Classical Homocystinuria (U.S.), March 2023
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.
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: Gain insights into the drug pricing landscape and payer controls within the disease market or analogous markets
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
Betaine is the only FDA-approved treatment for homocystinuria, however, according to REACH Market Research’s MarketVue® assessment, medical geneticists state that its efficacy is limited in reducing total plasma homocysteine levels (tHcy), the primary goal of treatment. HCU patients who are pyridoxine-responsive are well managed with pyridoxine, however, most HCU patients are pyridoxine partial or non-responsive, and these patients represent the population for a which there is a large unmet need for efficacious tHcy lowering treatments.
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 by REACH 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
Medical geneticists report that preliminary results from Travere’s clinical trials for pegtibatinase, showing a 55% reduction in tHcy, are promising.
Pooja Patel, Analyst at REACH: “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.”
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
2. EPIDEMIOLOGY & PATIENT POPULATIONS
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
3. DIAGNOSIS & CURRENT TREATMENT
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
4. UNMET NEED
Overview
Figure 4.1. Physician-reported unmet needs in homocystinuria patients
5. PIPELINE ANALYSIS
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
6. VALUE & ACCESS
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
7. METHODOLOGY
Primary market research approach
Epidemiology methodology
Epidemiology methodology cont.
Table 7.1. Key population dynamics references
Table 7.2. Patient segmentation references
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REACH specializes in covering diseases and subpopulations that are not addressed by traditional market research reports. As such, we focus on rare diseases and niche subpopulations of more common conditions (e.g., Dupixent-refractory atopic dermatitis). Our flexible model enables in-depth assessments across all disease types, allowing us to support research for non-rare conditions as well.
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