The hereditary amyloidosis market is estimated to be valued at USD 1.23 Bn in 2024 and is expected to reach USD 2.7 Bn by 2031, growing at a compound annual growth rate (CAGR) of 11.8% from 2024 to 2031. The increasing prevalence of hereditary amyloidosis around the world along with growing awareness regarding the disease and its treatment options among the patients are fueling the market growth.

Market Driver - Improved Diagnostic Techniques Leading to Higher Detection of Hereditary Amyloidosis

Improving diagnostic technologies have enabled physicians to more accurately diagnose cases of hereditary amyloidosis in recent years. Advances in genetic testing, imaging modalities and biochemical analysis have provided clinicians with minimally invasive and highly effective tools to confirm hereditary amyloidosis where previously it may have gone undiagnosed.

Genetic testing allows the specific amyloid precursor protein mutations associated with each hereditary subtype to be identified from a simple blood sample. This has helped establish a definitive diagnosis for families with a known history and genetic predisposition.

Armed with these improved testing options, clinicians are able to proactively screen at-risk relatives of known carriers. Large multi-generational cohort studies have also implemented population-level genetic screening programs to identify previously unknown mutation carriers. As a result, hereditary amyloidosis is being diagnosed far more frequently than in the past, even in early, presymptomatic stages of the disease.

Overall, revolutionary diagnostic tools have turned what was once hidden into diseases that can now be openly discussed, managed and studied within communities. This driver will continue propelling increased hereditary amyloidosis detection worldwide and profoundly shape how physicians, scientists and patients approach these conditions.

Market Driver - Introduction of Novel Drugs Like RNAi and Antisense Oligonucleotides Enhancing Treatment Efficacy

After decades of limited therapeutic options for hereditary amyloidosis patients, breakthroughs in drug development are bringing real hope. Traditionally, treatments focused on managing symptoms and organ damage but lacked any effect on the underlying pathology. However, new biologic agents designed to specifically inhibit amyloid precursor protein production show exciting promise.

RNA interference (RNAi) and antisense oligonucleotide technologies allow researchers to precisely downregulate expression of the mutant genes driving amyloid formation. In animal and early human testing, these novel compounds have demonstrated safety and encouraging signs of halting further amyloid accumulation when administered systematically. Without the toxic amyloid deposits, early evidence suggests reduction or stabilization of organ impairment is achievable—a vast improvement over previous standards of care.

This breakthrough has energized both the pharmaceutical industry and research community, spurring widespread investment into further optimizing lead compounds and developing new molecular targets. As the field rapidly advances, forthcoming generations of RNAi and antisense drugs may provide even stronger, more durable responses. While significant work remains, these novel treatment strategies offer realistic hope that hereditary amyloidosis could transform from a bleak diagnosis to one with a promising future.

Market Challenge - Expensive Therapies Limiting Patient Access and Burdening Healthcare Systems

One of the major challenges being faced in the hereditary amyloidosis market is the high cost of available therapies. Developing effective treatments for this rare genetic condition requires extensive research and clinical trials. As a result, many of the approved drugs come with hefty price tags, often exceeding $100,000 per year. While these therapies have shown to significantly improve outcomes for patients, their pricing remains out of reach for many.

With healthcare budgets already under immense pressure, the costs of these medications are placing an unsustainable financial strain on national healthcare systems. This is restricting patient access and limiting the number of people who are able to receive potentially life-saving therapies.

Insurance companies and governments struggle to bear the expense, leaving many patients with little or no coverage options. Pharmaceutical companies must work on developing more affordable treatment alternatives if broader patient access is to be achieved. Otherwise, amyloidosis will continue affecting lives and weighed heavily on overall healthcare spend.

Market Opportunity - Untapped Potential in Developing Countries with Improving Healthcare Infrastructure

One area primed for future growth is developing economies in regions like Asia, Latin America, Middle East and Africa. While amyloidosis afflicts populations globally, diagnosis rates and available treatment remain woefully low in many developing countries due to limited healthcare resources and infrastructure in the past. However, with rapid economic development and government investments in healthcare systems, medical capabilities and standards of care are enhancing markedly across emerging markets.

A rising middle class is gaining greater access to private health insurance as well. As expertise in rare diseases increase and newly approved amyloidosis drugs become accessible in these regions, a tremendous unmet need is primed to be addressed.

The hereditary amyloidosis market is thus poised to tap into this untapped potential as improved access to specialized medical care and novel therapies take hold. Multinational pharmaceutical companies should work on regulatory registrations and partnerships with local health providers to capitalize on these opportunities earlier for sustainable long-term growth in developing economies.

Hereditary Amyloidosis is a rare and progressive disease characterized by abnormal protein deposits in tissues and organs. Treatment typically follows a staged approach based on disease severity and organ involvement.

For early-stage patients without organ dysfunction, prescribers commonly focus on symptom management through supportive medications. As the disease advances to Stage 2 with mild cardiac or renal involvement, disease-modifying therapies may be considered. Tafamidis (Vyndaqel) has emerged as a preferred option at this stage due to its ability to slow the accumulation of amyloid deposits and reduction of cardiac biomarkers, effectively delaying progression for many patients.

Stage 3 indicates moderate organ dysfunction requiring additional treatment. At this line, immunomodulatory drugs like Melphalan (Alkeran) or Doxycycline are commonly used off-label. Due to safety risks, Melphalan is usually reserved for cardiac amyloidosis with specific eligibility. For resistant cases, stem cell transplants have shown some success in halting further progression by replacing affected cells.

The most critical late Stage 4 often warrants combined transplant-chemotherapy approaches under close supervision. While no single therapy provides a cure, prescribers seek options that can maximize quality of life by stabilizing disease processes through customized treatment plans tailored to individual patient circumstances.

As the disease advances, treatments aim to slow or halt further amyloid deposition. For stage 1 disease with mild to moderate kidney or liver impairment, the first-line treatment is oral tafamidis. Tafamidis is a transthyretin stabilizer that prevents transthyretin tetramers from dissociating into toxic monomers. This stops further amyloid formation and slows disease progression. Many patients experience prolonged stabilization or improvement in organ function on tafamidis.

For stage 2 disease with moderate organ damage, the addition of immunomodulatory drugs to tafamidis may provide added benefits. Drugs like melphalan and dexamethasone are commonly used in combination with tafamidis. They reduce abnormal monoclonal protein levels and amyloid load. This dual approach helps preserve organ function better than monotherapy alone.

In advanced stage 3 disease requiring organ transplants, stem cell transplants may offer the best chance of survival. A non-myeloablative stem cell transplant following chemo/radiation conditioning with melphalan provides the graft versus plasma cell effect. This can eliminate the pathogenic plasma cells and stabilize disease long-term in responsive patients. Aggressive treatment is warranted at this late stage to prevent post-transplant amyloid recurrence.

Focus on developing novel therapies: Many big pharmaceutical companies have focused their resources on developing novel, targeted therapies to treat hereditary amyloidosis. For example, Alnylam Pharmaceuticals developed patisiran (Onpattro), the first-ever RNAi therapeutic approved by the FDA for hereditary ATTR amyloidosis in 2018. This novel approach specifically targets and silences mutant mRNA before production of problematic protein.

License/acquire promising early-stage programs: Large pharma players have adopted the strategy of licensing or acquiring promising early-stage programs from small biotechs to bolster their pipelines. For example, in 2019 Pfizer acquired Prothena's antibody-based program PRX004 for ATTR amyloidosis after positive phase 1 study results.

Focus on orphan drug designations: Most companies pursuing therapies for hereditary amyloidoses have sought orphan drug designation from FDA to provide valuable incentives like 7 years of market exclusivity upon approval. This lowers financial risks for additional clinical trials.

Expand into new therapeutic areas: As understanding of pathogenic protein aggregates improves, some players are expanding their therapies into related amyloid diseases like ATTR amyloidosis. For example, after success in ATTR, Alnylam is now conducting trials of patisiran in ATTR cardiomyopathy and non-neuropathic manifestations. This spreads commercial potential across wider patient populations.

Insights, By Drug Type: Emergence of RNAi Therapy as a Promising Treatment Approach

In terms of drug type, RNA Interference (RNAi) therapeutics is expected to hold 49.3% share of the market in 2024, owning to its promising therapeutic potential. RNAi therapy has revolutionized the treatment landscapes of hereditary amyloidosis through targeted silencing of pathogenic genes. The introduction of RNAi drugs allows precise modulation of genes responsible for amyloid protein overproduction and aggregation.

Compared to conventional treatments, RNAi therapy offers a more specific mode of action with minimal off-target effects. Extensive research and clinical trials have validated the safety and efficacy of RNAi drugs over the years. Notable successes of RNAi therapeutics in pre-clinical and clinical studies have boosted confidence among clinicians and patients. Availability of effective RNAi therapy options have enabled transition from supportive care to targeted disease-modifying treatment approach for hereditary amyloidosis.

The advent of optimized RNAi delivery systems also addresses previous limitations regarding stability, pharmacokinetics and bioavailability of RNAi molecules, further enhancing their therapeutic value. With continued development efforts, RNAi therapy is expected to play a major role in hereditary amyloidosis management and become the mainstream treatment in future.

Insights, By Route of Administration: Intravenous Route Dominates due to Rapid Achievement of Therapeutic Drug Levels

In terms of route of administration, intravenous administration segment is projected to account for 52.8% share of the market in 2024. Hereditary amyloidosis poses risk of life-threatening organ damage requiring immediate stabilization of disease condition. Intravenous administration allows rapid achievement of therapeutic drug concentrations in blood circulation and target sites compared to other routes.

The intravenous route effectively bypasses gastrointestinal and hepatic first-pass metabolism, ensuring maximal systemic drug bioavailability. It is particularly suitable for situations demanding prompt clinical response like in cases of cardiovascular or renal involvement by amyloid deposits. Well-established protocols for intravenous drug delivery in hospital setting facilitates seamless administration and monitoring of patients.

Absence of complex dose titration Process and precise dosage regulation also make intravenous route preferred choice over oral and subcutaneous alternatives. Overall, intravenous administration serves as the mainstay of acute and active stage treatment of hereditary amyloidosis.

Insights, By Distribution Channel: Focus on Inpatient Management Drive Hospital Pharmacy Demand

In terms of distribution channel, hospital pharmacies contribute the highest share of the market. Being a serious medical condition, majority of hereditary amyloidosis patients require comprehensive inpatient care, diagnostic workups and specialized therapy protocols primarily available in hospitals. Delivery of supportive measures and long-term drug management is crucial aspect of hereditary amyloidosis treatment necessitating regular clinical follow-ups.

Supervision of medication administration, dose titration, handling of adverse effects warrant dedicated pharmacy facilities and services provided most efficiently within hospital setups. Supervision of complex treatment regimens involving investigational drugs additionally rely on capabilities of hospital pharmacies.

Higher sales volumes through inpatient dispensing and ability to provide drugs on call further augment the revenue share of hospital pharmacies. Timely accessibility to required drugs assists uninterrupted treatment continuity even during medical emergencies or surgery. Hence, growing reliance on hospital-based care drives preferential channelizing of hereditary amyloidosis drug supplies through hospital pharmacies.

• Disease Prevalence: Hereditary ATTR amyloidosis affects an estimated 50,000 people worldwide, but actual numbers may be higher due to underdiagnosis.
• Economic Burden: The high cost of treatment, which can exceed $450,000 annually per patient for some therapies, poses significant challenges for healthcare systems and patients.
• Patient Demographics: The condition predominantly affects individuals aged 30 to 70, with certain mutations more common in specific ethnic groups, such as the V30M mutation in Portugal, Sweden, and Japan.
• France has the highest diagnosed cases of hATTR in the EU5, while Germany has the lowest.
• Japan reported 648 diagnosed cases in 2020, with a focus on familial amyloid cardiomyopathy and polyneuropathy.

The major players operating in the hereditary amyloidosis market include Alnylam Pharmaceuticals, Pfizer Inc., Ionis Pharmaceuticals, Akcea Therapeutics, and Prothena Corporation.

• In August 2023, BridgeBio Pharma announced the upcoming launch of Acoramidis for stabilizing transthyretin in Phase III clinical trials. The trial focused on Acoramidis, a transthyretin stabilizer, which is being tested for treating transthyretin amyloid cardiomyopathy (ATTR-CM). Key results from the study included an 81% survival rate for patients receiving Acoramidis, a relative reduction in cardiovascular mortality, and significant improvements in measures such as NT-proBNP levels and 6-minute walking distance.
• In August 2021, Alnylam Pharmaceuticals announced positive interim results from the Phase III HELIOS-A study for vutrisiran, a subcutaneous RNA interference (RNAi) therapeutic designed to treat hereditary transthyretin-mediated (hATTR) amyloidosis. The study showed promising outcomes, indicating that vutrisiran could be a beneficial treatment for patients with hATTR amyloidosis.
• In October 2020, Ionis Pharmaceuticals completed the full acquisition of Akcea Therapeutics, consolidating its pipeline of antisense therapies, including inotersen (Tegsedi). This merger aims to streamline operations, accelerate R&D efforts, and strengthen their position in the hereditary amyloidosis market. This acquisition consolidated Akcea’s antisense therapies pipeline, including inotersen (Tegsedi), aimed at treating hereditary amyloidosis.
• In May 2019, Pfizer Inc. received FDA approval for Vyndamax (tafamidis). Vyndamax, along with Vyndaqel (another formulation of tafamidis), is an oral transthyretin (TTR) stabilizer approved for the treatment of cardiomyopathy caused by transthyretin-mediated amyloidosis (ATTR-CM). This approval indeed expanded Pfizer's presence in the market and provided a critical treatment option for patients, with studies showing improved survival rates and reduced hospitalizations for heart failure.

• By Drug Type
  • RNA Interference (RNAi) Therapeutics
  • Antisense Oligonucleotides
  • Transthyretin (TTR) Stabilizers
• By Route of Administration
  • Intravenous Administration
  • Subcutaneous Administration
  • Oral Administration
• By Distribution Channel
  • Hospital Pharmacies
  • Retail Pharmacies
  • Online Pharmacies