European patients' registry for urea cycle defects and organic acidaemias (E-IMD) and European network and registry for homocystinurias and methylation defects (E-HOD) and European post marketing registry for RAVICTI® (Glycerolphenylbutyrat), oral liquid, in cooperation with the European registry and network for intoxication type metabolic diseases – E-IMD (RRPE)

European patients' registry for urea cycle defects and organic acidaemias (E-IMD) and European network and registry for homocystinurias and methylation defects (E-HOD) and European post marketing registry for RAVICTI® (Glycerolphenylbutyrat), oral liquid, in cooperation with the European registry and network for intoxication type metabolic diseases – E-IMD (RRPE) - E-IMD/ EHOD/ RRPE

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00013085

Enrollment

1500

Registered

2017-10-16

Start date

2011-02-07

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

E72.2 E72.4 E72.1 E72 E71.1

Interventions

Group 1: Assessment of the clinical history and relevant laboratory-chemical, therapeutic, instrumental and neuropsychological parameters by the study centers. For patients taking part in the Ravicti

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: General inclusion criteria: - Confirmed diagnosis of OAD, UCD, homocystinuria or methylation defects, - Written informed consent. Additional inclusion criteria for the participation in the RRPE post marketing registry part: - Confirmed diagnosis of UCD in whom treatment with RAVICTI® had been initiated or - Confirmed diagnosis of UCD in whom treatment with nitrogen scavenging medication other than RAVICTI® had been initiated. or - Children of mothers with confirmed diagnosis of UCD taken RAVICTI® during pregnancy or lactation period.

Exclusion criteria

Exclusion criteria: - Metabolic derangement induced by other metabolic diseases not included in this study (e.g. fatty acid oxidation defects, lysinuric protein intolerance, gyrate atrophy, mitochondrial disorders, congenital lactic acidemia, D-2- and L-2-hydroxyglutaric aciduria, glutaric aciduria type II or III or cerebral folat carrier deficiency. - Other errors of cobalamin metabolism (e.g. acquired cobalamin (vitamin B12) deficiency due to malnutrition or failure of absorption or hyperhomocystinemia due to MTHFR gene polymorphism).

Design outcomes

Primary

Measure	Time frame
Data collection takes place within the framework of regular outpatient visits. The objectives are: what are the natural history and major long-term manifestations of organic acidurias, urea cycle defects, homocystinurias and methylation defects?	—

Secondary

Measure	Time frame
1. What is the incidence of these rare diseases in Europe? 2. Which discrepancies exist in European countries regarding diagnosis, treatment and long-term management of these patients? 3. How does age at diagnosis and mode of treatment influence the disease course? 4. How do these rare diseases affect the quality of life of patients and their families? 5. Identification and characterization of adverse drug reactions (ADR) in the monitoring of Ravicti after market launch.	—

Measure

Time frame

1. What is the incidence of these rare diseases in Europe? 2. Which discrepancies exist in European countries regarding diagnosis, treatment and long-term management of these patients? 3. How does age at diagnosis and mode of treatment influence the disease course? 4. How do these rare diseases affect the quality of life of patients and their families? 5. Identification and characterization of adverse drug reactions (ADR) in the monitoring of Ravicti after market launch.

—

Countries

Austria, Belgium, Croatia, Czechia, Denmark, France, Germany, Greece, Italy, Netherlands, Poland, Portugal, Spain, Switzerland, Taiwan, United Kingdom, United States

Contacts

Public ContactStefan Kölker

Universitätsklinikum HeidelbergZentrum für Kinder- und Jugendmedizin

Stefan.Koelker@med.uni-heidelberg.de0049 (0)6221-564002

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026