The Global Alport Syndrome Market is estimated to be valued at USD 25.3 Bn in 2024 and is expected to reach USD 43.3 Bn by 2031, growing at a compound annual growth rate (CAGR) of 6.7% from 2024 to 2031. Alport syndrome is a rare genetic disorder that causes scarring of the kidneys and affects the eyes and ears. Rising government funding for rare disease research and growing awareness about Alport syndrome diagnosis and treatment options are fueling market growth.

The market is witnessing positive trends with the development and approval of novel drug candidates to treat Alport syndrome. Key players are focused on developing therapies that can slow kidney disease progression and prevent hearing and vision loss in patients. Furthermore, improving reimbursement landscape for orphan drugs in major markets is encouraging pharmaceutical companies to advance their drug pipelines for Alport syndrome, which will drive market revenues over the forecast period.

Market Driver - Increasing prevalence of Alport Syndrome, especially X-linked subtype.

It is estimated that the overall prevalence of Alport syndrome is increasing globally, especially for the X-linked subtype which accounts for around 85% of total cases. As per genetics and inheritance pattern, the X-linked form of the disease is more common in males as the defective gene is located on the X chromosome. Females have a lower risk of getting the disease as they have a second normal X chromosome that provides a backup copy of the gene. However, recent research has found that prevalence rates may be higher than previously reported and epidemiological data also suggests increasing diagnosis rates in the last decade.

The rising availability of advanced genetic testing options has played a key role here. The traditional diagnostic methods like renal biopsy and electron microscopy examination have limitations. Genetic testing allows for definitive diagnosis even in early or mild cases. It also helps in family screening and counseling. With greater awareness, screening of families with a history of the disease and carrier testing of relatives has become more common. This is leading to identification of more prevalence cases including asymptomatic or mild forms that may have remained undetected earlier due to non-specific symptoms or limitations of conventional tests. Advances in next-generation sequencing technologies have further accelerated the genetic testing process, making it more affordable and accessible globally.

Market Driver- Growing Pipeline of Emerging Therapies Targeting Genetic Mutations in Alport Syndrome.

There is significant research activity currently going on to develop novel therapeutic options targeting the underlying genetic cause of Alport syndrome. A majority of the drug candidates in development aim to address the specific genetic mutations through gene silencing, gene editing or gene therapy approaches. Several biopharma companies have identified gene targets and are exploring antisense oligonucleotides, siRNA, CRISPR and other gene modifying technologies. A few therapies have also reached clinical trials and initial safety and efficacy results have been promising.

If successfully developed, these genetic medicines can potentially slow disease progression, improve renal function and delay need for dialysis or transplant in patients. Greater understanding of genotype-phenotype relationships has also aided development of mutation-specific therapies. Researchers are optimistic that targeting preserved renal pathways through gene correction holds potential for long term treatment of this currently untreatable condition. Emerging clinical evidence and accumulating preclinical data should help accelerate the regulatory review and approval timelines for these novel treatment modalities. Partnerships between biotechs, patient advocacy groups and academic institutes are further supporting research in this neglected disease space through funding and infrastructure support.

Market Challenge - High Unmet Medical Needs Due to Lack of Curative Therapies.

There are currently no approved therapies that can cure Alport syndrome or slow its progression. Kidney transplantation is the only treatment option for end-stage kidney disease, however, there are challenges associated with finding matched donors and risks of organ rejection. Additionally, frequent dialysis is required post-transplant which poses further challenges. The disease progresses gradually but leads to end-stage kidney failure in around 50% of male patients by their mid-30s and later for female patients. Current management focuses on treatments for symptoms such as renin-angiotensin-aldosterone system inhibitors to lower blood pressure and delay kidney failure. However, these can only slow but not stop disease progression. Furthermore, patients living with the disease face risks of hearing loss and eye abnormalities. The significant unmet need for novel and disease-modifying treatments represents a major challenge in effectively managing this rare disease.

Market Opportunity- Advancements in Genetic Testing Improving Early Diagnosis.

Improvements in genetic testing technologies are helping enhance early diagnosis of Alport syndrome. Next-generation sequencing techniques are making it possible to quickly and accurately identify mutations in COL4A3/4/5 genes that are responsible for causing the condition. There is an increased ability to confirm a diagnosis, even in patients with few or no symptoms yet. Earlier diagnosis allows for timely management through early interventions aimed at reducing risks of end-stage renal disease and other complications. It also helps provide families with proper guidance on reproductive risks and screening options for other family members. As genetic testing becomes more widely used primary care, more patients are likely to receive a confirmed diagnosis at an earlier stage of the disease. This growing ability to detect Alport syndrome sooner presents opportunities for drug developers to target patients earlier in their treatment journey.

Alport Syndrome is a rare genetic disorder that affects the kidney, cochlea of the inner ear, and eyes. Treatment is focused on slowing kidney disease progression and managing symptoms.

Initial treatment focuses on managing blood pressure and protein levels through ACE inhibitors or ARBs such as Lisinopril or Losartan. Early-stage patients may also take fish oil supplements to reduce proteinuria.

As kidney function declines, patients transition to Stage 3 chronic kidney disease, requiring additional medications. Prescribers commonly add potassium binders like Kayexalate to control potassium levels. They may also prescribe phosphate binders such as Calcium Carbonate brands like Tums or Oscal to lower serum phosphorus in preparation for dialysis.

Patients approaching renal failure at Stage 4 receive erythropoiesis-stimulating agents like Epogen or Procrit to address anemia. Prescribers also consider vitamin D analogs such as Rocaltrol or Zemplar to stabilize minerals in advanced kidney disease.

Once Stage 5 renal failure is reached, long-term dialysis is needed. Most prescribers initiate hemodialysis using Cimino fistulas surgically placed in the forearm. Peritoneal dialysis using brands like Dianeal is an alternative but less common due to peritoneal complications in Alport patients. Prescribers closely monitor dialysis patients on anticoagulants like Warfarin. Kidney transplantation may be considered for eligible patients. The child's gender, age of onset, and rate of progression impact treatability and long-term outcomes. Familial mutations also affect prescribers' recommendation of aggressive therapies.

Alport syndrome has progressive stages depending on loss of kidney function. Initial treatment focuses on slowing progression by targeting issues like high blood pressure and proteinuria. Later stages involve dialysis and transplantation.

In early stages, ACE inhibitors/ARBs are first line to lower proteinuria and protect kidney function. Drugs like Lisinopril, Losartan and Irbesartan are commonly used due to their effectiveness and availability as low-cost generics. For patients not achieving targets, combination therapy with an ACE inhibitor plus an ARB may provide additional protection.

As glomerular filtration declines, randomized trials show inhibitors reduce loss of function by 30-40% versus other antihypertensives. Their dual action lowering both blood pressure and proteinuria make them ideal for delaying disease progression at this stage.

For end-stage kidney disease, dialysis is required 2-3 times weekly to replicate kidney filtration until transplantation. Peritoneal dialysis performed at home offers mobility benefits over hemodialysis but has higher infection risks. Transplantation is the treatment of choice for suitable candidates due to drastically improved quality of life and longevity versus long-term dialysis. Careful donor selection helps minimize future rejection risks.

In summary, ACE inhibitors/ARBs are the first-line treatment throughout Alport syndrome due to compelling evidence they slow progression by targeted mechanisms. Dialysis and transplantation become necessary later as options to replace lost renal function.

Focus on expanding treatment options: Leading pharma companies are investing heavily in R&D to develop new and improved treatment options for Alport syndrome. This allows them to address unmet needs and expand their market share. For example, Regulus Therapeutics developed RG-012, an oligonucleotide therapy targeting the underlying cause of Alport syndrome. This is the first therapy in clinical trials aimed at halting the progression of the disease.

Strategic partnerships and collaborations: Players are partnering with top research institutions and biotechs to accelerate drug development and commercialization. In 2019, Reata Pharmaceuticals collaborated with the National Institutes of Health to launch a pivotal trial of bardoxolone methyl for Alport syndrome and autosomal dominant polycystic kidney disease. Such partnerships help companies access cutting-edge research and expand clinical pipelines.

Acquisitions of Niche Players: Large pharma companies are acquiring smaller biotechs working on Alport syndrome to gain access to their candidate pipeline and expertise. For instance, in 2021 Takeda acquired Lynke Therapeutics to obtain LYN-006, an antibody therapy in Phase 1 trials for Alport syndrome and other forms of chronic kidney disease. This strengthened Takeda's renal portfolio.

Focus on Orphan Drug Status: Many companies are leveraging the orphan drug designation pathway to fast-track the development and approval of therapies for this rare disease.

These strategic initiatives by leaders such as Reata, Regulus and Takeda have helped significantly expand therapeutic options for Alport syndrome patients over the past decade.

Insights, By Drug Class, Clinical Efficacy Drives Market Dominance of ACE inhibitors

By Drug Class, ACE inhibitors is expected to contribute the highest share 34.6% in 2024 owing to its established clinical efficacy in managing hypertension and delaying progression of kidney disease in Alport syndrome patients. ACE inhibitors are recommended as first-line therapy to control blood pressure, as uncontrolled hypertension can accelerate renal function decline. Long-term usage data has proven that ACE inhibitors effectively lower blood pressure and proteinuria levels in Alport syndrome patients. This clinical evidence provides doctors and patients greater confidence in opting for ACE inhibitors over other classes. Additionally, several generic versions are now available, making ACE inhibitors more affordable for long-term therapy compared to newly emerging drug classes. The extensive clinical experience and efficacy database have solidified ACE inhibitors as the standard of care in current treatment guidelines, firmly securing its leading position in the Alport syndrome drug market.

Insights, By Disease Type High Incidence Rate Drives XLAS as Dominant Disease Type.

By Disease Type, X-linked Alport Syndrome (XLAS) is expected to contribute the highest share 51.3% in 2024 owing to its high incidence rate. XLAS accounts for around 80% of all Alport syndrome cases. Being an X-linked genetic disorder, it occurs more frequently in males than females. Studies have reported the incidence rate of XLAS to be 1 in 5,000 among males. In comparison, the incidence rates of autosomal recessive and dominant variants are much lower, estimated to be 1 in 50,000 for ARAS and 1 in 100,000 for ADAS. The sheer volume of XLAS patients due to its relatively high incidence rate makes it the leading disease type segment in this patient population. Additionally, loss of renal function tends to occur earlier in life for XLAS patients compared to other variants. This places a bigger disease management burden for the XLAS segment.

Insights, By Patient Type, Higher Disease Severity Drives Adult Patient Segment Dominance.

By Patient Type, Adult Patients contribute the highest share of the market in 2024 owing to higher disease severity and burden of care needs in this group. While pediatric patients are also affected, symptomatic kidney disease typically manifests later in life, with end-stage renal disease usually occurring during the third to fifth decade of life. A majority of Alport syndrome patients in the adult age group already have varying degrees of chronic kidney disease at the time of diagnosis. They have a progressive loss of renal function over time and often require long-term treatment to delay transplant or dialysis. This makes the management of cardiovascular and kidney complications more intensive for adult patients compared to pediatric cases. Furthermore, employment responsibilities and financial obligations place adult patients under more pressure to actively manage their condition. Together, these factors drive greater utilization of therapeutics and healthcare services among adult Alport syndrome patients, making it the dominant segment in this market.

Alport Syndrome is a rare genetic disorder affecting kidneys, hearing, and eyes, primarily due to mutations in type IV collagen. Most patients are undiagnosed due to the disease's asymptomatic progression. The market is driven by the urgent need for new treatments as current therapies only delay disease progression without providing a cure. Emerging gene therapies like ELX-02 and other novel drugs such as Atrasentan hold promise in addressing this gap. The US accounts for the highest market share due to a larger patient pool and better access to advanced therapies. Future market growth is expected with advancements in genetic testing and the introduction of new treatments that could modify the disease course.

The major players operating in the Alport Syndrome Market include Eloxx Pharmaceuticals, Chinook Therapeutics, Travere Therapeutics, Reata Pharmaceuticals, Bayer, River 3 Renal Corp, Calliditas Therapeutics, Novartis, Evotec, Genzyme Corp, TMC Pharma Services Ltd and Shanghai Children's Hospital.

• September 2023: Eloxx Pharmaceuticals advanced its gene therapy ELX-02 to Phase II clinical development, aiming to target nonsense mutations in Alport Syndrome patients.
• July 2023: Chinook Therapeutics initiated a Phase II trial for Atrasentan, an ETA receptor antagonist, which aims to reduce proteinuria in Alport Syndrome and other kidney diseases.

• By Drug Class
  • ACE Inhibitors
  • ARBs
  • SGLT2 Inhibitors
  • Emerging Therapies
• By Disease Type
  • X-linked Alport Syndrome (XLAS): 51.3%
  • Autosomal Recessive Alport Syndrome (ARAS): 30.7%
  • Autosomal Dominant Alport Syndrome (ADAS): 18.0%
• By Patient Type
  • Adult Patients
  • Pediatric Patients