Spanish Paediatric Interstitial Lung Diseases Registry
Spanish Rare Diseases Registries Research Network (SpainRDR)
Antonio Moreno GaldóUnidad de Neumología Pediátrica y Fibrosis quísticaHospital Universitari Vall d’HebronBarcelona, Spain
Acknowledgments
• Collaboration and financial support of the Research Integrated Project in Diffuse Interstitial Lung Diseases (PII-EPID) of the Spanish Society of Pulmonology and Thoracic Surgery (SEPAR) (www.separ.es)
• The Little Lungs Foundation (http://www.pequenospulmones.org)
• Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III(https://spainrdr.isciii.es)
• Dr. Robin Deterding. USA chILD registry
• Introduction The Spanish Society of Paediatric Pulmonology
• Justification Why a registry about Paediatric interstitial lung diseases?
• Which type of diseases are included?
• Current Developments
• Future projects – National and International collaborations
Summary
• Founded in 1977• Members number: 250• Paediatric Pulmonologists, Paediatricians and nurses (associated members)
with interest in Paediatric Pulmonology Aims• To spread knowledge about children respiratory health among
Paediatricians, Health providers and general population• To promote research in Paediatric Pulmonology• To collaborate with the Spanish Paediatric Association in aspects related to
children lung diseases• To collaborate with other national and international associations interested
in children respiratory health• To collaborate in the design of training programs in Paediatric Pulmonology
for training Paediatricians
Spanish Society of Paediatric Pulmonology
Why a Registry about Paediatric Interstitial Lung Diseases?
• Adult ILD: 30% chronic pulmonary diseases• Children: represent very rare diseases
Clement A. Task force on chronic interstitial lung disease in immunocompetent children. Eur Respir J 2004; 24:686-697.
Onset year
European Survey 1997 – 2002
185 cases1/3 < 2 years
• Neonates (> 36 weeks of gestation) to children less than 17 years of age
• Survey was performed with the help of the German Surveillance Unit for Rare Paediatric Disorders
• Monthly postcards or e-mails to all paediatric hospitals. Overall return rate was 97%
M. Griese, et al. Orphanet Journal of Rare Diseases 2009, 4:26
N= 38 cases 2005-2006
The incidence of DPLD was 1.32 new cases per 1 million of children per yearThe incidence of DPLD was 1.32 new cases per 1 million of children per year
Why a Registry about Paediatric Interstitial Lung Diseases?
• Paediatric interstitial lung disease (ILD) is rare and diverse, meaning no single centre will see sufficient children to perform the studies needed to make progress
• Recent description of interstitial Recent description of interstitial disorders typical or more prevalent in infancy and different of those seen in adult patients
• Cellular interstitial pneumonitis Schroeder 1992
• Chronic pneumonitis of infancy Katzenstein 1995
• Surfactant protein B mutations Nogee 1993
• Surfactant protein C mutations Nogee 2001
• ABCA-3 mutations Shulenin 2004
• Pulmonary interstitial glycogenosis Canakis 2002
• Neuroendocrine cell hyperplasia of infancy Deterding 2005
Why a Registry about Paediatric Interstitial Lung Diseases?
• To establish the prevalence and incidence of Paediatric Interstitial Lung Diseasesin Spain
• To improve the knowledge about the natural history and prognosis of these diseases
• To establish common protocols for diagnosis and management of these rare To establish common protocols for diagnosis and management of these rare diseases diseases
• To validate properly the diagnosis of casesTo validate properly the diagnosis of cases
• To establish collaboration with international projects To establish collaboration with international projects
• To establish a Biobank ¿? for future studiesTo establish a Biobank ¿? for future studies
Aims
Which type of diseases are included?
• Interstitial lung diseases
• Heterogenous group of diseases (> 150), with low incidence
• Inflammation of lung interstitium (alveolar septa and perialveolar tissues)
Diffuse developmental disordersAcinar dysplasiaCongenital alveolar dysplasiaAlveolar capillary dysplasia with misalignment of pulmonary veins
Growth abnormalities reflecting deficient alveolarizationPulmonary hypoplasiaChronic neonatal lung disease (prematurity)Related to chromosomal disordersRelated to congenital heart disease
Children’s Interstitial Lung Disease (chILD) Network Classificationof Diffuse Lung Disease in Children
Disorders more prevalent in infancy (1)
Specific conditions of uncertain aetiologyNeuroendocrine cell hyperplasia of infancyPulmonary interstitial glycogenosis
Surfactant dysfunction disordersSurfactant protein B (SFTPB) mutationsSurfactant protein C (SFTPC) mutationsABCA3 mutationsCongenital GMCSF receptor deficiencyTITF-1 (NKX2-1) mutations
Histology consistent with Surfactant dysfunction disorders without known genetic aetiology Pulmonary alveolar proteinosis Chronic pneumonitis of infancy Desquamative interstitial pneumonia Non-specific interstitial pneumonia
Children’s Interstitial Lung Disease (chILD) Network Classificationof Diffuse Lung Disease in Children
Disorders more prevalent in infancy (2)
Disorders related to systemic disease processesImmune-mediated/collagen vascular disordersStorage diseaseSarcoidosisLangerhans cell histiocytosis
Disorders of the normal host (non-immunocompromised)Related to environmental agentsHypersensitivity pneumonitis; Toxic inhalationAspiration syndromesEosinophilic pneumonia
Disorders of the immunocompromised hostRelated to therapeutic interventionDiffuse alveolar damage, unknown aetiology
Disorders masquerading as interstitial lung diseaseLymphatic disorders
Children’s Interstitial Lung Disease (chILD) Network Classificationof Diffuse Lung Disease in Children
Term newbornNeonatal respiratory distressMechanical ventilation 8 days
TachypnoeaPersistent hypoxemia 6 months
Treatment with monthly high dose steroidsO2 was retired at age 10 months
PAS-D
Pulmonary interstitial glycogenosis
Lung transplant at age 5 monthsGood evolution 10 y post lung Tx
Full term newbornRespiratory distress begining at 6 daysMechanical ventilation
Chronic pneumonitis of infancy
Current development
• May 2012: Signed agreement between the Research Insitute Carlos III – Institute of Rare Diseases Research (IIER) and the Spanish Society
of Paediatric Pulmonology
• September – December 2012:Design of the database
• January 2013 – March 2013:Software Development
Registry coordinatorAntonio Moreno. Hospital Vall d’Hebron
Advisory committeeAmparo Escribano. Hospital Clínic, Valencia María Isabel Barrio. Hospital La Paz, MadridJavier Korta. Hospital Donostia, San Sebastián Borja Osona, Hospital Son Espases, Mallorca
Current development
• General information (demographics)
• Diagnostic evaluation (Pulmonary function, chest X ray, CT scan, bronchoalveolar lavage, lung biopsy, genetics)
• Clinical data (clinical presentation, comorbidities, treatment)
• Diagnostic classification
• Follow up
Database structure
Inclusion of retrospective and prospective cases
Current development
General information (demographics)
Current development
Diagnostic evaluation
Current development
Diagnostic classification and Follow-up
Future projects – National collaborations
SPANISH EPID-chILD Group
Group driven by Dr. Julio Ancoechea (PII-EPID Director): Workgroup formed in the Integrated Research Program in Interstitial and Diffuse Lung diseases (PII-EPID) of SEPAR
Coordinators:- Amparo Escribano Montaner (Hospital Clinico Universitario de Valencia)- Antonio Moreno Galdo (Hospital Universitari Vall d'Hebron in Barcelona)-Members: 18 pediatric pulmonologists, 2 Pulmonologists adults, 3 pathologists, 1 Pediatric radiologist, 1 molecular biologist
Goals:- Encourage and promote clinical and basic research in the EPID- Creation of a Spanish Register for EPID-chILD cases.- Promote the participation of researchers and groups in national and international multicentre studies.- Stimulate interest in research into childhood ILD, within SEPAR.- Additional training / development of researchers in ILD in childhood.- Active participation in the development of guides, reports, papers, etc.
Bush A, …. Griese M on behalf of the ch-ILD EU collaboration; Research in progress: put the orphanage out of business. Thorax doi:10.1136/thoraxjnl-2012-203201
• This EU FP-7 grant will standardise the evaluation of these rare conditions by establishing pan-European multidisciplinary expert panels and establish consensus on treatment protocols and standard operating procedures across Europe
• We will work with patient groups to determine optimal treatment end-points and biomarkers.
• A biobank will be established as a Europe-wide resource for mechanistic studies
• Ultimately we aim to do the first randomised controlled trial of a pharmacological treatment in paediatric ILD.
ch-ILD EU collaboration
Future projects - International collaborations
We are not partners of the FP-7 grantInvitation to collaborate
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