate use of antibiotics helps prevent severe health issues and infections, ensuring better overall care for individuals with neuromuscular disorders.
18) Toxicity:
Toxicity refers to the degree to which a substance can harm humans or animals. In the context of SMA treatments, monitoring for toxicity is essential when administering drugs like nusinersen or onasemnogene, ensuring that the benefits of the medications outweigh potential harm to the patient.
19) Activity:
Activity generally refers to movements or actions that a person can perform. For SMA patients, maintaining activity levels is crucial for physical health. Therapeutic interventions aim to improve motor function, emphasizing the importance of physical activity in enhancing quality of life for these individuals.
20) Science (Scientific):
Science is the systematic study of the structure and behavior of the physical and natural world through observation and experimentation. In medicine, scientific research underpins the development and validation of treatment options, such as novel therapies for spinal muscular atrophy, driving advancements in patient care and public health.
21) Family:
Family plays a critical role in the healthcare journey of patients with SMA. Support from family members can substantially affect the patient’s emotional wellbeing, adherence to therapeutic protocols, and overall coping strategies. Healthcare professionals must involve families in education and decision-making processes for comprehensive care.
22) Reason:
Reason refers to the underlying cause or explanation for a certain condition or action. Understanding the reason behind illness, such as the genetic defects causing SMA, is fundamental for implementing targeted therapies and developing strategies to manage symptoms and improve quality of life for patients.
23) Powder:
Powder can refer to the form in which certain medications are provided, such as risdiplam, which comes as a powder for reconstitution. Understanding the proper handling and reconstitution techniques of powdered medications is critical for pharmacists and caregivers to ensure safe and effective administration.
24) India:
India is noted in the text as the location of the authors, referencing their affiliation with the Girijananda Chowdhury Institute of Pharmaceutical Science. Highlighting the geographical context helps understand the diverse research initiatives in SMA and emphasizes the global implications of local studies and findings.
25) Glass:
Glass may refer to the containers used to store or deliver medications, such as the glass ampoules for certain therapies. Understanding glass as a material is important in healthcare to ensure proper storage and handling of sensitive medications, minimizing contamination and preserving their efficacy during transportation.
26) Sam (Sham):
In clinical research, 'sham' refers to a control group receiving a placebo or non-active treatment that mimics the procedure. This helps to assess the true efficacy of new therapies against the placebo effect, ensuring that observed outcomes are genuinely due to the intervention being tested.
27) Fear:
Fear encompasses the emotional responses patients and families experience regarding serious health conditions like SMA. Addressing fear is crucial in medical care, as it can affect adherence to treatment, decision-making, and overall mental health. Providing support and education can alleviate fear and empower patients.
28) Pain:
Pain is an unpleasant sensory experience that can be associated with various medical conditions, including SMA. Effective pain management is vital in enhancing the quality of life for patients. Understanding and addressing pain through various therapies ensures better patient compliance and overall satisfaction with care.
29) Announcement:
An announcement in a medical context often refers to the communication of important updates related to clinical trials, treatment approvals, or results from research studies. Announcements convey critical information to healthcare providers and patients, impacting treatment decisions and expectations in managing diseases like SMA.
30) Inflammation:
Inflammation is the body's response to injury or infection and can be a significant factor in many disease processes. In SMA patients, monitoring inflammation is important to manage symptoms and potential complications, guiding treatment plans and interventions tailored to individual patient needs.
31) Transformation (Transform, Transforming):
Transformed indicates a significant change or advancement in a particular area. In the context of SMA, the introduction of novel therapies has transformed treatment outcomes, shifting from supportive care to disease-modifying treatments that offer hope for improved survival and motor function in affected individuals.
32) Observation:
Observation refers to the careful monitoring of patients' conditions and responses to treatment. In clinical trials and practice, observation is essential for assessing treatment efficacy and side effects, guiding adjustments in therapeutic approaches, and ensuring optimal patient care for conditions like SMA.
33) Practising (Practicing):
Practicing encompasses the actions taken by healthcare professionals in applying their knowledge to patient care. In the context of this text, practicing pharmacists play a crucial role in managing SMA therapies, ensuring safety, efficacy, and adherence to treatment plans while educating patients and families.
34) Knowledge:
Knowledge is the information, understanding, and skills gained through experience or education. In healthcare, knowledge about diseases like SMA and their treatments is essential for professionals to provide effective care, educate patients and caregivers, and adapt treatment plans based on evolving research findings.
35) Swallowed:
Swallowed refers to the process of taking in substances, such as medications or food, by mouth. For SMA patients, effective administration of oral medications like risdiplam is critical for treatment success, highlighting the importance of patient education on proper intake techniques.
36) Composite:
Composite refers to something made up of various parts or elements. In clinical research, composite measures are used to assess multiple outcomes, such as treatment efficacy in SMA, providing a more comprehensive understanding of how therapies impact overall patient health and functional abilities.
37) Language:
Language is the system of communication used to convey information. In healthcare, clear and accessible language is paramount for educating patients and families about medical conditions, treatment options, and health management, ensuring all parties understand critical information for effective collaboration in care.
38) Bleeding:
Bleeding is the loss of blood, which can occur as a side effect of certain treatments or as a complication of medical conditions. In the context of SMA therapies, monitoring for bleeding is crucial to ensure patient safety and address any potentially serious complications promptly.
39) Kalita:
Kalita refers to one of the authors, Bhupen Kalita, associated with the research mentioned in the text. Highlighting individuals involved in scholarly work emphasizes the collaborative nature of research in addressing complex medical issues, including the advancements in treating spinal muscular atrophy (SMA).
40) Animal:
Animal studies are often pivotal in biomedical research, serving as models to understand disease mechanisms, treatment efficacy, and safety profiles of pharmaceuticals. Research involving animals provides critical insights for developing therapies for human conditions, such as spinal muscular atrophy (SMA), before advancing to human trials.
41) Field:
Field encompasses a particular area of study or profession. In the context of SMA research, the field of neurology, genetics, and pharmacology plays a significant role in advancing understanding and treatment options. Collaboration across disciplines is vital for developing effective therapies for complex diseases.
42) Visit:
A visit often refers to an appointment with healthcare providers to assess, diagnose, or treat conditions. For SMA patients, regular visits to multidisciplinary teams are essential to monitor disease progression, implement treatment changes, and provide holistic care tailored to the patient's evolving needs.
43) Party:
Party may refer to a group involved in a particular cause or event. In healthcare and research, different parties, including healthcare providers, researchers, and patient advocacy groups, collaborate to advance understanding and treatment of diseases like SMA, ensuring comprehensive support for affected individuals and families.
44) Fainting (Fainted):
Faint can describe something weak or dim, such as lower responses or signals in clinical assessments for conditions like SMA. It may also indicate symptoms patients experience during treatment. Monitoring faint signs and responses is critical for healthcare providers to ensure patient safety and effective management.
45) Hand:
Hand often refers to physical interaction capabilities, crucial for motor skills. In SMA, assessing hand function is vital as it directly affects patients' abilities to perform daily tasks. Improving and maintaining hand functionality through therapy and adaptive techniques is essential for enhancing quality of life.
46) Food:
Food represents the sustenance consumed for energy and nutrition, which can be particularly important for SMA patients who may require specialized diets due to swallowing difficulties. Nutrition management is critical in supporting overall health, growth, and response to treatment in individuals with SMA.
47) Gold (Golden):
Gold may refer to a standard of excellence, often depicted as a quality benchmark in healthcare practices. In the context of SMA treatment, 'gold standards' might include best practices for therapeutic interventions or supportive care. Understanding benchmark therapies helps propel advancements in patient care.
48) Male:
Male refers to the male biological sex and can be relevant in certain medical discussions, including genetic conditions like SMA. Understanding gender differences in health patterns, responses to therapies, and disease prevalence is vital for developing tailored medical solutions for both males and females.
49) Life:
Life underscores the biological existence and quality of living. In healthcare, particularly concerning SMA, ensuring a better quality of life for patients is paramount. Novel therapies aim not only to prolong life but also to improve functional outcomes and overall patient satisfaction.
Other Science Concepts:
Discover the significance of concepts within the article: ‘Spinal muscular atrophy’. Further sources in the context of Science might help you critically compare this page with similair documents:
Supportive care, Early diagnosis, Adverse reaction, Economic burden, Spinal Muscular Atrophy, Nutritional support, Pharmacist role, Follow up care, Multidisciplinary team, Neuromuscular disorder, Motor neuron.