Neuromuscular Diseases Databases: A Collaborative CIBERNED Project PI : Dra. Isabel Illa Sendra Neuromuscular Diseases Unit Neurology Service Hospital

Neuromuscular Diseases Databases: A Collaborative

CIBERNED Project

PI : Dra. Isabel Illa Sendra

Neuromuscular Diseases Unit

Neurology Service

Hospital de la Santa Creu i Sant Pau

Universitat Autònoma de Barcelona

SPAIN RDR MARCH 4TH 2013

3 MAIN PROGRAMMS3 MAIN PROGRAMMS

56 scientific groups.

• ALZHEIMER disease and other dementia.• PARKINSON disease and related disorders• NEUROMUSCULAR DISEASES.

• July 2010 : Financial support (Database manager, webmaster,…)

6 CIBERNED GROUPS1 CIBERER GROUP14 ASSOCIATED GROUPS--------21 centres ( 2 neuro pediatric groups)

RESEARCHERS: 60-70

Name HospitalAndreu, Antonio Hospital de la Vall d’HebrónBerciano, José Hospital Marqués de ValdecillaCamacho, Ana Hospital 12 de OctubreCasasnovas, Carlos Hospital de BellvitgeColl, Jaume Hospital Germans Trias i PujolDíaz, Jordi Hospital de la Santa Creu i Sant PauDomínguez, Cristina Hospital 12 de OctubreEsteban, Jesus Hospital 12 de OctubreGallardo, Eduard Hospital de la Santa Creu i Sant PauGallardo, Elena Hospital Marqués de ValdecillaGuerrero Sola, Antonio Hospital Clínico de MadridGutiérrez, Gerardo Hospital Infanta SofiaIlla, Isabel Hospital de la Santa Creu i Sant PauInfante, Jon Hospital Marqués de ValdecillaJericó, Ivonne Complejo Hospitalario NavarraLópez de Munain, Adolfo Hospital de DonostiaMárquez, Celedonio Hospital Virgen del RocíoMunell, Francina Hospital de la Vall d’HebrónMuñoz Blanco, José Luis Hospital Gregorio MarañónNavarro, Carmen Hospital Meixoeiro de VigoOlivé, Montserrat Hospital de BellvitgeParadas, Carmen/Rafael Fdez. Chacón Hospital Virgen del RocíoPardo, Julio Hospital de SantiagoRojas, Ricard Hospital de la Santa Creu i Sant PauSevilla, Teresa Hospital La FeVílchez, Juan Jesús Hospital La Fe

HYPOTHESIS HYPOTHESIS

A base containing clinical, diagnostic test ( genetic, immune, MRI,…), therapy, follow-up and biological sample storage data would allow us to:

To know, in Spain, which are the most frequent neuromuscular diseases ( guidelines,…).

To have better clinical coordination.

To have a necessary tool for research ( basic research, traslational, clinical trials,….).

A.LOPEZ MUNAIN

HD

J.BERCIANOA. LARA PELAYO

HV

J.PARDOHS

C. NAVARRO

HMV

JL. MUÑOZ BLANCO

HGM

A. GUERRERO

HCM

C. PARADASHVR

JJ.VILCHEZ

T.SEVILLAHLF

J..COLLHGT

M. OLIVEHB

A. ANDREU

F. MUNELLHVH

I ILLAHSCSP

INTRANETINTRANETBASE DATOSBASE DATOS

C.MÁRQUEZHVR

J.ESTEBANC. DOMINGUEZA. CAMACHO

H12O

C.CASASNOVAS

HB

DISTROFINOPATIAS/ SARCOGLICANOPATIAS

ELABIOMARCADORES Y

PATOLOGIA

IMMUNOMEDIADA

ELAENSAYOS CLINICOS Y

PATOLOGIA IMMUNOMEDIADA

DISTROFIA OCULO-FARINGEA Y

DISTROFIA CINTURAS

NEUROPATIA HEREDITARIA AXONAL Y

HIPERCKEMIA

MIOPATIA PACIENTE CRÍTICO

MIOPATIA MIOFIBRILAR

PATOLOGIA METABÓLICA Y MITOCONDRIAL

NEUROPEDRIATIADISFERLINOPATIA Y


CALPAINOPATIAFSH

NEUROPATIA HEREDITARIA

DESMIELINIZANTE

NEUROPATIAADQUIRIDA

AXONAL

DISTROFIA OCULOFARÍNGEA

CMT . NEUROPATIA DEL ENFERMO CRITICO Y

DISINMUNES

ELA:GENÉTICAM. MITOCONDRIALES

NEUROPEDIATRIA

CMT. MIASTENIA GRAVIS. NEUROPATIA DISINMUNE

L.BATALLERHLF

MiIASTENIA GRAVIS. NEUROPATÍAS DISINMUNES

L.GALANHCM

DISTROFIAS: LGMD

I. JERICOHCN

MIASTENIA GRAVIS.MIOPATIAS

G. GUTIERREZHIS

MIASTENIA GRAVIS. MIOPATIAS

OBJETIVE IOBJETIVE I

• Design and maintenance of a Spanish database of patients with neuromuscular diseases.

• Homework• Meetings to define the items to be included in each database.

OBJETIVE II OBJETIVE II

Registry of patients with NMD • Done by doctors.

Health and clinical interest: • To develop guidelines using clinical, neuroimaging and laboratory data, obtained from

the databases. (CH-M-T, Myasthenia,…). Clinical trials.

Traslational research • To investigate new genes, new biomarkers or MRI patterns,….. ( ALS cr 9)

Basic research : • By exchanging biological material between groups we will be able to achieve

important goals ( sera before and after treatment in MG, muscle samples for culture in m. dystrophies,…)

LEGAL ASPECTSLEGAL ASPECTS

• The project has the acceptance of the Ethical Committee of all the participating hospitals.

• We give all the patients a Patient Information Sheet and a Consent Form that must be sing . (both accepted for the Ethical Committee of each centre)• Any personal data collected in this study is confidential. The information will be available only for researchers and doctors from the hospitals. Encoded ID•The management of the data follows strictly the Spanish laws regarding confidentiality and patients rights. (“Ley Orgánica de protección de datos 15/1999 (LODP)” y los derechos ARCOS del paciente)

XXXXXXXXXXXXX

• Server, IBM Intel Quad Core 4 cores with two hard drives of 500 Mb STA RAID1 under Linux operating system .

• The information collect in the databases are stored in 188 data tables, the number of fields created is approximately of 5000. The databases are MySQL databases 5.0.77

WEBMASTER/TECHNICALWEBMASTER/TECHNICAL

WEBMASTER /TECHNICALWEBMASTER /TECHNICAL

• Over 1000 pages that are in the server has been created for the introduction of the cases, the access to these pages is protected by a password. Only the doctor who has introduced a patient has the privilege to change or delete information.

• The programming of forms and pages that interact with the server has been made with php5 language.

• The scientific management of the project has direct access to the tables using Microsoft Office Access or Microsoft Office Excel to MySQL ODBC drivers appropriate.

8 BASES OPERATIVAS 8 BASES OPERATIVAS 3 EN FASE DE ELABORACIÓN3 EN FASE DE ELABORACIÓN

> 3400 PACIENTES> 3400 PACIENTES

DATABASESDATABASES

MIASTENIA

MYASTHENIA GRAVIS DATABASEMYASTHENIA GRAVIS DATABASE

• Data base with 172 items collecting demographic data, clinical data, immunology data, follow up registries and therapeutic aspects. We check for tissue and serum availability.• Introduced patients: 896

•DATABASE CURATOR

CH-M-T

HEREDITARY NEUROPATHIES DATABASEHEREDITARY NEUROPATHIES DATABASE

• Database with 11 section and 170 items where we collect information about: patient’s family history, general aspect of the disease, symptoms, nerve pathology, imaging studies, genetics, follow-up entries and EMG • Introduced patients: 760

•DATABASE CURATOR

•DATABASE – IRDIRC PROJECT-DR PALAU CIBERER

E.L.A

ALS DATABASEALS DATABASE

• Collect demographic data, clinical data and disease progression data. • Introduced patients: 320+600 (patients from Madrid database).

•DATABASE CURATOR

MUSCULAR DYSTROPHIES MUSCULAR DYSTROPHIES DATABASEDATABASE

• This database includes: Muscular dystrophies, myotonic dystrophies, congenital myopathies, inflammatory myopathies and metabolic myopathies.

• It includes 19 sections with 540 items, where we collect clinical data, gene mutation data, pathologic data from muscle biopsies, imaging data, …..•Patients introduced: 711

•DATABASE CURATOR

INFLAMMATORY NEUROPATHIES INFLAMMATORY NEUROPATHIES DATABASE (CIDP)DATABASE (CIDP)

• It includes demographic data, clinical data, therapeutic data, EMG tests, follow-up. It is formed by 155 items.• Patients introduced: 128

•DATABASE CURATOR

DATABASES UNDER DEVELOPMENT

• POMPE disease database• Myopathies in the critical ill patient database. • HiperCKemia database.

CURRENT PROJECTS IN DEVELOPMENTClinical characterization of the autosomal recessive forms of oculopharyngeal dystrophy.Clinical, electrodiagnostic and genetic characterization of Charcot-Marie-Tooth disease in the Galician population.Amyotrophic of the lower limb in Charcot-Marie-Tooth disease type IA: longitudinal study, clinical, neurophysiologic and magnetic resonance.Clinical trials and demography in ELAMG. Favourable prognostic indicators of the disease.Implications of SNP variants in the pathophysiology, prognosis and treatment of patients with myasthenia gravis. Identifying patients with LGMD and distal myophaties. Molecular studies.Dystrophinopathies/ Sarcoglicanopathies.Myotonic Dystrophies DM I/ DM II.

DysferlinopathyBiomarkers in seronegative MG.NDICIA project.MG: response to treatmentDevelopment of a database: myopathies in critical ill patients. (Programming Phase)Translational Research, Experimental Medicine And Therapeutics on Charcot-Marie-Tooth Disease (TREAT-CMT). DR PALAU CIBERER- BASE DE DATOS CIBERNED

CURRENT PROJECTS IN DEVELOPMENT

A.LOPEZMUNAIN

HD


HV

J.PARDOHS

C. NAVARRO

HMV

JL. MUÑOZ BLANCO

HGMA.

GUERREROHCM

C. PARADASHVR

JJ.VILCHEZ

T.SEVILLAHLF

J..COLLHGT

M. OLIVEHB

A. ANDREU

C. DOMINGUEZHVH

I ILLAR.ROJASHSCSP

INTRANETBASE DATOS

C.MÁRQUEZHVR

J.ESTEBANH12O

C.CASASNOVAS

HB


ELABIOMARCADORES Y

PATOLOGIA

IMMUNOMEDIADA




HIPERCKEMIA




DISFERLINOPATIA YPATOLOGIA IMMUNOMEDIADA

CALPAINOPATIAFSH

NEUROPATIAADQUIRIDA

AXONAL


CMT neuropatías del enfermo crítico y

disinmunes

ELA:GENÉTICA

CMT. Miastenia Gravis y neuropatía disinmune


DISTROFIA CINTURAS

L.BATALLERHLF


L.GALANHCM

DISTROFIAS: LGMD


DESMIELINIZANTE

PROGRAMA 1CIBERNED

CIBERER

A.LOPEZMUNAIN

HDJ.BERCIANOA. LARA PELAYO

HV

J.PARDOHS

C. NAVARRO

HMV

JL. MUÑOZ BLANCO

HGMA.

GUERREROHCM

C. PARADASHVR

JJ.VILCHEZ

T.SEVILLAHLF

J..COLLHGT

M. OLIVEHB

A. ANDREU

C. DOMINGUEZHVH

I ILLAHSCSP

INTRANETBASE DATOS

C.MÁRQUEZHVR

J.ESTEBANH12O

C.CASASNOVAS

HB


ELABIOMARCADORES Y

PATOLOGIA

IMMUNOMEDIADA




HIPERCKEMIA




DISFERLINOPATIA YPATOLOGIA IMMUNOMEDIADA

NEUROPATIAADQUIRIDA

AXONAL


CMT neuropatías del enfermo crítico y

disinmunes

ELA:GENÉTICA

CMT. Miastenia Gravis y neuropatía disinmune


DISTROFIA CINTURAS

L.BATALLERHLF


L.GALANHCM

DISTROFIAS: LGMD

A.LOPEZ MUNAIN

HD


HV

J.PARDOHS

C. NAVARRO

HMV

JL. MUÑOZ BLANCO

HGM

A. GUERRERO

HCM

C. PARADASHVR

JJ.VILCHEZ

T.SEVILLAHLF

J..COLLHGT

M. OLIVEHB

A. ANDREU

F. MUNELLHVH

I ILLAHSCSP

INTRANETINTRANETBASE DATOSBASE DATOS

C.MÁRQUEZHVR

J.ESTEBANC. DOMINGUEZA. CAMACHO

H12O

C.CASASNOVAS

HB


NEUROPEDRIATIA


ELABIOMARCADORES Y

PATOLOGIA

IMMUNOMEDIADA




DISTROFIA CINTURAS

NEUROPATIA HEREDITARIA AXONAL

YHIPERCKEMIA



CALPAINOPATIAFSH


DESMIELINIZANTE

NEUROPATIAADQUIRIDA

AXONAL


CMT . NEUROPATIA DEL ENFERMO

CRITICO Y DISINMUNES

ELA:GENÉTICAM. MITOCONDRIALES

NEUROPEDIATRIA

CMT. MIASTENIA GRAVIS. NEUROPATIA DISINMUNE

L.BATALLERHLF


L.GALANHCM

DISTROFIAS: LGMD

I. JERICOHCN

MIASTENIA GRAVIS.MIOPATIAS

G. GUTIERREZHIS

MIASTENIA GRAVIS. MIOPATIAS

Summary of two years

• We have developed 8 databases.

• 3463 patients have been introduced.

• A guideline on hereditary neuropathy has been created.

• A genetic study on >900 ELA samples has been published.

• A Myasthenia Gravis study is being produced (onset of the disease 65% >65y).

• Different basic research studies were designed.

TO SHARE THE CIBERNED DATABASE:SPAIN RDR / IRDIRC /EPIRARE-RD-CONNECT/INTERNATIONAL COLLABORATIONS.

TO ENSURE ITS CONTINUITY

FUTURE

Documents

Neuromuscular Diseases Databases: A Collaborative CIBERNED Project PI : Dra. Isabel Illa Sendra Neuromuscular Diseases Unit Neurology Service Hospital