The MarketVue®: Homocystinuria market landscape report combines primary (KOL interviews) and secondary market research to empower strategic decision-making and provide a complete view of the market.
Every MarketVue® includes a disease overview, epidemiology (US and EU5), current treatment, unmet needs, pipeline and access and reimbursement chapter.
Medical geneticist, U.S.: 'I think everybody who isn’t pyridoxine responsive is unhappy because they’re not getting where they need to go.'
An analyst from the research firm, stated: 'Physicians hope that emerging ERTs will allow pyridoxine partial and non-responsive patients to liberalize their diet. Although current treatments can lower tHcy for pyridoxine partial and non-responsive patients, they require strict monitoring of dietary protein intake, which is nearly impossible for most patients to sustain.'
Every MarketVue® includes a disease overview, epidemiology (US and EU5), current treatment, unmet needs, pipeline and access and reimbursement chapter.
Topics covered in this report:
- Disease overview: Review the disease pathophysiology and potential druggable targets
- Epidemiology: Understand prevalence, diagnosed and drug-treated prevalence of the population and key market segments
- Current treatment: Understand the treatment decision tree and strengths and weaknesses of current on-label and off-label treatment
- Unmet needs: Identify opportunities to address treatment or disease management gaps
- Pipeline analysis: Compare current and emerging therapy clinical development strategy; their performance on efficacy, safety, and delivery metrics; and their potential to address unmet needs
- Value and access: Review the evidence needed to assess and communicate value to key stakeholders (e.g., providers, payers, regulators) and learn what competitors have done or are doing
Methodology:
Research for the MarketVue®: Homocystinuria report is supported by 8 qualitative interviews with key opinion leaders and secondary research.Geographies covered:
United States plus epidemiology for EU5 (France, Germany, Italy, Spain, United Kingdom).Key companies mentioned:
- Travere Therapeutics
- Aeglea BioTherapeutics
- Synlogic Therapeutics
- Codexis
Key drugs mentioned:
- Betaine (Cystadane)
- Folate
- Pegtibatinase / TVT-058
- Pegtarviliase / AGLE-177
- SYNB1353
- CDX-6512
- AAV1-CMV-hCBS
- Cystathionine
- Taurine
Key takeaways from the report:
Classic homocystinuria (HCU) is a rare, inherited metabolic disease resulting from cystathionine beta-synthase deficiency. When left untreated or poorly managed, HCU is associated with severe symptoms such as:- Developmental delays
- Stroke
- Bone weakness or deformities
- Lens dislocation
- Increased risk of blood clots
Medical geneticist, U.S.: 'I think everybody who isn’t pyridoxine responsive is unhappy because they’re not getting where they need to go.'
Medical geneticists interviewed are excited about the prospect of ERTs. The HCU pipeline contains two ERTs:
- Travere Therapeutics’ human-modified PEGylated cystathionine beta-synthase - pegtibatinase
- Aeglea BioTherapeutics’ human engineered PEGylated cystathionine gamma-lyase inhibitor - pegtarviliase
An analyst from the research firm, stated: 'Physicians hope that emerging ERTs will allow pyridoxine partial and non-responsive patients to liberalize their diet. Although current treatments can lower tHcy for pyridoxine partial and non-responsive patients, they require strict monitoring of dietary protein intake, which is nearly impossible for most patients to sustain.'
Table of Contents
1. DISEASE OVERVIEW- A rare, autosomal recessive disease resulting from enzyme deficiency and causing severe symptoms
- Figure 1.1. Homocystinuria metabolic pathway implications for current and future treatments
- HCU symptoms and complications
- Figure 1.2. HCU symptoms and complications
- HCU mode of inheritance
- Disease definition
- Figure 2.1. Diagnosed prevalent cases of CBS deficient HCU patients by region
- Table 2.1. Diagnosed prevalent and drug-treated populations of HCU in the U.S. and EU5
- Diagnosis overview
- Figure 3.1. Diagnostic pathway for homocystinuria patients
- Delayed diagnosis of homocystinuria is largely due to inadequate newborn screening
- Figure 3.2. Drivers of delayed diagnosis in homocystinuria patients
- Figure 3.3. The four P’s for improved homocystinuria diagnosis
- Biochemical testing is standard for confirming a diagnosis, while molecular testing is largely dependent on insurance coverage
- Figure 3.4. Genetic testing use in homocystinuria patients
- Figure 3.5. Segmentation of HCU population by response to pyridoxine treatment
- Treatment of homocystinuria is standard, with few therapeutic options
- Figure 3.6. Treatment goals for homocystinuria
- Figure 3.7. Interviewed U.S. geneticist homocysteine level goals
- Treatment algorithm
- Figure 3.8. Treatment algorithm for the management of homocystinuria
- Medical geneticists’ insight on current homocystinuria treatment approaches
- Upsides and downsides of betaine
- Figure 3.9. Upside and downside of betaine treatment
- Key treatment dynamics that will shape disease management and drug use in homocystinuria
- Table 3.1. Must-know homocystinuria market dynamics
- Figure 3.10. Medical geneticist-reported average % of homocystinuria patients not satisfied with current treatments
- There is a large opportunity for a therapy that will reduce strict dietary modification
- Figure 3.11. Important dynamics of homocystinuria market evolution
- Overview
- Figure 4.1. Physician-reported unmet needs in homocystinuria patients
- Overview
- Table 5.1. Emerging HCU therapies
- Efficacy and safety will be important drivers of future product differentiation in homocystinuria
- Figure 5.1. Attributes that will drive uptake for emerging HCU therapies
- Geneticist insights on clinical-stage products in development
- Insurance coverage of HCU patients
- Table 6.1. Current pricing of HCU treatments
- Overview of drug analogues
- Table 6.2. Current PKU therapy pricing, U.S.
- Commercial payer requirement of drug analogues
- Table 6.3. Summary of commercial insurance requirements for Kuvan and Palynziq
- BioMarin patient access strategies for Kuvan and Palynziq
- Figure 6.1. BioMarin market access strategies to promote access to Kuvan and Palynziq in the United States
- Primary market research approach
- Epidemiology methodology
- Epidemiology methodology cont.
- Table 7.1. Key population dynamics references
- Table 7.2. Patient segmentation references
Samples
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Companies Mentioned
- Travere Therapeutics
- Aeglea BioTherapeutics
- Synlogic Therapeutics
- Codexis
