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 projects with links to publications

1. Newborn screening for homocystinurias: Recent recommendations versus current practice
2. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
3. Homocystinuria Patient and Caregiver Survey: Experiences of Diagnosis and Patient Satisfaction
4. Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency
5. Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
6. Postauthorization safety study of betaine anhydrous
7. Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency

Ongoing projects (if you are interested, contact the project leaders)

1. Protocol for a dose escalation study in remethylation disorders

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

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

          Luciana Hannibal 

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

         Jolanta Cegielska and Karolina Stepien

4. Cystathionine β-synthase deficiency in the E-HOD registry-part II: Dietary and pharmacological treatment

        Andrew Morris, Marketa Pavlikova, Jitka Sokolova, Martina Huemer and Viktor Kozich

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.