E-HOD Projects

E-HOD consortium supports development of guidelines/recommendations and research activities in the field of homocystinurias, and methylation and remethylation disorders.

Completed project

  1. Newborn screening for homocystinurias: Recent recommendations versus current practice


  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry


  1. Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency (publication in press)


Ongoing projects

  1. CBS natural history study of 328 patients from the E-HOD registry

          Viktor Kožich and Martina Huemer

  1. Homocystinuria Patient and Caregiver Survey: Experiences of Diagnosis and Patient Satisfaction

          Tara Morrison, Martina Huemer and Andrew A. Morris 

  1. CBS deficiency: study on therapy in 328 patients from the E-HOD registry

         Viktor Kožich and Andrew A. Morris

  1. Cystadane surveillance protocol

         Stefan Kölker and Florian Gleich 

  1. Protocol for a dose escalation study in remethylation disorders

          Carlo Dionisi-Vici, Maria Luz Couce Pico, Diego Martinelli, Matthias Baumgartner and Martina Huemer

  1. MTHFR deficiency: influence of early initiation of therapy on long-term outcome

          Manuel Schiff and Apolline Imbard

  1. Origin and consequences of abnormally elevated vitamin B12 in plasma

          Luciana Hannibal 

  1. Prenatal treatment in remethylation disorders: outcomes from pregnancies of affected women and from healthy mothers with an affected fetus

         Jolanta Cegielska and Karolina Stepien

How to start a new project

To start a new E-HOD project, you have to be a member of the E-HOD consortium. Applications for new projects require filling the form that can be downloaded here and sent to the Coordinators of the Scientific Board - Ivo Baric and Luciana Hannibal, who can be contacted directly or via this form. The application is evaluated for feasibility and soundness by the SB and the applicants are informed within about 2 months following application.

This is E-HOD

European network and registry for homocystinurias and methylation defects. Its aim is to improve the health of children, adolescents and adults affected with these rare disorders.
E-HOD has been funded by the European Commission through its Public Health and Consumer Protection Directorate (DG SANCO), PHEA programme (more information).