Research & Trials

We are research ready!

We are on an urgent mission to better newborn screening, understand disease manifestation and help drive better therapies for those affected by homocysteine related disorders. Our team works rapidly to care for those diagnosed with the homocystinurias and to accelerate vital research.

Currently there is one FDA approved treatment across all homocystinurias and no cure for homocysteine related disorders. The one treatment does reduce homocysteine levels, but in many cases it's not enough on it's own. The other recommended therapies are expensive and onerous, and still leave patients at risk for developing symptoms. The goal of our research is to better understand the disease manifestations, find treatment and ultimately a cure!

HCU Network America is the only group in the US focused on these group of disorders and funding critical research. Our path to treatment is clear and we must act fast, as those left undiagnosed, or untreated are at risk. We need your help.

Our areas of focus

We fund research to

  • advance newborn screening, specifically technologies to improve early detection of classical homocystinuria and remethylation disorders, particularly via primary markers for newborn screening
  • New therapies to treat classical homocystinuria and remethylation disorders by exploring novel mechanisms to obtain proof of concept to enable progression to clinical trials

For the most current,  up-to-date list of clinical trials and studies involving HCU, CBS, MTHFR and Cbl, please visit the Clinical Trials website