EPIRARE_Results_Domenica Taruscio.pdf - Treat-NMD

Neuromuscular patient registries in EPIRARE (results) 

and RD Connect (plans) 

Domenica Taruscio 

Director 

National Center for Rare Diseases 

Istituto Superiore di Sanità 

Rome, Italy 

domenica.taruscio@iss.it 

. 

6th TREAT-NMD Curators’ & 5th TGDOC Meeting 

Saturday and Sunday, 29th-30th September 2012, Istanbul, Turkey

Background 

• More than 500 RD registries in the EU 

• No uniform standards for the storing and management of 

data 

• Registries set up for 20% of rare diseases, more registries 

for the same RD 

• Need to increase data sharing and exchange 

• Need to harmonise existing regulations (EU, national and 

regional) 

The EU Council Recommendation on Rare Diseases (adopted in 

June 2009) recommends, among other topics, the implementation of 

registers and databases for epidemiological purposes. 

Many initiatives may appear in the coming years. 



Building Consensus and Synergies 

European Platform for Rare Disease Registries 

EPIRARE 

Co-funded by the EU Commission (DG SANCO) 

Starting date: April 2011 

Duration: 30 months (April 2011 – October 2013) 

Coordinator of the project: 

National Center for Rare Disases 

Italian National Institute of Health (Istituto 

Superiore di Sanità) – Rome, Italy 



EPIRARE objectives 

General objective 

• To build consensus and synergies to address regulatory, ethical and 

technical issues associated with the registration of RD patients and to 

elaborate possible policy scenarios. 

Specific Objectives 

• To identify the needs of RD registries and databases in the EU 

• To create a platform of tools and services for the registration of RD 

patients and to promote data exchange 

• To identify key issues to prepare a legal basis 

• To agree on the Platform Scope, Governance and long-term 

sustainability 

• To agree on a Common data set, disease-specific data collection and 

data validation 



Overview on the current situation, 

the challenges and the expectations 

of RD registries in the EU 

The EPIRARE Survey 



Domains investigated 

• Aims and scope of existing RD registries 

• Data sources and kind of data collected 

• Methodology and quality issues 

• Data protection and ethical issues 

• Governance, communication and data sharing 

• Financial sustainability 

• Needs, expectations, opinions on the platform 



Methods 

• Questionnaire developed between June and October 2011; 

• Available questionnaires on RD registries consulted; 

• Draft discussed during the first EPIRARE meeting (Rome, 

July 12 and 13, 2011); 

• Questionnaire available online and tested by 10 registrars 

on October 2011; 

• Invitations to participate in the survey sent out using 

different channels, including the registry directory in 

Orphanet and other networks like Treat NMD 

• Data collected from November 2011 to February 2012 



Results 

• 272 records 

• 254 participants 

• 22 “non active registries” (not collecting data) 

• 233 “active registries” (collecting data) 

• 220 considered for analysis 

• 34 registries from the TREAT NMD network 



Treat NMD registries: 

General characteristics 



Country, year of establishment 

Algérie, Argentina, Australia, 

Belgium, Bulgaria, Canada, 

China, Croatia, Czech Republic, 

Denmark, Estonia, Finland, 

France, Georgia, Germany, 

Greece, Hungary, Iran, Ireland, 

Italy, Japan, Latvia, Macedonia, 

Mexico, Netherlands, New 

Zealand, Norway, Poland, 

Romania, Russia, Serbia, 

Slovenia, Spain, Sweden, 

Switzerland, Turkey, UK, 

Ukraine, USA 



Dimension and volume of activity 



Geographical coverage and target population 



Aims of the registry 



Aims of the registry: ALL registries vs Treat NMD 

Answe r Op tio ns 

Epidemiological research 

Clinical research (patient 

Natural history of the disease 

Disease surveillance 

Genotype-phenotype correlation 

Treatment evaluation (efficacy) 

Mutation database 

Healthcare Services planning 

Treatment monitoring (safety) 

Social planning 

Other (specify): 

ALL 

T re a t NMD 

Resp o nse Resp o nse Resp o nse Resp o nse 

Pe rce nt Co unt Pe rce nt Co unt 

70,8% 155 45,5% 15 

61,2% 134 84,8% 28 

60,7% 133 60,6% 20 

55,7% 122 33,3% 11 

53,4% 117 69,7% 23 

42,9% 94 24,2% 8 

42,9% 94 75,8% 25 

33,8% 74 33,3% 11 

33,3% 73 21,2% 7 

19,2% 42 18,2% 6 

a nswe re d q ue stio n 

skip p e d q ue stio n 

18 1 

219 33 

1 1 



What kind of data are collected? 



Kind of data collected: All vs Treat NMD 

ALL re g istrie s 



Re sp o nse 

Pe rce nt 

Re sp o nse 

Co unt 

Re sp o nse 

Pe rce nt 

Re sp o nse 

Co unt 

Anagraphical data 

32,3% 71 21,2% 7 

Diagnosis 

95,0% 209 93,9% 31 

Anthropometric information 

32,7% 72 24,2% 8 

Socio-demographic information 

48,2% 106 33,3% 11 

Genetic data 

72,3% 159 100,0% 33 

Clinical data 

86,8% 191 100,0% 33 

Medications, devices and health services 

61,4% 135 63,6% 21 

Patient-reported outcomes (e.g. quality of life data, Health 35,5% 78 33,3% 11 

Family history 

55,0% 121 75,8% 25 

Birth and reproductive history 

30,5% 67 33,3% 11 

Clinical research participation and bio-specimen donation 30,5% 67 36,4% 12 

Patient’s preferences for communication 

12,7% 28 27,3% 9 


12 2 


220 33 


0 1 



Data providers 



Data providers: ALL vs Treat NMD 


Re sp o nse 

Pe rce nt 

Clinical units 

Clinical Genetic units 

Laboratories/central services (biochemistry, pathological 

services, genetic, Rx, etc) 

Hospital databases (Discharge registers) 

Patients and families 

Patients’ groups (associations/federations) 

Disability registers 

Mortality registers 

Birth registers 

Centres of expertise 

Other registers 





Re sp o nse 

Co unt 

Re sp o nse 

Pe rce nt 


Re sp o nse 

Co unt 

83,6% 183 69,7% 23 

43,8% 96 69,7% 23 

43,4% 95 39,4% 13 

31,1% 68 33,3% 11 

48,4% 106 69,7% 23 

21,9% 48 39,4% 13 

3,2% 7 0,0% 0 

12,8% 28 0,0% 0 

3,7% 8 0,0% 0 

30,6% 67 21,2% 7 

6,8% 15 0,0% 0 

15 1 

219 33 

1 1 



What kind of disease coding systems are in use? 



Data updated and collection of patient’s death 



Quality dimensions 



Re sp o nse 

Pe rce nt 

Re sp o nse 

Co unt 

Re sp o nse 

Pe rce nt 

Re sp o nse 

Co unt 

A case definition is available for the RD of interest 

Standardised inclusion/exclusion criteria are defined 

T he re g istry ha s b e e n che cke d fo r: 

Reliability 

Agreement 

Internal validity 

87,7% 193 87,9% 29 

78,6% 173 75,8% 25 

48,6% 107 42,4% 14 

46,4% 102 36,4% 12 

58,2% 128 39,4% 13 

Quality tests/surveys are periodically performed 

There are methods to avoid duplication of the 

registered cases 

The registyry has a set of quality indicators 

43,6% 96 36,4% 25 

87,7% 193 78,8% 11 

35,9% 79 30,3% 12 



Reasons for establishment 



Kind of data collected: anonymous, anonymised, identifiable 



Ethical scrutiny in all registries vs Treat NMD 

All re g istrie s 



Resp o nse Resp o nse Resp o nse Resp o nse 

Pe rce nt Co unt Pe rce nt Co unt 

REC approval at the beginning 

63,4% 135 51,5% 17 

REC approval for every new research 9,9% 21 15,2% 5 

Informed consent collected 66,0% 142 84,8% 28 



Approval by an ethics committee (REC) 



Informed consent collected 



Governance 


Main governing board 

Other governing bodies 



Resp o nse 

Pe rce nt 

Resp o nse 

Co unt 

Resp o nse 

Pe rce nt 

Resp o nse 

Co unt 

66,3% 138 60,6% 20 

15,3% 31 15,2% 5 



Participants to the governing board: All vs Treat NMD 



Data access and exchange 



Initial funding: All registries vs Treat NMD 


No specific fund 

Regional Authority 

National Authority 

University/Research Institute 

Hospital 

Patients Association 

Foundation 

Industry/Industrial 

EU Commission/EU Agency 

Information not available 

Other (specify) 





Resp o nse 

Pe rce nt 

Resp o nse 

Co unt 

Resp o nse 

Pe rce nt 

Resp o nse 

Co unt 

22,8% 46 27,3% 9 

13,4% 27 3,0% 1 

27,2% 55 15,2% 5 

17,3% 35 24,2% 8 

9,4% 19 15,2% 5 

17,8% 36 30,3% 10 

10,9% 22 9,1% 3 

12,4% 25 3,0% 1 

16,3% 33 15,2% 5 

3,0% 6 3,0% 1 

14 4 

202 33 

18 1 



Initial and current funding Treat NMD 


No specific funds 

Regional Authority 

National Authority 

University/Research Institute 

Hospital 

Patients Association 

Foundation 

Industry/Industrial 

EU Commission/ EU Agency 

Information not available 


Initia l fund ing 

Curre nt fund ing 

Resp o nse 

Pe rce nt 

Resp o nse 

Co unt 

Resp o nse 

Pe rce nt 

Resp o nse 

Co unt 

27,3% 9 39,4% 13 

3,0% 1 3,0% 1 

15,2% 5 6,1% 2 

24,2% 8 15,2% 5 

15,2% 5 15,2% 5 

30,3% 10 30,3% 10 

9,1% 3 12,1% 4 

3,0% 1 3,0% 1 

15,2% 5 9,1% 3 

3,0% 1 3,0% 1 



4 1 

33 33 

1 1 



General discussion: clusters in the EPIRARE survey 

all/several RDs 

Health service planning 

Social planning 

Population-based 

Disease suveillance 

Epidemiological 

research 

Case-based 

one RD 

Treat NMD 

a group of RDs 

Hospital-based 

History of disease 

Clinical research 

Geno-pheno/Mutation 

Treatment evaluation 

Treatment monitoring 



Treat NMD peculiarities 

• More focused on clinical and genetic research, less focused 

on epidemiology and disease surveillance 

• More often established for the autonomous initiatives of 

clinicians or patients organisations 

• Higher involvement of patients, families and patients 

organisations, also as data providers and as «funders» 

• Higher use of identifiable data, probably to better keep 

direct contacts with patients 

• Higher level of «ethical scrutiny» especially regarding 

informed consent and patient participation in registries 

governing boards 

• Higher level of data exchange with other registries 



Treat NMD strengths 

• Higher involvement of patients, families and patients 

organisations at all levels 

• Higher level of «ethical scrutiny» especially regarding 

informed consent and patient participation in registries 

governing boards 

• Higher level of data exchange with other registries 



Areas of possible improvement 

• Quality control seems to be slightly weaker as compared 

with other EPIRARE registries (especially institutional 

epidemiological registries) 

• Not all registries seem to have adopted the same coding 

system 

• The only stable funding source is “Patient’s associations”, 

underlining the need of reflection on financial 

sustainability 



Plans for the future (RD connect) 

• Increase confrontation and exchange with other 

registries and with biobanks 

• Create an online searchable catalogue of 

databases/registries 

• Report on common data elements and standardised 

coding systems 

• Report on global unique patient identifier 

• Report on sustainability options for databases/registries 

• Report of interoperability measures 



Plans for the future (RD connect) 

• Prepare SOPs for collecting, storing and retrieving data 

• Prepare SOPs for “undiagnosed” RD cases and a regsitry 

for capturing clinical data on patients without a genetic 

diagnosis 

• Prepare training material and registry toolkit 



Thanks for your attention 

www.epirare.eu

EPIRARE_Results_Domenica Taruscio.pdf - Treat-NMD

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