ERNDIM-QAP Phase II: Development of an european quality assurance program of analytical methods used in the detection of an monotoring of treatment of inherited disorders of metabolism

• Forschungsstelle: EU FRP
• Projektnummer: 97.0405-2
• Projekttitel Englisch: ERNDIM-QAP Phase II: Development of an european quality assurance program of analytical methods used in the detection of an monotoring of treatment of inherited disorders of metabolism

Schlüsselwörter (Englisch)

Inherited disorders of metabolism; proficiency testing; interlaboratory reproducibility

Alternative Projektnummern (Englisch)

EU project number: BMH4CT983404

Forschungsprogramme (Englisch)

EU-programme: 4. Frame Research Programme - 4.2 Agriculture and agroindustry

Kurzbeschreibung (Englisch)

See abstract

Weitere Hinweise und Angaben (Englisch)

Full name of research-institution/enterprise:
Universität Basel
Universitäts-Kinderspital beider Basel

Partner und Internationale Organisationen (Englisch)

Coordinator: DWI (B)

Abstract (Englisch)

Improved treatment and outcome in the rare, often life threatening, Inborn Disorders of Metabolism (IDM) demands international pooling of data. European-wide quality assurance schemes (QAS) established by ERNDIM (European Research Network for the Diagnosis of Inherited Metabolic Disorders) in Biomed 1 pointed to the need for improved quality of analysis and diagnosis in IDMs. Such improvements will ensure free mobility of patients between and within countries, without metabolite values for treatment control having different meaning in another centre. This project had the aim of improving the schemes and maximising participation of European IDM labs.
The subproject on improving technical performance in IDM laboratories identified potential laboratories for these QAS. Recommendations to encourage participation include: increased awareness of QAS through our web site or direct approach by scheme organisers; clarification of the different roles of research laboratories performing diagnosis, versus routine service laboratories, at governmental level; linking of national accreditation schemes to participation in QC schemes; and additional schemes for QC. Initial steps have been taken to develop European-wide QAS for Newborn Screening laboratories.
The sub project on standardisation of reference materials and methods for amino acid analysis established the main areas of imprecision. A standard operating procedure for amino acids, to counter these, will be made available to ERNDIM participants. It is recommended that standard operating procedures should be produced for other relevant methods and the DG3 of the EU should take on the remit of developing rare standards, particularly those which are not commercially available.
ERNDIM proficiency schemes test diagnostic performance of a laboratory, including test selection and interpretation, and additional ones for Northern and Central Europe alongside the existing one for the Belgium/Netherlands/Germany have been successful established. Continuance of such schemes is recommended and guidelines for their operation have been proposed.
A directory of European laboratories performing analysis in IDM, with emphasis on participation of individual laboratories in the QAS, has been successfully produced. The directory will be maintained on the Society for Study of Inborn Errors of Metabolism (SSIEM) web site, allowing for regular updating of existing centres and addition of new laboratories. National accreditation authorities should be made aware of participation of assessed laboratories in existing QAS and of which tests are covered by our QAS.
The establishment of reference values for IDM metabolites in body fluids was not fulfilled. A difficulty is overcoming ethical hurdles in obtaining sufficient samples. Increased awareness of metabolite value variation in interpreting collaborative study data is needed. When inter-laboratory variation is improved consensus control and critical decision values for diagnositc and treatment monitoring purposes should be established.
Promotion of educational activities was successfully achieved by seminars and newsletters. National QAS meetings, workshops at the annual symposium of the SSIEM in York and Genoa, as well as regular meetings of the ERNDIM Board and of the Executive Committee all took place within this part of the project. It is recommended that these be continued as QAS educational activities along with newsletters and internet interaction to maximise contact between scheme organisers and participants. Also guidelines on GLP, standards and normal ranges should be compiled and distributed as a continuing educational aspect of the QAS.

Datenbankreferenzen (Englisch)

Swiss Database: Euro-DB of the
State Secretariat for Education and Research
Hallwylstrasse 4
CH-3003 Berne, Switzerland
Tel. [phone]
Swiss Project-Number: 97.0405-2