Bardet-Biedl Syndrome - Market Insight, Epidemiology, and Market Forecast - 2036

Key Highlights

• Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy. The disease mapped to at least twenty different genes (BBS1-BBS20), follow oligogenic inheritance pattern.
• Bardet-Biedl syndrome (BBS) is also known by several other names, including: Laurence-Moon-Biedl-Bardet syndrome, Sensenbrenner syndrome, Jeune syndrome.
• Adult Bardet-Biedl syndrome patients often show clinical overlapping with Senior-Løken and Alström Syndromes.
• In 2022, the FDA granted approval for IMCIVREE (setmelanotide) to treat obesity and manage hunger in both adult and pediatric patients aged 6 and above diagnosed with Bardet-Biedl Syndrome (BBS) or Alström syndrome.
• IMCIVREE stands out as the first drug to gain approval for the treatment of Bardet-Biedl Syndrome (BBS) and currently there are no emerging drugs available.
• The market is anticipated to witness a substantial positive shift owing to better uptake of existing drugs and raised awareness.
• The United States accounts for the largest market size of Bardet-Biedl syndrome (BBS), in comparison to EU4 (Germany, Spain, Italy, France), the United Kingdom, and Japan.

The “Bardet-Biedl syndrome (BBS) - Market Insights, Epidemiology and Market Forecast - 2036” report delivers an in-depth understanding of Bardet-Biedl syndrome (BBS), historical and forecasted epidemiology as well as the Bardet-Biedl syndrome (BBS) market trends in the United States, EU4 (Germany, Spain, Italy, and France) and the United Kingdom, and Japan.

Bardet-Biedl syndrome (BBS) market report provides real-world prescription pattern analysis, emerging drugs, market share of individual therapies, and historical and forecasted 7MM Bardet-Biedl syndrome (BBS) market size from 2022 to 2036. The report also covers current Bardet-Biedl syndrome (BBS) treatment practices/algorithms and unmet medical needs to curate the best opportunities and assess the market’s underlying potential.

Geography Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Bardet-Biedl syndrome (BBS) Understanding and Treatment Algorithm

Bardet-Biedl syndrome (BBS) Overview, Country-Specific Treatment Guidelines and Diagnosis

Bardet-Biedl syndrome (BBS) is an uncommon inherited condition that affects many parts of the body and presents with a wide range of symptoms. People with BBS commonly experience gradual vision deterioration that can progress to legal blindness, early-onset obesity with related issues such as diabetes and hypertension, the presence of extra fingers or toes, learning difficulties or intellectual disability, and reproductive system abnormalities - such as underdeveloped sex organs in males or urinary tract defects in females. Kidney involvement is frequent and can be severe. Additional symptoms may include speech delays, poor motor coordination, diabetes insipidus, and heart or liver complications. BBS is usually passed down in an autosomal recessive manner.

Diagnosis relies on evaluating clinical features together with genetic testing results. Clinically, BBS can be diagnosed when a patient shows at least four primary features, or three primary features plus two secondary features. Primary features include vision loss, obesity, polydactyly, and cognitive or learning impairments. Secondary features include genital anomalies and kidney abnormalities.

Genetic testing plays a crucial role in confirming the diagnosis. Known disease-causing mutations can be identified in roughly 80% of individuals with a clinical diagnosis of BBS, typically through a multigene panel test or whole-exome sequencing.

Bardet-Biedl syndrome (BBS) Treatment

For people living with Bardet-Biedl Syndrome (BBS), coordinated care from multiple specialists is essential to manage the condition’s diverse symptoms. Beginning treatment early helps individuals achieve the best possible outcomes. During puberty, counseling and, when appropriate, hormone therapy supervised by an endocrinologist may be required. Surgical interventions can address certain physical concerns, including extra fingers or toes, urinary or reproductive tract problems, and congenital heart issues. Anesthesia must be approached cautiously because airway differences can pose added risks. Managing obesity is a major component of care and may involve nutritional guidance, physical activity, and, in some cases, bariatric surgery. Vision challenges call for continuous follow-up with eye specialists, including routine exams and correction of refractive errors. Because vision loss can affect learning, working closely with schools to arrange appropriate support services may be beneficial.

Bardet-Biedl syndrome (BBS) Epidemiology

The Bardet-Biedl syndrome (BBS) epidemiology chapter in the report provides historical as well as forecasted epidemiology in the 7MM covering the United States, EU4 countries (Germany, France, Italy, and Spain), the United Kingdom, and Japan from 2026 to 2036. The Bardet-Biedl syndrome (BBS) epidemiology is segmented with detailed insights into diagnosed incidence cases, mutation-specific cases, and clinical manifestation-specific cases of Bardet-Biedl syndrome (BBS).

• The two main genes involved in BBS are BBS1 and BBS10, which are present in more than 20% of the cases.
• Bardet-Biedl syndrome (BBS) affects males and females in equal numbers.
• Retinal dystrophy is the most penetrant feature, affecting up to 100% of individuals followed by obesity, in 72-92% of cases.

Bardet-Biedl syndrome (BBS) Drug Chapter

The drug chapter segment of the Bardet-Biedl syndrome (BBS) report encloses a detailed analysis of Bardet-Biedl syndrome (BBS) marketed drugs and late-stage (Phase III and Phase II) pipeline drugs. It also deep dives into the Bardet-Biedl syndrome (BBS) pivotal clinical trial details, recent and expected market approvals, patent details, the latest news, and recent deals and collaborations.

Marketed Drugs

IMCIVREE: Rhythm Pharmaceuticals

IMCIVREE (setmelanotide) is a melanocortin-4 (MC4) receptor agonist prescribed for long-term weight management in adults and in children aged 6 and older who have monogenic or syndromic obesity resulting from deficiencies in POMC, PCSK1, or LEPR. These diagnoses must be confirmed by an FDA-authorized genetic test showing pathogenic, likely pathogenic, or uncertain-significance variants in one of the relevant genes. The medication is also approved for patients with Bardet-Biedl syndrome (BBS).

Setmelanotide primarily targets the MC4 receptor and shows substantially reduced activity - about 20-fold lower - at the MC3 and MC1 receptors. MC4 receptors within the brain help regulate hunger, satiety, and energy use. Nonclinical studies suggest that setmelanotide can restore signaling through the MC4 pathway, thereby lowering food intake and encouraging weight reduction by both decreasing caloric consumption and increasing energy expenditure in individuals whose obesity stems from POMC, PCSK1, or LEPR deficiencies or from BBS-related impairment of MC4 activation. The MC1 receptor, found on melanocytes, controls melanin production; when activated, it increases skin pigmentation independent of UV exposure.

Emerging Drugs

AXV-101: Axovia Therapeutics

AXV-101 is an experimental gene therapy being developed by Axovia Therapeutics for the treatment of Bardet-Biedl syndrome (BBS), a rare genetic disorder characterized by progressive vision impairment and additional systemic symptoms. The therapy has been granted Orphan Drug Designation (ODD) as well as Rare Pediatric Disease Designation (RPDD) by the U.S. FDA. AXV-101 is currently in an early Phase I clinical stage, with active listings on ClinicalTrials.gov (NCT07269665) and the UK clinical trials registry (ISRCTN96250868).

• In January 2026, Axovia Therapeutics reported that it has received an additional USD 1.1 million grant from a Race Against Blindness. This contribution completes the remaining funding requirement and allows the company to move forward with initiating the AXIS (AXV-101) clinical trial in the coming months for children living with BBS type 1.
• In May 2025, Axovia Therapeutics presented new preclinical data for AXV-101, its investigational therapy for the treatment of blindness associated with BBS mutations, at the American Society of Gene & Cell Therapy (ASGCT) annual meeting.

Bardet-Biedl syndrome (BBS) Market Outlook

At present, there are no active trials investigating potential key emerging drugs in the patients with BBS. Symptomatic management is the mainstay approach followed by the physicians.

• The only approved drug is IMCIVREE and currently there are no emerging drugs.
• The unmet needs highlight the importance of continued research, education, and support for individuals with Bardet-Biedl syndrome and their caregivers.
• Bardet-Biedl syndrome is currently treated symptomatically focusing in particular on aggressive management of diabetes, hypertension, and metabolic syndrome to minimize the secondary impact that these conditions have on vulnerable organ systems already affected by BBS, in particular the eyes and kidneys.

KOL Views

To keep up with the real-world scenario in current and emerging market trends, we take opinions from Key Industry leaders working in the domain through primary research to fill the data gaps and validate our secondary research. Industry Experts were contacted for insights on the evolving treatment landscape, patient reliance on conventional therapies, patient therapy switching acceptability, and drug uptake along with challenges related to accessibility.

The analysts connected with 10+ KOLs to gather insights; however, interviews were conducted with 5+ KOLs in the 7MM. Their opinion helps understand and validate current and emerging treatment patterns of Bardet-Biedl syndrome (BBS). This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the unmet needs.

Qualitative Analysis

We perform Qualitative and market Intelligence analysis using various approaches, such as SWOT analysis and Conjoint Analysis. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of gaps in disease diagnosis, patient awareness, physician acceptability, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided.

Conjoint Analysis analyzes multiple approved and emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry. Scoring is given based on these parameters to analyze the effectiveness of therapy.

Further, the therapies’ safety is evaluated wherein the acceptability, tolerability, and adverse events are majorly observed, and it sets a clear understanding of the side effects posed by the drug in the trials. In addition, the scoring is also based on the probability of success, and the addressable patient pool for each therapy. According to these parameters, the final weightage score and the ranking of the emerging therapies are decided.

Market Access and Reimbursement

The report further provides detailed insights on the country-wise accessibility and reimbursement scenarios, cost-effectiveness scenario of currently used therapies, programs making accessibility easier and out-of-pocket costs more affordable, insights on patients insured under federal or state government prescription drug programs, etc.

Scope of the Report

• The report covers a segment of key events, an executive summary, descriptive overview of Bardet-Biedl syndrome (BBS), explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.
• Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, and disease progression along with country specific treatment guidelines.
• Additionally, an all-inclusive account of both the current and emerging therapies, along with the elaborative profiles of late-stage and prominent therapies, will have an impact on the current treatment landscape.
• A detailed review of the Bardet-Biedl syndrome (BBS) market, historical and forecasted market size, market share by therapies, detailed assumptions, and rationale behind our approach is included in the report, covering the 7MM drug outreach.
• The report provides an edge while developing business strategies, by understanding trends, through SWOT analysis and expert insights/KOL views, patient journey, and treatment preferences that help in shaping and driving the 7MM Bardet-Biedl syndrome (BBS) market.

Bardet-Biedl syndrome (BBS) Report Insights

• Patient Population
• Therapeutic Approaches
• Bardet-Biedl syndrome (BBS) Pipeline Analysis
• Bardet-Biedl syndrome (BBS) Market Size and Trends
• Existing and future Market Opportunity

Bardet-Biedl syndrome (BBS) Report Key Strengths

• Eleven Years Forecast
• 7MM Coverage
• Bardet-Biedl syndrome (BBS) Epidemiology Segmentation
• Inclusion of Country specific treatment guidelines
• KOL’s feedback on approved and emerging therapies
• Key Cross Competition
• Drugs Uptake and Key Market Forecast Assumptions

Bardet-Biedl syndrome (BBS) Report Assessment

• Current Treatment Practices
• Unmet Needs
• Market Attractiveness
• Qualitative Analysis (SWOT)

FAQs

• What is the growth rate of the 7MM Bardet-Biedl syndrome (BBS) treatment market?
• What was the Bardet-Biedl syndrome (BBS) total market size, the market size by therapies, market share (%) distribution in 2022, and what would it look like in 2036? What are the contributing factors/key catalysts for this growth?
• Is there any unexplored patient setting that can open the window for growth in the future?
• What are the pricing variations among different geographies for approved and off-label therapies?
• How would the market drivers, barriers, and future opportunities affect the market dynamics and subsequent analysis of the associated trends? Although multiple expert guidelines recommend testing for targetable mutations before therapy initiation, why do barriers to testing remain high?
• What are the current and emerging options for the treatment of Bardet-Biedl syndrome (BBS)?
• How many companies are developing therapies for the treatment of Bardet-Biedl syndrome (BBS)?
• What are the recent novel therapies, targets, mechanisms of action, and technologies developed to overcome the limitations of existing therapies?
• Patient/physician acceptability in terms of preferred treatment options as per real-world scenarios?
• What are the country-specific accessibility issues of expensive, recently approved therapies?

Reasons to buy

• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the Bardet-Biedl syndrome (BBS) Market.
• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years
• Understand the existing market opportunities in varying geographies and the growth potential over the coming years.
• Distribution of historical and current patient share based on real-world prescription data along with reported sales of approved products in the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.
• Identifying strong upcoming players in the market will help devise strategies to help get ahead of competitors.
• Detailed analysis and ranking of class-wise potential current and emerging therapies under the conjoint analysis section to provide visibility around leading classes.
• Highlights of access and reimbursement policies of approved therapies, barriers to accessibility of expensive off-label therapies, and patient assistance programs.
• To understand Key Opinion Leaders’ perspectives around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet needs of the existing market so that the upcoming players can strengthen their development and launch strategy.

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