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 https://reachmr.com or contact us at info@reachmr.com.

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MarketVue® reports are a rare disease focused, fresh alternative to traditionally long and outdated market research reports.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.