PAG (University of Chicago)

Drug development for homocystinuria is limited to just three clinical-stage products, two of which are injectable enzyme replacement therapies (ERTs). NEWTON, Mass., April 11, 2023 /PRNewswire/ -- 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. To access REACH's MarketVue® Report on classic HCU, visit or contact us at [email protected]. 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. About MarketVue® MarketVue® reports are a rare disease focused, fresh alternative to traditionally long and outdated market research reports. MarketVue® reports cover rare disease epidemiology and key market dynamics based on research from key opinion leader interviews, physician surveys, and secondary data. About REACH Market Research REACH is an independent pharmaceutical market research company focused on rare and niche diseases. With decades of experience in pharmaceutical market research and life sciences consulting, REACH fills an important gap in the market – accessible market research solutions for rare and niche diseases. SOURCE REACH Market Research