Articles

Understanding SMA: A Rare Disease with a Global Footprint

SMA affects ~1 in 10,000 live births and is one of the leading genetic causes of infant mortality.² It is caused by mutations in the SMN1 gene, which result in a deficiency of the survival motor neuron (SMN) protein — essential for the maintenance of motor neurons.³

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SMA is classified into several types based on age of onset and severity:

• Type 1 (Werdnig-Hoffmann disease): The most severe form, appearing in infancy. Without treatment, life expectancy is often less than two years.

• Type 2: Onset between 6 and 18 months. Children can sit but typically cannot walk unaided.

• Type 3 (Kugelberg-Welander disease): Milder form with onset after 18 months. Individuals can walk but may lose mobility over time.

• Type 4: Adult-onset SMA, typically with milder symptoms.⁴

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Treatment Evolution: From Injections to Oral Therapies

The treatment landscape for Spinal Muscular Atrophy (SMA) has undergone a remarkable transformation, moving from invasive and limited options to more accessible and disease-modifying therapies. Historically, SMA management focused on supportive care and symptom relief, but the introduction of therapies that target the genetic root of the disease—namely, the deficiency of survival motor neuron (SMN) protein—has revolutionized outcomes.

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Among the first breakthroughs was Nusinersen (Spinraza), an antisense oligonucleotide administered via intrathecal injection directly into the spinal fluid. It works by modifying the splicing of the SMN2 gene to boost SMN protein production and is approved for patients of all ages and SMA types⁵. While effective, its delivery method poses challenges.

Next came Onasemnogene abeparvovec (Zolgensma), a one-time gene therapy delivered intravenously. It introduces a functional copy of the SMN1 gene using an adeno-associated virus vector, offering potentially curative effects for infants under two years old.⁶ However, despite its promise, Zolgensma presents a significant financial barrier— it is one of the most expensive treatments in the world. This cost can limit access, especially in healthcare systems with constrained reimbursement policies.

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The most recent addition is Risdiplam (Evrysdi), the first oral therapy for SMA, approved for patients as young as two months. Taken daily as a liquid, Risdiplam also enhances SMN protein production by targeting SMN2 splicing, but with the added benefit of systemic distribution and ease of administration, making it a more practical long-term option for many families.⁷

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Market Momentum and Growing Demand

The SMA therapeutics market is projected to grow from $4,4 billion in 2024 to $13,09 billion by 2030, reflecting a compound annual growth rate (CAGR) of 18%⁸. Oral SMA therapies like Risdiplam are expected to grow at a CAGR of 18.61% over the same period⁹.

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A key driver of this growth is the global effort to implement universal newborn screening for SMA.¹⁰ Early diagnosis is critical: initiating treatment before symptoms appear can significantly improve motor function and long-term outcomes. Organizations like the European Alliance for Newborn Screening in SMA are advocating for mandatory SMA screening in all European countries by 2025. Meanwhile, countries like the UK and regions in the US are pioneering genomic-based newborn screening programs that include SMA.

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Despite these advances, screening is not yet universally available. Barriers include infrastructure, funding, and technical challenges in SMN2 copy number determination. However, the momentum is clear — and as more newborns are diagnosed early, the demand for scalable, affordable treatment options will continue to rise.

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The Role of Generic APIs in Expanding Access

While innovation has brought effective therapies to market, access remains uneven — particularly in low- and middle-income countries. This is where generic API suppliers play a transformative role.

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Enabling Cost-Effective Manufacturing

Generic APIs allow multiple manufacturers to produce finished dosage forms, increasing competition and driving down costs. This is essential for rare diseases like SMA, where treatment affordability can be a barrier to access, but also for other essential treatments.

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Supporting Local and Regional Supply Chains

By supplying high-quality APIs to formulators around the world, generic manufacturers help decentralize production and reduce reliance on single-source imports. This enhances supply chain resilience and ensures more consistent availability.

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Scaling to Meet Growing Demand

In case of SMA newborn screening expands and diagnosis rates increase, the need for scalable production becomes urgent. Generic API suppliers are essential to meeting this rising demand sustainably.  

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Upholding Quality and Compliance

Generic APIs are produced under stringent quality standards, ensuring safety and efficacy. Suppliers invest in robust manufacturing processes, analytical validation, and traceability — all critical for rare disease treatments.

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Generics in the Healthcare Ecosystem: A Broader Perspective

Generics account for approximately 80–90% of prescriptions dispensed in many developed healthcare systems¹¹. Despite their dominance in volume, they represent a much smaller share of total pharmaceutical spending — making them essential for cost-effective healthcare.¹²

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Their impact includes:

• Lowering healthcare costs for patients and payers across all of the therapeutic areas.

• Improving medication adherence by making treatments more affordable and accessible.

• Expanding access to essential medicines in underserved regions.

• Fostering innovation by freeing up resources for R&D investment.

• In rare diseases, where treatment costs can be prohibitively high, the entry of generics — and the APIs that enable them — is a critical step toward equity.

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From Molecule to Patient: A Shared Responsibility

At Polpharma API, we believe that access to treatment should not depend on geography or income. As a supplier of high-quality generic APIs, we are committed to:

• Ensuring consistent, scalable supply of generic APIs.

• Partnering with FDF manufacturers to accelerate availability of affordable therapies.

• Supporting health systems and patients through reliable, long-term collaboration.

• Looking Ahead: Building a More Inclusive Future — not only for SMA care, but for a wide range of therapeutic areas including oncology, diabetes, and other high-impact conditions.

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The progress in SMA treatment is undeniable — but so is the need to strengthen the systems that support it. As therapies evolve, so must the supply chains behind them. Generic APIs are more than just components; they are critical drivers of access, affordability, and equity in care.

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By working together across the value chain, we can ensure timely and equitable access to transformative therapies—supporting sustainable growth, operational efficiency, and improved health outcomes.

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[1] National Institute of Neurological Disorders and Stroke. (n.d.). Spinal muscular atrophy. National Institutes of Health. Retrieved October 31, 2025, from https://www.ninds.nih.gov/health-information/disorders/spinal-muscular-atrophy

[2] National Institute of Neurological Disorders and Stroke. (n.d.). Nusinersen (Spinraza®) – Spinal Muscular Atrophy (SMA). National Institutes of Health. Retrieved October 31, 2025, from https://www.ninds.nih.gov/about-ninds/what-we-do/impact/ninds-contributions-approved-therapies/nusinersen-spinrazar-spinal-muscular-atrophy-sma

[3] National Institute of Neurological Disorders and Stroke. (n.d.). Spinal muscular atrophy. National Institutes of Health. Retrieved October 31, 2025, from https://www.ninds.nih.gov/sites/default/files/2025-05/spinal-muscular-atrophy.pdf

[4] National Institute of Neurological Disorders and Stroke. (n.d.). Spinal muscular atrophy. National Institutes of Health. Retrieved October 31, 2025, from https://www.ninds.nih.gov/health-information/disorders/spinal-muscular-atrophy

[5] National Institute of Neurological Disorders and Stroke. (n.d.). Nusinersen (Spinraza®) – Spinal Muscular Atrophy (SMA). National Institutes of Health. Retrieved October 31, 2025, from https://www.ninds.nih.gov/about-ninds/what-we-do/impact/ninds-contributions-approved-therapies/nusinersen-spinrazar-spinal-muscular-atrophy-sma

[6] Mayo Clinic. (n.d.). Onasemnogene abeparvovec-xioi (intravenous route). Retrieved October 31, 2025, from https://www.mayoclinic.org/drugs-supplements/onasemnogene-abeparvovec-xioi-intravenous-route/description/drg-20465053

[7] Roche. (n.d.). Evrysdi (risdiplam). Retrieved October 31, 2025, from https://www.roche.com/solutions/pharma/productid-423934d3-782a-4102-884a-1db9fafc8ae8

[8] Grand View Research. (n.d.). Spinal muscular atrophy treatment market size report, 2030. Retrieved October 31, 2025, from https://www.grandviewresearch.com/industry-analysis/spinal-muscular-atrophy-sma-treatment-market

[9] Mordor Intelligence. (n.d.). Spinal muscular atrophy treatment market size, growth & share report 2030. Retrieved October 31, 2025, from https://www.mordorintelligence.com/industry-reports/spinal-muscular-atrophy-treatment

[10] Data Insights Market. (2025). Newborn screening for SMA and SCID: Harnessing emerging innovations for growth 2025–2033. Retrieved October 31, 2025, from https://www.datainsightsmarket.com/reports/newborn-screening-for-sma-and-scid-1174658

[11] U.S. Food and Drug Administration. (n.d.). Generic drugs: Questions & answers. Retrieved October 31, 2025, from https://www.fda.gov/drugs/frequently-asked-questions-popular-topics/generic-drugs-questions-answers

[12] U.S. Food and Drug Administration. (n.d.). Generic drugs: Questions & answers. Retrieved October 31, 2025, from https://www.fda.gov/drugs/frequently-asked-questions-popular-topics/generic-drugs-questions-answers

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