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)

• Register: German Clinical Trials Register
• Last refreshed on: 8 April 2024
• Main ID: DRKS00013085
• Date of registration: 16/10/2017
• Prospective Registration: No
• Primary sponsor: Universitätsklinikum Heidelberg
• Public title: 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)
• Scientific title: 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
• Date of first enrolment: 07/02/2011
• Target sample size: 1500
• Recruitment status: Recruiting
• URL: http://drks.de/search/en/trial/DRKS00013085
• Study type: observational
• Study design: Allocation: ; Masking: ; Control: ; Assignment: ; Study design purpose: other

Countries of recruitment

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

Contacts

• Name: Stefan Kölker
• Affiliation: Universitätsklinikum HeidelbergZentrum für Kinder- und Jugendmedizin

• Name: Stefan Kölker
• Affiliation: Universitätsklinikum HeidelbergZentrum für Kinder- und Jugendmedizin

Key inclusion & exclusion 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: - 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).


Age minimum: None
Age maximum: None
Gender: All

Health Condition(s) or Problem(s) studied

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

Disorders of ornithine metabolism

E71.1

Disorders of urea cycle metabolism

Disorders of sulfur-bearing amino-acid metabolism

E72.2

Other disorders of amino-acid metabolism

E72.1

E72.4

Other disorders of branched-chain amino-acid metabolism

Intervention(s)

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 registry adverse events will be detailed documented. Data collection takes place within the framework of elective outpatient visits. The collected parameters are congruent with the current standard investigations. There will be no extra parameters assessed. Quality of life questionnaires will be used (World Health Organization Quality of Life (WHOQOL), Pediatric Quality of Life (PedsQL)).

Primary Outcome(s)

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(s)

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.

Source(s) of Monetary Support

Immedica Pharma AB

European Commission: Public Health and Consumer Protection Directorate (DG SANCO)

Ethics review

Status: No approval required according to the EC
Approval date: 31/01/2011
Contact:

[e-mail]

Ethikkommission der Medizinischen Fakultät Heidelberg

[phone]

[e-mail]

Results

• URL: http://drks.de/search/en/trial/DRKS00013085#studyResults