TY - RPRT T1 - Annual report Belgian Cystic Fibrosis Registry 2016 Y1 - 2018 A1 - Simeon Wanyama A1 - Muriel Thomas KW - Belgian cystic fibrosis registry KW - Belgium KW - Cystic Fibrosis AB -

This report presents the data collected in 2016. It is our hope that the analysis of the registry data will provide readers with information on various aspects of CF and continue to provide an important tool for monitoring the patient’s quality of care and trends. In this edition, a brief analysis of anthropometry, spirometry, common complications and therapy in transplant patients has been added.

Since its establishment in 1998, the Belgium CF Registry (BCFR) has grown steadily and had 1275 patients registered in 2016. This number excludes five patients whose diagnosis for CF was revoked and fifteen without a confirmed diagnosis. There were 23 newly diagnosed patients in 2016, among them three adults, with a median age at diagnosis of 3.8 months with a range from birth to 52.3 years. All the newly diagnosed patients were genotyped; while 22 had sweat chloride values > 60 mmol/L.

Among the patients in follow-up in 2016, 52.0% were male and 61.2% adults with a median age of 22.5 years. This can be compared to the start of the registry 17 years ago when 39.0% were adults with a median age of 14.9 years. 46.7% of the patients are homozygous for the F508del mutation while 37.0% are F508del heterozygous. The main reasons for diagnosis of CF are acute or recurrent respiratory problems (42.1%) and failure to thrive (24.4%). About 18.0% were diagnosed via neonatal screening even though Belgium has no national neonatal screening program so far. Within the year, eight deaths were reported (four of them in transplanted patients) with age at death ranging from 20.5 to 44.8 years while 17 patients benefitted from a lung transplant. About 14.0% of the patients in the registry are living with a transplant.

Among the adults, the proportion of patients with BMI < 18.0 kg/m² continues to decline from about 36.3% in 1998 to 17.4% in 2010 and 11.7% in 2016; this decline was noted also amongst the F508del homozygous patients. Amongst the patients up to 20 years, the proportion with BMI below the tenth percentile has also been declining over the years. The above suggests better nutritional management in the patients. The patient population continues to record an improvement in lung function expressed as the mean percentage of predicted FEV1. Among the F508del homozygous patients, 38.0% of the children and 5.1% of the adults had FEV1 ≥ 90.0% of predicted in 1998 compared to 52.9% and 7.0% in 2010 and 53.7% and 13.6% respectively among the children and adults in 2016.

The overall annual prevalence of Pseudomonas aeruginosa reported in 2016 was 37.5% and has been declining compared to a prevalence of 42.4% in 2012. This prevalence has been below 40.0% since 2015. The prevalence of the Burkholderia cepacia complex on the other hand had remained stable over the years since 2014 at about 3.5% There has also been a steady 14 Summ ar y increase in the prevalence of Achromobacter xylosoxidans from 5.9% in 2009 stabilizing at prevalence levels above 10.0% since 2012.

Thanks to improved disease management practises and novel treatments, the life expectancy and the quality of life of patients with CF has improved significantly when compared to CF cohorts a decade or two ago. The proportion of adult CF patients aged 18 years and above increases each year. But this progress is also accompanied by different challenges, expectations and disease related complications. In 2016, CF related diabetes had a prevalence of 24.5% and 53.1% in non- transplanted and transplanted adults respectively. Other complications reported include early osteoporosis and CF related arthritis/arthropathy. These require specialized care for the adult CF patient.

ER - TY - Generic T1 - The Belgian Cystic Fibrosis Registry - Facts and highlights 2016 Y1 - 2018 A1 - Simeon Wanyama A1 - Muriel Thomas KW - Cystic Fibrosis KW - highlights ER - TY - Generic T1 - Belgisch mucoviscidose register - Feiten en cijfers 2016 Y1 - 2018 A1 - Simeon Wanyama A1 - Muriel Thomas ER - TY - JOUR T1 - The effect of enteral tube feeding in cystic fibrosis: A registry based study. JF - J Cyst Fibros Y1 - 2018 A1 - Denis Libeert A1 - Dimitri Declercq A1 - Simeon Wanyama A1 - Muriel Thomas A1 - Sabine Van Daele A1 - Frans De Baets A1 - Stephanie Van Biervliet KW - Cystic Fibrosis KW - Gastrostomy KW - Malnutrition KW - Pulmonary function KW - Tube feeding AB -

BACKGROUND: Long-term effect of enteral tube feeding (ETF) in cystic fibrosis (CF) remains equivocal.

METHODS: A Belgian CF registry based, retrospective, longitudinal study, evaluated the pre- and post- ETF (n = 113) clinical evolution and compared each patient with 2 age, gender, pancreatic status and genotype class-matched controls.

RESULTS: At baseline ETF had a worse BMI z-score (p < 0.0001) and FEV1% (p < 0.0001) compared to controls. Patients eventually receiving ETF, had already a significant worse nutritional status and pulmonary function at first entry in the registry. Both parameters displayed a significant decline before ETF-introduction. ETF had more hospitalization and intravenous antibiotic (IVAB) treatment days (p < 0.0001). After ETF introduction hospitalizations and IVAB decreased significantly. After ETF-introduction BMI z-score recuperated towards the original curve before the decline, but remained below the controls. Starting ETF had no effect on rate of height gain in children. The pre-index FEV1 decline (-1.52%/year (p = 0.002)) stabilized to +0.39%/year afterwards. Controls displayed decline of -0.48%/year (p < 0.0001).

CONCLUSION: ETF introduction improved BMI z-score and stabilized FEV1, associated with less hospitalizations and IVAB treatments. Higher mortality and transplantation in the ETF cases, leading to drop-outs, made determination of the effect size difficult.

VL - 17 CP - 2 M3 - 10.1016/j.jcf.2018.01.004 ER - TY - Generic T1 - EPS5.06 Demography and clinical outcomes in cystic fibrosis lung transplant recipients in Belgium Y1 - 2018 A1 - Muriel Thomas A1 - Simeon Wanyama A1 - L Dupont A1 - I. Etienne A1 - P. Evrard A1 - B. Rondelet A1 - Y. Sokolow A1 - D. Van Raemdonck KW - Belgium KW - Cystic Fibrosis KW - lung transplant JF - Journal of Cystic Fibrosis VL - 17 M3 - 10.1016/S1569-1993(18)30266-2 ER - TY - Generic T1 - Le registre belge de la mucoviscidose - Faits et chiffres 2016 Y1 - 2018 A1 - Simeon Wanyama A1 - Muriel Thomas ER - TY - JOUR T1 - Risk factors and impact of allergic bronchopulmonary aspergillosis in Pseudomonas aeruginosa-negative CF patients. JF - Pediatr Allergy Immunol Y1 - 2018 A1 - Frans De Baets A1 - Linde De Keyzer A1 - Sabine Van Daele A1 - Petra Schelstraete A1 - Stephanie Van Biervliet A1 - Eva Van Braeckel A1 - Muriel Thomas A1 - Simeon Wanyama KW - allergic bronchopulmonary aspergillosis KW - Aspergillus colonization KW - Aspergillus fumigatus KW - Aspergillus sensitization KW - Cystic Fibrosis AB -

BACKGROUND: Allergic bronchopulmonary aspergillosis (ABPA) is a major complication in cystic fibrosis (CF) patients. Risk factors for ABPA and clinical deterioration in CF patients, negative for Pseudomonas aeruginosa (Pa), were explored.

METHODS: We performed a retrospective case-control study in 73 Pa-negative patients. Each patient was matched with 2 controls for age, gender, pancreas sufficiency, DeltaF508 mutation (homozygous or heterozygous), and Pa colonization.

RESULTS: Median FEV at the year of diagnosis (index year) was significantly lower in patients with ABPA. The median of cumulative values of FEV and FVC before the index year was not significantly different. After the index year, the median of cumulative data for FEV and FVC was significantly lower; there were significantly more hospitalization days and more IV antibiotic days compared to controls. Comparing pre- and post-index year data in patients with ABPA, significantly more hospitalization days and more IV antibiotic days were observed after the index year. During the period preceding the index year, significantly more ABPA patients were treated with rhDNase and inhaled corticosteroids.

CONCLUSIONS: Bronchial damage cannot be considered as a facilitating factor for ABPA. ABPA causes a significant increase in bronchial damage. In patients with ABPA, further bronchial damage can be controlled by an increase in hospitalization days and use of IV antibiotics. rhDNase and inhaled corticosteroids were associated with the development of ABPA.

M3 - 10.1111/pai.12953 ER - TY - RPRT T1 - Annual report Belgian Cystic Fibrosis Registry 2014 Y1 - 2017 A1 - Simeon Wanyama A1 - Muriel Thomas A1 - Malfroot, Anne ER - TY - RPRT T1 - Annual report Belgian Cystic Fibrosis Registry 2015 Y1 - 2017 A1 - Simeon Wanyama A1 - Muriel Thomas A1 - Malfroot, Anne ER - TY - JOUR T1 - Does newborn screening influence the young cystic fibrosis cohort included in national registries? JF - Eur Respir J Y1 - 2017 A1 - De Boeck, Kris A1 - Munck, Anne A1 - de Monestrol, Isabelle A1 - Gulmans, Vincent A1 - Lemonnier, Lydie A1 - Middleton, Peter G A1 - Simeon Wanyama A1 - Muriel Thomas VL - 49 CP - 1 U1 - http://www.ncbi.nlm.nih.gov/pubmed/28077474?dopt=Abstract M3 - 10.1183/13993003.00686-2016 ER - TY - JOUR T1 - Effect of allergic bronchopulmonary aspergillosis on FEV1 in children and adolescents with cystic fibrosis: a European Cystic Fibrosis Society Patient Registry analysis. JF - Arch Dis Child Y1 - 2017 A1 - Kaditis, Athanasios G A1 - Miligkos, Michael A1 - Bossi, Anna A1 - Colombo, Carla A1 - Hatziagorou, Elpis A1 - Kashirskaya, Nataliya A1 - de Monestrol, Isabelle A1 - Muriel Thomas A1 - Mei-Zahav, Meir A1 - Chrousos, George A1 - Zolin, Anna KW - ADOLESCENT KW - Age Distribution KW - Aspergillosis, Allergic Bronchopulmonary KW - Body Mass Index KW - Child KW - Cystic Fibrosis KW - Female KW - Forced Expiratory Volume KW - Humans KW - Longitudinal Studies KW - Male KW - REGISTRIES KW - Sex Distribution AB -

OBJECTIVE: To evaluate the effect of allergic bronchopulmonary aspergillosis (ABPA) on FEV1 percent predicted in children and adolescents with cystic fibrosis.

DESIGN: Longitudinal data analysis (2008-2010).

SETTING: Patients participating in the European Cystic Fibrosis Society Patient Registry.

PARTICIPANTS: 3350 patients aged 6-17 years.

MAIN OUTCOME MEASURE: FEV1 percent predicted was the main outcome measure (one measurement per year per child). To describe the effect of ABPA (main explanatory variable) on FEV1 while controlling for other prognostic factors, a linear mixed effects regression model was applied.

RESULTS: In 2008, the mean (±SD) FEV1 percent predicted was 78.6 (±20.6) in patients with ABPA (n=346) and 88 (±19.8) in those without ABPA (n=2806). After considering other variables, FEV1 in subjects with ABPA on entry to the study was 1.47 percentage points lower than FEV1 in patients of similar age without ABPA (p=0.003). There was no FEV1 decline associated with ABPA over the subsequent study years as the interaction of ABPA with age was not significant (p>0.05). For patients aged 11.82 years (population mean age), poor body mass index had the greatest impact on FEV1 in 2008, followed by high-risk genotype (two severe mutations), female gender, diabetes mellitus, chronic Pseudomonas aeruginosa infection and ABPA in descending order of effect size.

CONCLUSIONS: In contrast to the common clinical belief of ABPA having a serious impact on lung function, the difference in FEV1 between young patients with and without the complication was found to be modest when the effect of other prognostic factors was considered.

VL - 102 CP - 8 U1 - http://www.ncbi.nlm.nih.gov/pubmed/28325727?dopt=Abstract M3 - 10.1136/archdischild-2016-311132 ER - TY - JOUR T1 - Ethnicity impacts the cystic fibrosis diagnosis: A note of caution. JF - J Cyst Fibros Y1 - 2017 A1 - Bosch, Barbara A1 - Bilton, Diana A1 - Sosnay, Patrick A1 - Raraigh, Karen S A1 - Mak, Denise Y F A1 - Ishiguro, Hiroshi A1 - Gulmans, Vincent A1 - Muriel Thomas A1 - Cuppens, Harry A1 - Amaral, Margarida A1 - De Boeck, Kris AB -

BACKGROUND: The diagnosis of Cystic Fibrosis (CF) is by consensus based on the same parameters in all patients, yet the influence of ethnicity has only scarcely been studied. We aimed at elucidating the impact of Asian descent on the diagnosis of CF.

METHODS: We performed a retrospective analysis of the CFTR2 and UK CF databases for clinical phenotype, sweat chloride values and CFTR mutations and compared the diagnostic characteristics of Asian to non-Asian patients with CF.

RESULTS: Asian patients with CF do not have a worse clinical phenotype. The repeatedly reported lower FEV1 of Asian patients with CF is attributable to the influence of ethnicity on lung function in general. However, pancreatic sufficiency is more common in Asian patients with CF. The diagnosis of CF in people with Asian ancestry is heterogeneous as mean sweat chloride values are lower (92±26 versus 99±22mmol/L in controls) and 14% have sweat chloride values below 60mmol/L (versus 6% in non-Asians). Also, CFTR mutations differ from those in Caucasians: 55% of British Asian patients with CF do not have one mutation included in the routine newborn screening panel.

CONCLUSIONS: Bringing together the largest cohort of patients with CF and Asian ethnicity, we demonstrate that Asian roots impact on all three CF diagnostic pillars. These findings have implications for clinical practice in the increasingly ethnically diverse Western population.

VL - 16 CP - 4 U1 - http://www.ncbi.nlm.nih.gov/pubmed/28233695?dopt=Abstract M3 - 10.1016/j.jcf.2017.01.016 ER - TY - JOUR T1 - What can the CF registry tell us about rare CFTR-mutations? A Belgian study. JF - Orphanet J Rare Dis Y1 - 2017 A1 - De Wachter, E A1 - Muriel Thomas A1 - Simeon Wanyama A1 - Seneca, S A1 - Malfroot, A AB -

BACKGROUND: CFTR2 provides clinical and functional information of the most common CFTR-mutations. Rare mutations (RMs) occur in only a few patients with limited reported clinical data. Their role in CF-disease liability is hardly documented.

METHODS: Belgian CF-Registry 2013 data were analyzed to identify CF with at least 1 RM (CF+RM). Clinical data and sweat chloride of CF+RM were compared to CF-controls, carrying 2 class 1 to 3 mutations (CFclassic). Disease severity was compared between both groups. To avoid bias in the comparison, transplanted patients were excluded from each group.

RESULTS: Seventy-seven CF+RM were identified (77/1183 = 6.5%). Sixty-four different RM were detected, of which 21 had not been previously reported. All RMs, corresponding to HGVS (Human Genome Variation Society) nomenclature, were listed in supplementary data. Seven transplanted CF+RM were excluded for further analysis. CF+RM had higher age at diagnosis [median (IQR)] [3.7 y (0.3-18.3) vs. 0.3y (0.1-2,0) (p < 0.0001)], lower sweat chloride [96 mmol/L (64-107) vs. 104 mmol/L (97-115) (p < 0.0001)], higher FEV1%pred [77%pred (58-96) vs. 68%pred (48-86) (p = 0.017)], were less frequently pancreatic insufficient [56% vs. 98% (p < 0.0001)], Pseudomonas aeruginosa colonized [24% vs. 44% (p = 0.0093)] and needed fewer IV antibiotics [36% vs. 51% (p = 0.041)] than CFclassic. However, a wide spectrum of disease severity was seen amongst CF+RM.

CONCLUSIONS: CF-patients with a RM cover 6.5% of the Belgian CF-population. Rare mutations can be found in severely ill patients, but more often in late diagnosed, pancreatic sufficient patients.

VL - 12 CP - 1 U1 - http://www.ncbi.nlm.nih.gov/pubmed/28830496?dopt=Abstract M3 - 10.1186/s13023-017-0694-1 ER - TY - RPRT T1 - Annual Report Belgian Cystic Fibrosis Registry 2013. Y1 - 2015 A1 - Simeon Wanyama A1 - Muriel Thomas A1 - Malfroot,A. KW - annual report KW - Belgian KW - Belgium KW - Cystic Fibrosis KW - data KW - Fibrosis KW - REGISTRIES KW - Registry KW - report PB - WIV-ISP CY - Brussels/Belgium SN - D/2015/2505/30 U1 -

1368

ER - TY - RPRT T1 - Jaarlijks Rapport Belgisch Mucoviscidose Register 2013. Y1 - 2015 A1 - Simeon Wanyama A1 - Muriel Thomas A1 - Malfroot,A. KW - Belgium KW - Cystic Fibrosis KW - data KW - de KW - Fibrosis KW - mucoviscidose KW - rapport KW - Register KW - REGISTRIES KW - Registry KW - report AB -

In dit rapport worden de gegevens voorgesteld, verzameld in 2013. We hopen dat dit rapport de lezers zal verder toelichten over de aspecten van mucoviscidose in het algemeen en over de zorg die ter beschikking staat voor de personen met mucoviscidose in België in het bijzonder.

Sinds zijn oprichting is het aantal patiënten in het Belgisch Mucoviscidose Register gestaag gegroeid en in 2013 waren er 1186 patiënten in het BMRRBM geregistreerd. Dit aantal sluit 7 personen uit bij wie de diagnose van mucoviscidose werd weerlegd in 2013 en 7 bij wie de diagnose niet bevestigd was. Er waren 28 nieuw gediagnosticeerde patiënten in 2013, waaronder 2 volwassenen; de mediane leeftijd op het ogenblik van de diagnose voor de nieuw gediagnosticeerde patiënten was 8.2 maanden, met een spreiding van 0.0 – 25.7 jaar. De meeste van de nieuwe patiënten kregen ook een genetisch onderzoek met opsporing van de mutaties.

Onder de patiënten geregistreerd en gevolgd in 2013 behoorden 52.0% tot het mannelijk geslacht en waren 57.0% volwassenen, mediane leeftijd van alle patiënten was 20.7 jaar. Bij de start van het register 15 jaar geleden, waren slechts 39.0% volwassenen en was de mediane leeftijd 14.9 jaar. In 2013, waren 45.4% van de patiënten homozygoot voor de F508del mutatie, terwijl 40.4% heterozygoot waren voor F508del. De belangrijkste aanleidingen voor de diagnose van mucoviscidose bleven acute of recidiverende respiratoire problemen (43.6%) en slechte gewichts- en groeicurven (24.9%). In ongeveer 17.0% werd de diagnose gesteld door neonatale screening zelfs zonder aanwezigheid van een nationaal neonataal screening programma in België. Tijdens het jaar 2013 waren er 5 overlijdens (waarvan 2 bij getransplanteerde patiënten), leeftijd van overlijden varieerde van 17.1 – 30.1 jaar; 5 patiënten ondergingen een longtransplantatie.

Bij de volwassenen, bleef het aandeel patiënten met een BMI < 18.0 kg/m² verder dalen van ongeveer 36.3% in 1998 tot 17.4% in 2010 en 14.3% in 2013; deze daling werd zelfs vastgesteld bij de F508del homozygote patiënten. Ook bij de patiënten onder de leeftijd van 20 jaar, was het aandeel met een BMI onder percentiel 10 blijven dalen over de jaren heen. Deze cijfers illustreren een betere nutritionele aanpak van de patiënten. De patiëntenpopulatie bleef ook een continue verbetering vertonen van de longfunctie parameters, uitgedrukt in het gemiddelde percentage van de voorspelde éénseconde waarde (ESW). Onder de F508del homozygote patiënten, hadden in 1998, 38.0% van de kinderen en 5.1% van de volwassenen, in 2010 respectievelijk 52.9% en 7.0% en in 2013 respectievelijk zelfs 57.4% en 8.7% een ESW ≥ 90.0% van de voorspelde waarde.

De jaarlijkse prevalentie van Pseudomonas aeruginosa gerapporteerd in 2013 was 42.2% en was stabiel vergeleken met de prevalentie van 41.8% gerapporteerd in 2012. De prevalentie van Burkholderia cepacia complex bleef lager dan 3.0% gedurende jaren tot in 2010. In 2011 echter was de prevalentie gestegen tot 3.6%, (statistisch niet significant), en in 2012 en 2013 werd verder een stijgende trend van respectievelijk 4.0% en 4.5% vastgesteld; deze beide cijfers waren wel statistisch significant ten opzichte van de prevalentie van 2.4% in 2010. Er was tevens een toename in de prevalentie van Achromobacter xylosoxidans, een opkomende ziektekiem, van 5.9% in 2009 tot 10.5% in 2013.

Dankzij verbetering van de behandeling zijn de levensverwachting en de levenskwaliteit van de patiënten met mucoviscidose gestegen. Het aandeel patiënten met CF ouder dan 18 jaar neemt elk jaar toe. Maar deze vooruitgang gaat ook gepaard met een toename van complicaties bij volwassenen. CF gerelateerde diabetes had in 2013 een prevalentie van 26.6% bij niet getransplanteerde volwassenen. Andere complicaties waren vroege osteoporose, CF- gerelateerde artritis/artropathie ... Deze evolutie vereist een specifieke zorg voor volwassene patiënten.

PB - WIV-ISP CY - Brussels/Belgium SN - D/2015/2505/32 U1 -

1370

ER - TY - RPRT T1 - Rapport Annuel Registre Belge de la Mucoviscidose 2013. Y1 - 2015 A1 - Simeon Wanyama A1 - Muriel Thomas A1 - Malfroot,A. KW - Belge KW - Belgium KW - Cystic Fibrosis KW - data KW - de KW - Fibrosis KW - mucoviscidose KW - rapport KW - rapport annuel KW - registre KW - REGISTRIES KW - Registry KW - report PB - WIV-ISP CY - Brussels/Belgium SN - D/2015/2505/31 U1 -

1369

ER - TY - JOUR T1 - Treatment burden in patients with at least one class IV or V CFTR mutation JF - Pediatr Pulmonol Y1 - 2015 A1 - Dewulf, Jonas A1 - Vermeulen, François A1 - Simeon Wanyama A1 - Muriel Thomas A1 - Proesmans, Marijke A1 - Dupont, Lieven A1 - De Boeck, Kris KW - ADOLESCENT KW - Ambulatory Care Facilities KW - Anti-Bacterial Agents KW - Child KW - Child, Preschool KW - Cohort Studies KW - Cystic Fibrosis KW - Cystic Fibrosis Transmembrane Conductance Regulator KW - Drug Utilization KW - Female KW - Genotype KW - Hospitalization KW - Humans KW - Infant KW - Infant, Newborn KW - Male KW - Mutation KW - Organ Transplantation KW - REGISTRIES KW - Respiratory Therapy KW - Retrospective Studies KW - Severity of Illness Index KW - Young adult AB -

CFTR mutations are grouped according to disease-causing mechanism. Several studies demonstrated that patients having at least one mutation of class IV/V, present with a milder phenotype, but little is known about their relative treatment burden. We compared treatment burden between patients with two class I, II, or III mutations and patients with at least one mutation of class IV/V in the 2010 database of the Belgian CF Registry. We calculated a "Treatment Burden Index" (TBI) by assigning long term therapies to categories low, medium and high intensity, for differential weighing in the total score. There were 779 patients with two known class I/II/III mutations and 94 patients with at least one class IV/V mutation. Compared to class I/II/III, class IV/V patients had a lower median number of clinic visits (4 vs. 5; P < 0.001), a lower risk of hospitalization (24.7% vs. 50.8%; P < 0.001) and intravenous antibiotic treatment (23.5% vs. 46.0%; P < 0.001) and a lower median TBI (6 vs. 9; P < 0.001). These differences remained significant when only class IV/V patients with pancreatic insufficiency (n = 31) were considered. This study clearly demonstrates the significantly lower treatment burden in patients with CF and at least one class IV/V mutation compared to patients with two class I/II/III mutations and contributes to providing better individual counseling at time of diagnosis.

VL - 50 CP - 12 U1 - http://www.ncbi.nlm.nih.gov/pubmed/26540286?dopt=Abstract M3 - 10.1002/ppul.23313 ER - TY - RPRT T1 - Annual report Belgian Cystic Fibrosis Registry 2012 Y1 - 2014 A1 - Simeon Wanyama A1 - Muriel Thomas ER - TY - RPRT T1 - The Belgian Cystic Fibrosis Registry Summary Report 2011 Y1 - 2014 A1 - Muriel Thomas A1 - Simeon Wanyama A1 - François Vermeulen ER - TY - RPRT T1 - Het Belgisch Mucoviscidose Register Beknopt Verslag 2011 Y1 - 2014 A1 - Muriel Thomas A1 - Simeon Wanyama A1 - François Vermeulen ER - TY - RPRT T1 - Registre Belge de la Mucoviscidose Synthèse du Rapport 2011 Y1 - 2014 A1 - Muriel Thomas A1 - Simeon Wanyama A1 - François Vermeulen ER - TY - JOUR T1 - Is there evidence for correct diagnosis in cystic fibrosis registries? JF - J Cyst Fibros Y1 - 2014 A1 - Muriel Thomas A1 - Lemonnier, Lydie A1 - Gulmans, Vincent A1 - Naehrlich, Lutz A1 - Vermeulen, François A1 - Cuppens, Harry A1 - Castellani, Carlo A1 - Norek, Aleksandra A1 - De Boeck, Kris KW - ADOLESCENT KW - Adult KW - Aged KW - Benchmarking KW - Child KW - Cystic Fibrosis KW - Cystic Fibrosis Transmembrane Conductance Regulator KW - Diagnostic Errors KW - Europe KW - Female KW - Humans KW - Male KW - middle aged KW - REGISTRIES KW - Young adult AB -

BACKGROUND: Cystic fibrosis (CF) spans a wide spectrum. Therefore, benchmarking between registries implies comparing similar cohorts.

OBJECTIVE AND METHODS: Explore patient characteristics in Belgian (B), French (F), German (G) and Dutch (NL) registries (total N=13,122) and determine whether they fulfill predefined diagnostic criteria.

RESULTS: Using as case definition sweat chloride >60mmol/L or 2 CFTR mutations identified, CF diagnosis was not documented in 2.8, 5.7, 6.5 and 21.6% of subjects in the F, B, NL, and G registries. Restricting CFTR mutation interpretation to 124 CF causing mutations in CFTR2, these numbers rose to 10.5, 10.4, 14.5 and 24.3% respectively. Excluding these subjects impacted on outcomes. The impact differed between countries; the largest changes seen were a decrease in % adults from 51.9 to 47.8% in G, a decrease in % pancreas sufficiency from 17.0 to 13.0 in F, an increase in % homozygous for F508del from 55.3 to 63.7 in NL and a decrease of % with sweat chloride ≤60mmol/L from 8.4 to 1.1 in B.

CONCLUSION: CF diagnosis is not documented in 10 to 24% of patients included in CF registries. Excluding these patients for analyses leads to significant changes in outcomes.

VL - 13 CP - 3 U1 - http://www.ncbi.nlm.nih.gov/pubmed/24274930?dopt=Abstract M3 - 10.1016/j.jcf.2013.10.010 ER - TY - RPRT T1 - Annual data report 2011 Cystic Fibrosis, Belgium. Y1 - 2013 A1 - Simeon Wanyama A1 - Muriel Thomas KW - Belgium KW - Cystic Fibrosis KW - data KW - Fibrosis KW - report PB - WIV-ISP CY - Brussels SN - D/2013/2505/43 U1 - 1360 ER - TY - RPRT T1 - The Belgian Cystic Fibrosis Registry Summary Report 2009 Y1 - 2012 A1 - Muriel Thomas A1 - Simeon Wanyama A1 - Herwig Jansens A1 - François Vermeulen ER - TY - RPRT T1 - The Belgian cystic fibrosis registry: summary report 2010 Y1 - 2012 A1 - Muriel Thomas A1 - Simeon Wanyama A1 - Vermeulen,F. ED - Johan Peeters KW - 2010 KW - Belgian KW - Cystic Fibrosis KW - Fibrosis KW - REGISTRIES KW - Registry KW - report KW - summary AB - Not available PB - WIV-ISP CY - Brussels SN - D/2012/2505/45 U1 - 1326 ER - TY - RPRT T1 - The Belgian Cystic Fibrosis Registry Summary Report 2010 Y1 - 2012 A1 - Muriel Thomas A1 - Simeon Wanyama A1 - François Vermeulen ER - TY - RPRT T1 - Het Belgisch Mucoviscidose Register Beknopt Verslag 2010 Y1 - 2012 A1 - Muriel Thomas A1 - Simeon Wanyama A1 - François Vermeulen ER - TY - Generic T1 - Increased proportion of CF patients with normal FEV1 over an 11-years nation-wide study ? Have characteristics changed ? Y1 - 2012 A1 - De Wachter,E. A1 - De Schutter,I. A1 - Muriel Thomas A1 - Simeon Wanyama A1 - Haentjes,P. A1 - Malfroot,A. KW - an KW - conference KW - Cystic Fibrosis KW - European KW - Fibrosis KW - Patient KW - patients KW - study AB -

Not available

JF - European Cystic Fibrosis Conference PB - NA CY - NA CP - ECFS U1 - 1328 U2 - June 2012 ER - TY - Generic T1 - Problématique du dépistage systématique de la mucoviscidose. Données du registre Belge de la Mucoviscidose. Y1 - 2012 A1 - Muriel Thomas A1 - Simeon Wanyama A1 - Jansen,H. A1 - Viviane Van Casteren KW - Belge KW - de KW - mucoviscidose AB -

Not available

JF - Séminaire de concertation "problématique du dépistage néonatal systématique de la mucoviscidose" PB - NA CY - NA CP - Fédération Wallonie-Bruxelles U1 - 35609 U2 - Mars 2012 ER - TY - RPRT T1 - Registre Belge de la Mucoviscidose Synthèse du Rapport 2010 Y1 - 2012 A1 - Muriel Thomas A1 - Simeon Wanyama A1 - François Vermeulen ER - TY - Generic T1 - Who is reported in the Belgian, Dutch and French CF registries. Y1 - 2012 A1 - Muriel Thomas A1 - Castellani,C. A1 - Cuppens,H. A1 - Gulmans,V. A1 - L. Lemmonier A1 - Norek,A. A1 - Vermeulen,F. A1 - De Boeck,K KW - Belgian KW - conference KW - Cystic Fibrosis KW - European KW - Fibrosis KW - IS KW - REGISTRIES KW - Registry KW - WHO AB -

Not available

JF - 35th European Cystic Fibrosis Conference PB - NA CY - NA CP - European Cystic Fibrosis U1 - 35610 U2 - Juin 2012 ER - TY - RPRT T1 - The Belgian Cystic Fibrosis Registry Summary Report 2008 Y1 - 2011 A1 - Muriel Thomas A1 - Simeon Wanyama A1 - Herwig Jansens A1 - François Vermeulen ER - TY - JOUR T1 - Inhaled corticosteroids and lower lung function decline in young children with cystic fibrosis. JF - Eur Respir J Y1 - 2011 A1 - K De Boeck A1 - F Vermeulen A1 - Simeon Wanyama A1 - Muriel Thomas KW - Administration, Inhalation KW - ADOLESCENT KW - Adrenal Cortex Hormones KW - Belgium KW - Child KW - Cystic Fibrosis KW - Female KW - Humans KW - Lung KW - Male KW - Respiratory Function Tests KW - Treatment Outcome KW - Young adult AB -

A recent American registry analysis in cystic fibrosis (CF) children showed less lung function decline after starting inhaled corticosteroid (ICS) use. We therefore examined the influence of ICS treatment on lung function in Belgian CF patients. Data from patients ≥ 6 yrs of age were eligible, provided entries on lung function, height and ICS use were available in two consecutive years. Data after oral steroid use or transplant were excluded. 852 subjects contributed data with 2,976 data pairs analysed, 44.9% concerning years of ICS use. Yearly % predicted decline in forced expiratory volume in 1 s (FEV₁) was 1.07% lower during ICS use (p = 0.001). Subgroup analysis for age revealed that the lower FEV₁ decline rate during ICS use was only statistically significant in children 6-12 yrs of age (2.56%; p = 0.0003). Baseline FEV(1) was lower by 5.89% (p < 0.0001) in ICS users for all age groups combined, but there was no difference in baseline lung function in the children 6-12 yrs of age. In 6-12-yr-old children with CF, baseline lung function was similar in ICS users and nonusers, but annualised FEV₁ decline was 2.56% pred lower in ICS users. Our data therefore support recent American findings.

VL - 37 CP - 5 M3 - 10.1183/09031936.00077210 ER -