Kabuki Syndrome - Market Insight, Epidemiology, and Market Forecast - 2034

Key Highlights:

• There are no Kabuki syndrome specific treatments that address the root causes of the syndrome. Current therapies for Kabuki syndrome focus on addressing symptoms as they present in an individual.
• In June 2025, the Kabuki Syndrome Foundation (KSF) has partnered with Unravel Biosciences with an investment of USD 66,500, to identify repurposed drugs that could help treat individuals with a mutation on the KDM6A gene, which can cause Kabuki syndrome type 2. This is the first-ever Kabuki syndrome type 2 drug screen funded by the KSF.
• In May 2025, InnoSer announced a partnership with the KSF to advance preclinical testing of vafidemstat using Kmt2d^+/BGeo mouse models to validate therapeutic potential in Kabuki syndrome.
• In May 2025, the KSF successfully hosted a global clinical management guidelines consensus meeting for Kabuki syndrome. These guidelines will provide standardized, evidence-based recommendations to improve the diagnosis, treatment, and ongoing care of individuals living with this rare genetic disorder. The final management guidelines are expected to be available in 2026.
• The emerging pipeline for Kabuki syndrome remains highly limited, with only one therapy-Vafidemsat, currently in the Phase Ib/II-being developed by Oryzon Genomics.

DelveInsight's "Kabuki Syndrome - Market Insight, Epidemiology, and Market Forecast - 2034" report delivers an in-depth understanding of Kabuki syndrome, historical and forecasted epidemiology as well as the Kabuki syndrome market trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

The Kabuki syndrome market report provides current treatment practices, emerging drugs, Kabuki syndrome share of individual therapies, and current and forecasted Kabuki syndrome market size from 2020 to 2034, segmented by seven major markets. The report also covers current Kabuki syndrome treatment practices/algorithms and unmet medical needs to curate the best of the opportunities and assess the underlying potential of the market.

Geography Covered:

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

Study Period: 2020-2034

Kabuki Syndrome Disease Understanding and Treatment Algorithm

Kabuki Syndrome Overview

Kabuki syndrome is a rare inherited genetic syndrome caused by mutations in either the KMT2D or KDM6A gene. These mutations affect methylation, leading to abnormal growth and development. Kabuki syndrome is often recognized by the characteristic facial features that are thought to resemble traditional Japanese Kabuki theatre actors. The condition has a heterogeneous phenotype and affects multiple body systems, leading to craniofacial abnormalities, hearing loss, vision problems, congenital heart defects, feeding difficulties, immune dysfunction, poor growth, skeletal and dermatoglyphic abnormalities, and difficulties with cognition and development.

Kabuki Syndrome Diagnosis

Kabuki syndrome is a challenging clinical diagnosis because many characteristics are absent in the initial neonatal period and may not become evident until later in life. Those with the KMT2D mutation are more likely to have clinical features characteristic of this syndrome in infancy compared to those with a KDM6A mutation. Multiple scoring systems have been developed to diagnose patients with Kabuki syndrome who have not had genetic testing or who have had genetic testing with no identifiable etiology. Genetic testing can be approached in 2 ways. When phenotypic findings suggest a diagnosis of Kabuki syndrome, genetic testing can include either single-gene testing or a multigene panel. Single gene testing with sequence analysis will detect missense, nonsense, splice site variants, and intragenic insertions/deletions. Some specialists recommended that sequence analysis of KMT2D be performed first.

Kabuki Syndrome Treatment

Management requires a lifelong multidisciplinary approach. Regular follow-up by a clinical geneticist, pediatrician, psychologist/psychiatrist, speech therapist, physiotherapist and ophthalmologist will have a major impact. Feeding difficulties may require tube feeding (nasogastric or gastrostomy). Developmental assessments are required in order to tailor medical services to each individual's needs. Other specialists can be required, such as a cardiologist, gastroenterologist, nephrologist, immunologist, ENT (ear, nose and throat) or stomatologist. Special attention is need for fine graphomotor and visuals difficulties.

Kabuki Syndrome Epidemiology

The Kabuki syndrome epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by the total prevalent cases of Kabuki syndrome, total diagnosed prevalent cases of Kabuki syndrome, gender-specific cases of Kabuki syndrome, age-specific cases of Kabuki syndrome, and genetic subtypes-specific cases of Kabuki syndrome in the 7MM market covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2020 to 2034.

• Kabuki syndrome has an estimated frequency of about 1 in 32,000 to 1 in 86,000 individuals.
• Transmission of KDM6A-related Kabuki syndrome is X-linked with males slightly more affected than females.
• The mutations in KMT2D and KDM6A have been found in 56-76% and 5-8% of patients clinically diagnosed with Kabuki syndrome, respectively. In approximately 20% of patients, there is no mutation in either KMT2D or KDM6A.

Kabuki Syndrome Drug Chapters

Vafidemsat: Oryzon Genomics

Vafidemsat is an LSD1 inhibitor developed by Oryzon Genomics. Its efficacy in people with Kabuki syndrome has not yet been determined, but there is data that indicates an LSD1 inhibitor could be a promising treatment candidate for Kabuki syndrome.

• The Kabuki Syndrome Foundation is funding USD 300,000 to test Oryzon's vafidemstat in a Kabuki syndrome mouse model. This mouse study aims to validate the therapeutic potential of vafidemstat and its associated pathway (LSD1), shedding light on a future decision to invest USD 5 million in the first industry-led clinical trial for people with Kabuki syndrome. Results are anticipated later in 2025.
• In their Q1 2025 presentation, the company mentioned that they continue to evaluate the feasibility of a new precision medicine trial in Kabuki Syndrome. The company will decide on a possible submission of an Investigational New Drug (IND) for HOPE trial to the Food and Drug Administration (FDA) in 2025.

Drug Class Insight

With sparse pipeline with only one product in Phase I/II of development, the drug classes currently in for the treatment of Kabuki syndrome encompass LSD1 inhibitor.

Lysine-specific demethylase 1 (LSD1, also known as KDM1A) is a FAD-dependent epigenetic enzyme that removes mono- and di-methyl groups from histone H3 lysine residues (H3K4me1/2 and H3K9me1/2), regulating chromatin accessibility and gene expression. In Kabuki syndrome, disrupted histone methylation is a central pathogenic mechanism, leading to widespread alterations in gene expression essential for normal development and cognitive function. LSD1 plays a role in repressing gene transcription by demethylating active histone marks, and its overactivity can contribute to the epigenetic imbalance seen in Kabuki syndrome. Inhibiting LSD1 can help restore proper histone methylation patterns and gene expression profiles, potentially improving neurodevelopmental outcomes. Preclinical studies have shown that LSD1 inhibition may reverse cognitive and transcriptional deficits in mouse models of Kabuki syndrome by reactivating genes critical for neuronal function and plasticity. Unlike its role in oncology, where LSD1 inhibitors trigger apoptosis or differentiation, in Kabuki syndrome the goal is to normalize gene expression and enhance synaptic and cognitive function. Investigational compounds like ORY-2001 (vafidemstat) are being explored for their ability to modulate epigenetic regulation safely in neurodevelopmental and neuropsychiatric disorders, offering hope for targeted treatment strategies in Kabuki syndrome.

Kabuki Syndrome Market Outlook

The treatment landscape for Kabuki syndrome remains primarily supportive and symptom-based, with no disease-modifying therapies currently approved. This rare neurodevelopmental disorder, typically caused by mutations in the KMT2D or KDM6A genes, results in widespread epigenetic dysregulation that affects growth, cognition, and multiple organ systems. Current management focuses on addressing individual manifestations-such as developmental delays, congenital heart defects, immune dysfunction, and skeletal abnormalities through multidisciplinary care involving speech therapy, physiotherapy, surgical interventions, and educational support. However, these approaches do not address the underlying molecular cause of the disease.

Recent advances in understanding the epigenetic mechanisms driving Kabuki syndrome have sparked interest in targeted therapies aimed at restoring normal gene expression. One promising approach involves inhibition of LSD1 (KDM1A). Preclinical studies have demonstrated that LSD1 inhibitors can rescue cognitive deficits and normalize gene expression in mouse models of Kabuki syndrome. Compounds like vafidemstat (ORY-2001) are being explored for their potential to safely modulate epigenetic regulation in neurodevelopmental disorders. While no therapies have yet received regulatory approval specifically for Kabuki syndrome, early-stage drug development is gaining momentum. As research progresses, investments in targeted epigenetic therapies, such as LSD1 inhibitors, may offer hope for modifying the course of this complex disorder.

Kabuki Syndrome Drugs Uptake

This section focuses on the uptake rate of potential drugs expected to be launched in the market during forecast period 2025-2034.

Kabuki Syndrome Pipeline Development Activities

The report provides insights into different therapeutic candidates in early phase. It also analyzes key players involved in developing targeted therapeutics.

Pipeline Development Activities

The report covers detailed information on collaborations, acquisitions and mergers, licensing, and patent details for Kabuki syndrome emerging therapies.

KOL- Views

To keep up with current market trends, we take KOLs and SMEs' opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Some of the leaders like MD, Professor and Vice Chair of the Department of Rheumatology and Director, PhD, and others. Their opinion helps to understand and validate current and emerging therapies and treatment patterns or Kabuki syndrome market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the unmet needs.

Delveinsight's analysts connected with 20+ KOLs to gather insights; however, interviews were conducted with 5+ KOLs in the 7MM. Centers such as the Washington University School of Medicine, University Medical Center Hamburg-Eppendorf, and University Graduate School of Medicine etc. were contacted. Their opinion helps understand and validate Kabuki syndrome epidemiology and market trends.

Qualitative Analysis

We perform qualitative and market intelligence analysis using various approaches, such as SWOT and conjoint analysis. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of disease diagnosis, patient awareness, patient burden, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided. These pointers are based on the Analyst's discretion and assessment of the patient burden, cost analysis, and existing and evolving treatment landscape.

The analyst analyzes multiple emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry.

In efficacy, the trial's primary and secondary outcome measures are evaluated.

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.

Market Access and Reimbursement

Reimbursement may be referred to as the negotiation of a price between a manufacturer and a payer that allows the manufacturer access to the market. It is provided to reduce the high costs and make the essential drugs affordable. Health technology assessment (HTA) plays an important role in reimbursement decision-making and recommending the use of a drug. These recommendations vary widely throughout the seven major markets, even for the same drug. In the US healthcare system, both Public and Private health insurance coverage are included. Also, Medicare and Medicaid are the largest government-funded programs in the US. The major healthcare programs, including Medicare, Medicaid, Health Insurance Program (CHIP), and the state and federal health insurance marketplaces, are overseen by the Centers for Medicare & Medicaid Services (CMS). Other than these, Pharmacy Benefit Managers (PBMs) and third-party organizations that provide services and educational programs to aid patients are also present.

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 descriptive overview of Kabuki syndrome, explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.
• Comprehensive insight has been provided into Kabuki syndrome epidemiology and treatment.
• Additionally, an all-inclusive account of both the current and emerging therapies for Kabuki syndrome is provided, along with the assessment of new therapies, which will have an impact on the current treatment landscape.
• A detailed review of the Kabuki syndrome market; historical and forecasted is included in the report, covering the 7MM drug outreach.
• The report provides an edge while developing business strategies, by understanding trends shaping and driving the 7MM Kabuki syndrome market.

Kabuki Syndrome Report Insights

Kabuki Syndrome Report Insights

• Patient Population
• Therapeutic Approaches
• Kabuki syndrome Pipeline Analysis
• Kabuki syndrome Market Size and Trends
• Market Opportunities
• Impact of Upcoming Therapies

Kabuki Syndrome Report Key Strengths

• Ten Years Forecast
• 7MM Coverage
• Kabuki syndrome Epidemiology Segmentation
• Key Cross Competition
• Highly Analyzed Market
• Drugs Uptake

Kabuki Syndrome Report Assessment

• Current Treatment Practices
• Unmet Needs
• Pipeline Product Profiles
• Market Attractiveness
• Qualitative Analysis (SWOT and Conjoint Analysis)

FAQs:

• What was the Kabuki syndrome market share (%) distribution in 2020 and what it would look like in 2034?
• What would be the Kabuki syndrome total market size as well as market size by therapies across the 7MM during the study period (2020-2034)?
• What are the key findings about the market across the 7MM and which country will have the largest Kabuki syndrome market size during the study period (2020-2034)?
• At what CAGR, the Kabuki syndrome market is expected to grow at the 7MM level during the study period (2020-2034)?
• What would be the Kabuki syndrome market growth till 2034 and what will be the resultant market size in the year 2034?
• What are the disease risks, burdens, and unmet needs of Kabuki syndrome?
• What is the historical Kabuki syndrome patient pool in the United States, EU4 (Germany, France, Italy, and Spain), and the UK, and Japan?
• What would be the forecasted patient pool of Kabuki syndrome at the 7MM level?
• What will be the growth opportunities across the 7MM concerning the patient population of Kabuki syndrome?
• Amon the 7MM which country would have the most prevalent cases of Kabuki syndrome during the study period (2020-2034)?
• At what CAGR the population is expected to grow across the 7MM during the study period (2020-2034)?
• How many companies are developing therapies for the treatment of Kabuki syndrome?
• How many emerging therapies are in the mid-stage and late stage of development for the treatment of Kabuki syndrome?
• What are the key collaborations (industry-industry, industry-academia), Mergers and acquisitions, and licensing activities related to Kabuki syndrome therapies?
• What are the recent novel therapies, targets, mechanisms of action, and technologies developed to overcome the limitations of existing therapies?
• What are the clinical studies going on for Kabuki syndrome and their status?
• What are the key designations that have been granted for the emerging therapies for Kabuki syndrome?
• What are the 7MM historical and forecasted market of Kabuki syndrome?

Reasons to buy:

• The report will help in developing business strategies by understanding trends shaping and driving the Kabuki syndrome market.
• To understand the future market competition in the Kabuki syndrome market and insightful review of the SWOT analysis of Kabuki syndrome.
• Organize sales and marketing efforts by identifying the best opportunities for Kabuki syndrome in the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.
• Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors.
• Organize sales and marketing efforts by identifying the best opportunities for the Kabuki syndrome market.
• To understand the future market competition in the Kabuki syndrome.