Trial document





This trial has been registered retrospectively.
drksid header

  DRKS00013085

Trial Description

start of 1:1-Block title

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)

end of 1:1-Block title
start of 1:1-Block acronym

Trial Acronym

E-IMD/ EHOD/ RRPE

end of 1:1-Block acronym
start of 1:1-Block url

URL of the Trial

http://www.e-imd.org/ and http://www.e-hod.org/

end of 1:1-Block url
start of 1:1-Block public summary

Brief Summary in Lay Language

[---]*

end of 1:1-Block public summary
start of 1:1-Block scientific synopsis

Brief Summary in Scientific Language

The E-IMD and E-HOD patient registry addresses the following key question:
What are the natural history and major long-term manifestations of organic acidurias, urea cycle defects, homocystinurias and methylation defects?
This objective will define the variation of the disease course and the range of complications currently experienced by children, adolescents, and adults with OADs, UCDs, homocystinurias and methylation defects in terms of their symptoms and as demonstrated by examination and their tests results. This also includes their frequencies of variant disease courses and the delineation of a genotype/phenotype correlation (if any).
The secondary objectives are:
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?

The RRPE patient registry has the following aim:
Evaluation and characterisation of the safety profile of RAVICTI® and tracking of the long-term outcomes in UCD patients treated with RAVICTI® and in children of UCD mothers treated with RAVICTI® during pregnancy and/or lactation period to fulfil an EMA post-authorization measure (PAM).

end of 1:1-Block scientific synopsis
start of 1:1-Block organizational data

Organizational Data

  •   DRKS00013085
  •   2017/10/16
  •   [---]*
  •   yes
  •   No approval required according to EC
  •   S-525/2010, Ethik-Kommission I der Medizinischen Fakultät Heidelberg
end of 1:1-Block organizational data
start of 1:n-Block secondary IDs

Secondary IDs

  • [---]*
end of 1:n-Block secondary IDs
start of 1:N-Block indications

Health Condition or Problem studied

  •   E72.2 -  Disorders of urea cycle metabolism
  •   E72.4 -  Disorders of ornithine metabolism
  •   E72.1 -  Disorders of sulfur-bearing amino-acid metabolism
  •   E72 -  Other disorders of amino-acid metabolism
  •   E71.1 -  Other disorders of branched-chain amino-acid metabolism
end of 1:N-Block indications
start of 1:N-Block interventions

Interventions/Observational Groups

  •   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)).
end of 1:N-Block interventions
start of 1:1-Block design

Characteristics

  •   Non-interventional
  •   Observational study
  •   Single arm study
  •   Open (masking not used)
  •   [---]*
  •   Uncontrolled/Single arm
  •   Other
  •   Single (group)
  •   N/A
  •   N/A
end of 1:1-Block design
start of 1:1-Block primary endpoint

Primary Outcome

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?

end of 1:1-Block primary endpoint
start of 1:1-Block secondary endpoint

Secondary Outcome

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.

end of 1:1-Block secondary endpoint
start of 1:n-Block recruitment countries

Countries of Recruitment

  •   Germany
  •   Italy
  •   United Kingdom
  •   France
  •   Portugal
  •   Belgium
  •   United States
  •   Denmark
  •   Netherlands
  •   Czech Republic
  •   Spain
  •   Switzerland
  •   Austria
  •   Taiwan, Province of China
  •   Poland
  •   Greece
  •   Croatia
end of 1:n-Block recruitment countries
start of 1:n-Block recruitment locations

Locations of Recruitment

  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • Medical Center 
  • Medical Center 
  • University Medical Center 
  • Medical Center 
  • University Medical Center 
  • University Medical Center 
  • Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • Medical Center 
  • University Medical Center 
  • Medical Center 
  • Medical Center 
  • Medical Center 
  • Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
end of 1:n-Block recruitment locations
start of 1:1-Block recruitment

Recruitment

  •   Actual
  •   2011/02/07
  •   1500
  •   Multicenter trial
  •   International
end of 1:1-Block recruitment
start of 1:1-Block inclusion criteria

Inclusion Criteria

  •   Both, male and female
  •   no minimum age
  •   no maximum age
end of 1:1-Block inclusion criteria
start of 1:1-Block inclusion criteria add

Additional 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.

end of 1:1-Block inclusion criteria add
start of 1:1-Block 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).

end of 1:1-Block exclusion criteria
start of 1:n-Block addresses

Addresses

end of 1:n-Block addresses
start of 1:n-Block material support

Sources of Monetary or Material Support

  • start of 1:1-Block address materialSupport
    • European Commission: Public Health and Consumer Protection Directorate (DG SANCO)
    • 1049   Brüssel
    • Belgium
    end of 1:1-Block address materialSupport
    start of 1:1-Block address contact materialSupport
    •   [---]*
    •   [---]*
    •   [---]*
    •   [---]*
    end of 1:1-Block address contact materialSupport
  • start of 1:1-Block address otherSupport
    • Horizon Pharma Ireland Ltd.
    • 1 Burlington Road
    • D04 C5Y6  Dublin
    • Ireland
    end of 1:1-Block address otherSupport
    start of 1:1-Block address contact otherSupport
    •   [---]*
    •   [---]*
    •   [---]*
    •   [---]*
    end of 1:1-Block address contact otherSupport
end of 1:n-Block material support
start of 1:1-Block state

Status

  •   Recruiting ongoing
  •   [---]*
end of 1:1-Block state
start of 1:n-Block publications

Trial Publications, Results and other Documents

  • [---]*
end of 1:n-Block publications
* This entry means the parameter is not applicable or has not been set.