ERNDIM Workshop SSIEM 2008ERNDIM Workshop SSIEM 2008

Creatine Synthesis DisordersCreatine Synthesis Disorders

11:00 – 11:15 11:00 – 11:15 Update from the ERNDIM Board Update from the ERNDIM Board Brian FowlerBrian Fowler11:15 – 11:3011:15 – 11:30 Common DPT sample 2008Common DPT sample 2008

Viktor KozichViktor Kozich11:30 – 11:4011:30 – 11:40 Performance in ERNDIM special assays for Performance in ERNDIM special assays for creatine synthesis disorderscreatine synthesis disorders

Alberto BurlinaAlberto Burlina11:40 – 12:1011:40 – 12:10 Clinical and Biochemical aspects of creatine Clinical and Biochemical aspects of creatine synthesis disorderssynthesis disorders S. StöcklerS. Stöckler12:10 – 12:40 12:10 – 12:40 Molecular genetic approaches for creatine Molecular genetic approaches for creatine synthesis disorders. synthesis disorders. G. SalomonsG. Salomons

ERNDIM Workshop SSIEM 2008ERNDIM Workshop SSIEM 2008

Update from the ERNDIM Board Update from the ERNDIM Board

Brian Fowler, BaselBrian Fowler, Basel

Current Activities of ERNDIMCurrent Activities of ERNDIM

• Current schemes and participant numbersCurrent schemes and participant numbers

• New participation certificate for 2007 !!New participation certificate for 2007 !!

• Participants questionnaireParticipants questionnaire

• Web-site entry of results for the DPT schemesWeb-site entry of results for the DPT schemes

• Accreditation of EQA schemes and ERNDIMAccreditation of EQA schemes and ERNDIM

• Search for new central administrative office Search for new central administrative office

• Establishment of Performance Assessment CriteriaEstablishment of Performance Assessment Criteria

• Directory of LaboratoriesDirectory of Laboratories

• Amino Acid Questionnaire 125 / 197 received (63 %)Amino Acid Questionnaire 125 / 197 received (63 %)

• Training of Biochemists – SSIEM Academy WorkshopTraining of Biochemists – SSIEM Academy Workshop

• EurogentestEurogentest

• Officers: Executive Committee, Trust Board, SABOfficers: Executive Committee, Trust Board, SAB

Current Activities of ERNDIMCurrent Activities of ERNDIM

• Current schemes and participant numbersCurrent schemes and participant numbers

Current Schemes / ParticipantsCurrent Schemes / Participants

Scheme Scheme Number of participants Number of participants

2005/20082005/2008Quantitative amino acids Quantitative amino acids 160/200 160/200

Special Assays in Urine Special Assays in Urine 120/144120/144

Special Assays in Serum Special Assays in Serum 140/182 140/182

Quant. Organic Acids in Urine Quant. Organic Acids in Urine 55/ 8055/ 80

Quant. Purines and PyrimidinesQuant. Purines and Pyrimidines 40/49 40/49

Qualitative Organic Acids Qualitative Organic Acids 120/166120/166

Proficiency Scheme 4 centresProficiency Scheme 4 centres 86/ 86/

Proficiency Scheme 5 centresProficiency Scheme 5 centres /104/104

Acylcarnitines Acylcarnitines 6161

Cystine in WC Cystine in WC 25 / 3025 / 30

Total ParticipantsTotal Participants1994 / 20081994 / 2008123 / 265123 / 265

Current Schemes / Participants Current Schemes / Participants (123 (1994) / 265)(123 (1994) / 265)

Scheme Scheme Number of participants Number of participants Cost Cost 2005/20082005/2008

2005/20082005/2008Quantitative amino acids Quantitative amino acids 160/200 160/200 €161 /171€161 /171

Special Assays in Urine Special Assays in Urine 120/144120/144 €102 /108€102 /108

Special Assays in Serum Special Assays in Serum 140/182 140/182 €102 /108€102 /108

Quant. Organic Acids in Urine Quant. Organic Acids in Urine 55/ 8055/ 80 €198 /210€198 /210

Quant. Purines and PyrimidinesQuant. Purines and Pyrimidines 40/49 40/49 €209 /221€209 /221

Qualitative Organic Acids Qualitative Organic Acids 120/166120/166 €209€209 /221/221

Proficiency Scheme 4 centresProficiency Scheme 4 centres 86/ 86/ €268 /284€268 /284

Proficiency Scheme 5 centresProficiency Scheme 5 centres /104/104

Acylcarnitines Acylcarnitines 6161 €184 /196€184 /196

Cystine in WC Cystine in WC 25 / 3025 / 30 € ---- /221€ ---- /221

177177

Pilot schemesPilot schemesLysosomal Enzymes Lysosomal Enzymes CDGCDG

Current Activities of ERNDIMCurrent Activities of ERNDIM

• New participation certificate for 2007 !!New participation certificate for 2007 !!

Current Activities of ERNDIMCurrent Activities of ERNDIM

• Participants questionnaireParticipants questionnaire

• Frequency of samples• Sample volume• Appropriateness of analyte concentrations• Adequacy of the report• Website display• Usefulness of annual report• Value for money• Billing arrangements

Design

Responses

2007 2004 2001Total Participant 79 47 58

• Qualitative organic acids 50 (31%)• Quantitative organic acids 30 (39%)• Quantitative amino acids 65 (32%)• Special assays - urine 40 (31%)• Special assays - plasma 53 (30%)• Purine/pyrimidine 20 (39%)• Acyl carnitines 23 (31%)• Proficiency schemes 36 (35%)• Cystine in WBC 9 (32%)

Scores 2007 2004 2001

Average in all aspects in all schemes

1.69 1.95 2.02

Qualitative organic acids 1.61 1.96 1.88

Quantitative organic acids 1.73 1.93 2.06

Quantitative amino acids 1.71 1.92 2.04

Special assays - urine 1.76 1.90 2.08

Special assays - plasma 1.73 1.84 2.03

Purine/pyrimidine 1.56 1.83 2.08

Acyl carnitines 1.99 2.27 -

Proficiency schemes 1.67 1.95 1.96

Cystine in white blood cells

1.43 - -

Current Activities of ERNDIMCurrent Activities of ERNDIM

• Web-site entry of results for the DPT schemesWeb-site entry of results for the DPT schemes

User profile• A list of analytes and methods is displayed. The user selects the ones used in his lab.

• If a specific method is used, it is noted in the “user-defined” method field. Only one “user-defined” method is available per analyte.

User-defined method

Results entry (cont’d)•In step 2, the user enters the results for the analytes and methods defined in step 1.

• The parameter can be quantitative and/or with discrete values

Results entry (cont’d)• The diagnosis code can be entered in the OMIM diagnosis field

• The diagnosis reliability is selected using a pop-up menu.

Available for labs to test 10.10.08-31.10.08Available for labs to test 10.10.08-31.10.08

aim to use in 2009aim to use in 2009

Current Activities of ERNDIMCurrent Activities of ERNDIM

Accreditation of EQA schemes and ERNDIMAccreditation of EQA schemes and ERNDIM

Plan for accreditation of ERNDIMPlan for accreditation of ERNDIM

•Decision to go aheadDecision to go ahead end of 2007end of 2007•Decision on accreditation body (UKAS)Decision on accreditation body (UKAS)•Decide on physical location of activities. ERNDIM base, where are Decide on physical location of activities. ERNDIM base, where are documents stored, best in centre which is accredited.documents stored, best in centre which is accredited. October 2008October 2008

•Identification of necessary costs and source of fundingIdentification of necessary costs and source of funding November 2008November 2008

•Documentation of all activities in SOP formatDocumentation of all activities in SOP format•Development of document control systemDevelopment of document control system according to generic/ guide according to generic/ guide •Quality management handbook Quality management handbook

June 2009June 2009•Run the system for 1-2 years Run the system for 1-2 years June 2010June 2010

•Apply to accreditation bodyApply to accreditation body End 2010End 2010•and many more things not listedand many more things not listed

Current Activities of ERNDIMCurrent Activities of ERNDIM

• Search for new central administrative office Search for new central administrative office

Search for new central administrative officeSearch for new central administrative office

Negotiations with EMQN (Dr. Rob Elles) in St. Mary's Negotiations with EMQN (Dr. Rob Elles) in St. Mary's Hospital Manchester (Perhaps integrate SSIEM)Hospital Manchester (Perhaps integrate SSIEM)

• Malcolm Heron retires 2009 Malcolm Heron retires 2009

• Physical office needed for accreditationPhysical office needed for accreditation

• Sharing of quality management tools Sharing of quality management tools

• etc. etc.etc. etc.

Current Activities of ERNDIMCurrent Activities of ERNDIM

• Establishment of Performance AssessmentEstablishment of Performance Assessment

Recommendations on performance assessment scoring in Recommendations on performance assessment scoring in ERNDIM qualitative proficiency testing schemes ERNDIM qualitative proficiency testing schemes

Jim Bonham, Neil Dalton, Marinus Duran, Brian Fowler, Claus-Jim Bonham, Neil Dalton, Marinus Duran, Brian Fowler, Claus-D. Langhans, Rodney Pollitt, Christine Vianey-Saban and D. Langhans, Rodney Pollitt, Christine Vianey-Saban and Viktor KožichViktor Kožich

The purpose of this recommendation is to harmonize the The purpose of this recommendation is to harmonize the evaluation of diagnostic proficiency of laboratories evaluation of diagnostic proficiency of laboratories participating in qualitative ERNDIM Schemesparticipating in qualitative ERNDIM Schemes

Final version Mount on our web-siteFinal version Mount on our web-site

Current Activities of ERNDIMCurrent Activities of ERNDIM

• Directory of LaboratoriesDirectory of Laboratories

Directory of LaboratoriesDirectory of Laboratories

• Number labs Number labs 128 with fully verified information128 with fully verified information

• Number AnalytesNumber Analytes 474 474

• remaining European labs Identified and contactedremaining European labs Identified and contacted

• Extension of Information on labsExtension of Information on labs

accreditation status, harmonisation with accreditation status, harmonisation with other EUGT lab directoryother EUGT lab directory

Current Activities of ERNDIMCurrent Activities of ERNDIM

• Amino Acid Questionnaire 125 / 197 received (63 %)Amino Acid Questionnaire 125 / 197 received (63 %)

Current Activities of ERNDIMCurrent Activities of ERNDIM

• Training of BiochemistsTraining of Biochemists

– – SSIEM Academy WorkshopSSIEM Academy Workshop

Training of BiochemistsTraining of Biochemists

• Training resources on web-site Training resources on web-site (M. Henderson)(M. Henderson)

http://www.metbio.net http://www.metbio.net training in various countriestraining in various countries

• SSIEM Academy Lisbon Monday 1.9.08SSIEM Academy Lisbon Monday 1.9.08

ERNDIM involvedERNDIM involved

• EUGT workshops for BGT labsEUGT workshops for BGT labsregionalregional

Current Activities of ERNDIMCurrent Activities of ERNDIM

EurogentestEurogentest

EurogentestEurogentest

• Harmonisation with Cyto- Molecular geneticsHarmonisation with Cyto- Molecular genetics

Continues (accreditation of labs, schemes and ERNDIM Continues (accreditation of labs, schemes and ERNDIM itself)itself)

New sub-group of the European Society for Human GeneticsNew sub-group of the European Society for Human Geneticsfor Quality issues with full representation of ERNDIMfor Quality issues with full representation of ERNDIM

• Expansion and improvement of Biochemical Genetic Testing Expansion and improvement of Biochemical Genetic Testing in Europein Europe

Report of present state and proposed measures for Report of present state and proposed measures for improvement (ERNDIM website – Meetings and Reportsimprovement (ERNDIM website – Meetings and Reports"Best Practice EUGT UPDATED")"Best Practice EUGT UPDATED")

• Development of Guidelines for MethodologyDevelopment of Guidelines for Methodology

Organic acids, MPS, Purines / PyrimidinesOrganic acids, MPS, Purines / PyrimidinesLysosomal Enzymes, Acyl CarnitinesLysosomal Enzymes, Acyl Carnitines

Current Activities of ERNDIMCurrent Activities of ERNDIM

• Officers: Officers:

National Representatives, Executive National Representatives, Executive Committee, Committee,

Country Country NameName CountryCountry NameName

Austria Olaf Bodamer

Czech Viktor Kozich

Denmark Ernst Christensen

Finland Kari Pulkki

France Christine Vaney-Saban

Germany Claus-DieterClaus-Dieter LanghansLanghans

Greece Helen Michelakakis

Italy Ubaldo Caruso

Netherlands Ries Duran

Portugal M.I. Tavares de Almeida

Spain Antonia Ribes

Sweden Elisabeth Holme

Switzerland Brian Fowler

United Kingdom

James Bonham

Belgium Marie Vincent

Cyprus Anthi Drousiotou

Estonia Katrin Ounap

Hungary Agnes Schuler

Ireland Philip Mayne

Latvia Parsla Vevere

Lithuania Jurgita Songailiene

Luxembourg Jean-Paul Hoffmann

Malta Isabella Borg

Poland Ewa Pronicka

Slovakia Darina Behulova

Slovenia M. Zerjav-Tansek

Bulgaria

Croatia Ksenija Fumic

Rumania

ERNDIM National RepresentativesERNDIM National Representatives

Norway Norway

Still LookingStill Looking

Still LookingStill Looking

Treasurer Treasurer Ann Brown 2007Ann Brown 2007

Schemes Representative, Chair of SAB Schemes Representative, Chair of SAB Jim BonhamJim Bonham

Secretary Secretary Christine Saban 2007Christine Saban 2007

ChairmanChairman Brian Fowler replacement end 2008 Brian Fowler replacement end 2008

Executive Committee MembersExecutive Committee Members

Mick HendersonMick Henderson

FinancesFinances

Thanks to Ann Brown and Malcolm HeronThanks to Ann Brown and Malcolm Heron

Aim is Neutral BudgetAim is Neutral Budget

20062006 20072007

Total Income Total Income 162'065162'065 185'136185'136Everybody must pay (and they do)Everybody must pay (and they do)

Payment to scheme organisersPayment to scheme organisersAdministration/CommitteeAdministration/Committee 140'931140'931 162'618162'618

Surplus Surplus 21'13421'134 22'51822'518

ReservesReserves 121'496121'496 144'014144'014

FinancesFinances

Thanks to Ann Brown and Malcolm HeronThanks to Ann Brown and Malcolm Heron

Aim is Neutral BudgetAim is Neutral Budget

20062006 20072007

Total Income Total Income 162'065162'065 185'136185'136Everybody must pay (and they do)Everybody must pay (and they do)

Payment to scheme organisersPayment to scheme organisersAdministration/CommitteeAdministration/Committee 140'931140'931 162'618162'618

Surplus Surplus 21'13421'134 22'51822'518

ReservesReserves 121'496121'496 144'014144'014

Only 2%

Only 2%

increase for 2

008

increase for 2

008

schemes

schemes

Thanks to Thanks to Malcolm Heron !!Malcolm Heron !!

ERNDIM Workshop SSIEM 2008ERNDIM Workshop SSIEM 2008

Creatine Synthesis DisordersCreatine Synthesis Disorders

11:00 – 11:15 11:00 – 11:15 Update from the ERNDIM Board Update from the ERNDIM Board Brian FowlerBrian Fowler11:15 – 11:3011:15 – 11:30 Common DPT sample 2008Common DPT sample 2008

Viktor KozichViktor Kozich11:30 – 11:4011:30 – 11:40 Performance in ERNDIM special assays for Performance in ERNDIM special assays for creatine synthesis disorderscreatine synthesis disorders

Alberto BurlinaAlberto Burlina11:40 – 12:1011:40 – 12:10 Clinical and Biochemical aspects of creatine Clinical and Biochemical aspects of creatine synthesis disorderssynthesis disorders S. StöcklerS. Stöckler12:10 – 12:40 12:10 – 12:40 Molecular genetic approaches for creatine Molecular genetic approaches for creatine synthesis disorders. synthesis disorders. G. SalomonsG. Salomons