Refsum Disease Market

Market Overview:

The 7 major refsum disease markets reached a value of USD 1,030.4 Million in 2024. Looking forward, IMARC Group expects the 7MM to reach USD 1,479.8 Million by 2035, exhibiting a growth rate (CAGR) of 3.35% during 2025-2035.

The refsum disease market has been comprehensively analyzed in IMARC's new report titled "Refsum Disease Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2025-2035". Refsum disease is an uncommon, inherited metabolic disorder resulting from the accumulation of phytanic acid because of defective alpha-oxidation. It is caused by mutations in the PHYH or PEX7 genes, which result in progressive neurological and systemic manifestations. It most notably involves vision, hearing, and motor functions, with important manifestations being retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, anosmia, and ichthyosis. Symptoms typically begin in late childhood or early adulthood, increasingly aggravating if left undiagnosed. Diagnosis includes biochemical analyses for the determination of plasma phytanic acid concentrations, genetic studies to verify mutations, and clinical assessments aimed at detecting neurological and ophthalmic impairments. Early identification is imperative to slow disease advancement and avoid irreversible complications. Even as a severe low-phytanic acid diet continues as the mainstay of treatment, advances in research regarding enzyme replacement therapy, pharmacologic chaperones, and gene-editing methods are adding new therapeutic dimensions. Advances in newborn screening and genetic screening also are fueling early intervention and enhanced patient benefits.

Rise in the incidence of Refsum disease and improved diagnosis and treatment are major factors influencing market growth. The build-up of phytanic acid, resulting from genetic mutations of PHYH or PEX7, causes significant neurological and systemic impairment, warranting early intervention. Increased awareness and early genetic screening programs are facilitating disease detection, enabling prompt dietary and therapeutic intervention. In addition, continued research on enzyme replacement therapies, pharmacologic chaperones, and gene-editing technologies is broadening treatment beyond dietary restriction. Increased use of plasma exchange (plasmapheresis) as a temporary treatment for acute symptom management, especially in the case of severe neuropathy, is also driving market growth. In addition, creation of specialized diet formulations that restrict phytanic acid consumption without compromising nutrition is better meeting patient needs. Partnerships between research organizations and biotech companies to develop new treatments, such as small-molecule therapeutics for phytanic acid metabolism, are driving innovation. With ongoing progress in personalized medicine and rising research investments, the Refsum disease market is expected to grow steadily.

IMARC Group's new report provides an exhaustive analysis of the refsum disease market in the United States, EU4 (Germany, Spain, Italy, and France), United Kingdom, and Japan. This includes treatment practices, in-market, and pipeline drugs, share of individual therapies, market performance across the seven major markets, market performance of key companies and their drugs, etc. The report also provides the current and future patient pool across the seven major markets. According to the report, Europe has the largest patient pool for refsum disease and also represents the largest market for its treatment. Furthermore, the current treatment practice/algorithm, market drivers, challenges, opportunities, reimbursement scenario, unmet medical needs, etc., have also been provided in the report. This report is a must-read for manufacturers, investors, business strategists, researchers, consultants, and all those who have any kind of stake or are planning to foray into the refsum disease market in any manner.

Recent Developments:

• In October 2021, a case study highlighted the management of infantile Refsum disease using a combination of docosahexaenoic acid (DHA) and cholic acid supplements along with a restricted diet. This approach was found to slow disease progression in a child who exhibited early symptoms, including retinitis pigmentosa-like eye conditions and hearing loss.

Key Highlights:

• Refsum disease is extremely rare, affecting approximately 1 in 1 million people worldwide, with higher prevalence reported in certain European populations.
• Over 90% of cases result from PHYH gene mutations, while others stem from PEX7 mutations, leading to impaired peroxisomal breakdown of phytanic acid.
• The disease causes vision loss (retinitis pigmentosa), anosmia, hearing impairment, balance issues, and peripheral neuropathy, significantly affecting mobility and sensory functions.
• It follows an autosomal recessive inheritance, requiring two copies of the mutated gene for disease manifestation, while carriers remain asymptomatic.
• Management includes strict dietary restrictions to limit phytanic acid intake, along with therapeutic interventions like plasmapheresis in severe cases to reduce toxic accumulation.

Drugs:

Cholbam (cholic acid) is used to manage bile acid synthesis disorders and certain peroxisomal disorders, including Refsum disease, in patients with liver-related symptoms. It aids bile acid production, supports liver function, and enhances fat absorption, addressing metabolic imbalances associated with these conditions.

Time Period of the Study

• Base Year: 2024
• Historical Period: 2019-2024
• Market Forecast: 2025-2035

Countries Covered

• United States
• Germany
• France
• United Kingdom
• Italy
• Spain
• Japan

Analysis Covered Across Each Country

• Historical, current, and future epidemiology scenario
• Historical, current, and future performance of the refsum disease market
• Historical, current, and future performance of various therapeutic categories in the market
• Sales of various drugs across the refsum disease market
• Reimbursement scenario in the market
• In-market and pipeline drugs

Competitive Landscape:

This report also provides a detailed analysis of the current refsum disease marketed drugs and late-stage pipeline drugs.

In-Market Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

Late-Stage Pipeline Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

*Kindly note that the drugs in the above table only represent a partial list of marketed/pipeline drugs, and the complete list has been provided in the report.

Key Questions Answered in this Report:

Market Insights

• How has the refsum disease market performed so far and how will it perform in the coming years?
• What are the markets shares of various therapeutic segments in 2024 and how are they expected to perform till 2035?
• What was the country-wise size of the refsum disease market across the seven major markets in 2024 and what will it look like in 2035?
• What is the growth rate of the refsum disease market across the seven major markets and what will be the expected growth over the next ten years?
• What are the key unmet needs in the market?

Epidemiology Insights

• What is the number of prevalent cases (​2019-2035​) of refsum disease across the seven major markets?
• What is the number of prevalent cases (​2019-2035) of refsum disease by age across the seven major markets?
• What is the number of prevalent cases (​2019-2035​) of refsum disease by gender across the seven major markets?
• How many patients are diagnosed (​2019-2035​) with refsum disease across the seven major markets?
• What is the size of the refsum disease patient pool (2019-2024) across the seven major markets?
• What would be the forecasted patient pool (2025-2035) across the seven major markets?
• What are the key factors driving the epidemiological trend of refsum disease?
• What will be the growth rate of patients across the seven major markets?

Refsum Disease: Current Treatment Scenario, Marketed Drugs and Emerging Therapies

• What are the current marketed drugs and what are their market performance?
• What are the key pipeline drugs and how are they expected to perform in the coming years?
• How safe are the current marketed drugs and what are their efficacies?
• How safe are the late-stage pipeline drugs and what are their efficacies?
• What are the current treatment guidelines for refsum disease drugs across the seven major markets?
• Who are the key companies in the market and what are their market shares?
• What are the key mergers and acquisitions, licensing activities, collaborations, etc. related to the refsum disease market?
• What are the key regulatory events related to the refsum disease market?
• What is the structure of clinical trial landscape by status related to the refsum disease market?
• What is the structure of clinical trial landscape by phase related to the refsum disease market?
• What is the structure of clinical trial landscape by route of administration related to the refsum disease market?