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

Recruiting

• Conditions: E72.2; E72.4; E72.1; E72; E71.1; Disorders of urea cycle metabolism; Disorders of ornithine metabolism; Disorders of sulfur-bearing amino-acid metabolism; Other disorders of amino-acid metabolism; Other disorders of branched-chain amino-acid metabolism

• Registration Number: DRKS00013085
• Lead Sponsor: niversitätsklinikum Heidelberg

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2017-10-16
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 1500

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

- 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).

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

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