Patients with cystic fibrosis having a residual function mutation: Data from the Italian registry

2018 ◽  
Vol 54 (2) ◽  
pp. 150-157 ◽  
Author(s):  
Donatello Salvatore ◽  
Rita Padoan ◽  
Roberto Buzzetti ◽  
Annalisa Amato ◽  
Barbara Giordani ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Residual Function ◽  
Mutation Data

DISEASE CHARACTERISATION OF PEOPLE WITH CYSTIC FIBROSIS AND A MINIMAL FUNCTION MUTATION: DATA FROM THE ITALIAN REGISTRY

2021 ◽  
Author(s):  
Donatello Salvatore ◽  
Vincenzo Carnovale ◽  
Fabio Majo ◽  
Rita Padoan ◽  
Serena Quattrucci ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Minimal Function ◽  
Mutation Data

scholarly journals Tezacaftor–Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis

2017 ◽  
Vol 377 (21) ◽  
pp. 2024-2035 ◽  
Author(s):  
Steven M. Rowe ◽  
Cori Daines ◽  
Felix C. Ringshausen ◽  
Eitan Kerem ◽  
John Wilson ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Residual Function

scholarly journals Expectations about CFTR modulators among physicians from Italian Cystic fibrosis centers: a survey about the evolution of clinical practice paradigms for cystic fibrosis

2021 ◽  
Author(s):  
Rosaria Casciaro ◽  
Stefano Costa ◽  
Mirco Ros ◽  
Fabio Majo
Keyword(s):  
Cystic Fibrosis ◽  
Evaluation Criteria ◽  
Residual Function ◽  
Asymptomatic Patients ◽  
Patient Groups ◽  
New Guidelines ◽  
Age Range ◽  
Level Of Importance ◽  
Cftr Modulators

CFTR modulators (CFTRm) were introduced recently but they are already profoundly changing Cystic Fibrosis (CF) landscape. This survey was conducted in 2018 to evaluate how their perception and use evolved in Italy, with focus on factors that could influence physician treatment decisions. Response rate was 75.6% and the majority of physicians (81%) had been working in CF for over 5 years. While traditional parameters such as lung function and nutritional status remain key evaluation criteria in relation to initiation and monitoring of CFTRm, pulmonary exacerbations ranked at least at the same level of importance in both pediatric and adolescent/adult patients homozygous for F508del, as well as those with residual function mutations. Increasing interest is shown for tools that can help detect early manifestations of disease such as Lung Clearance Index and imaging. Patient-related outcomes, such as ability to conduct daily activities, are also deemed relevant in decision to start and continue CFTRm. Physician decision to initiate treatment according to clinical presentation was similar in all groups, showing that more importance was given to severity/instability of disease rather than mutation type or age range. A relatively low percentage of physicians would treat asymptomatic patients, in particular very young or those with residual function mutations, showing reluctance to treat early in some patient groups in the absence of clear manifestations of CF. Increasing experience with CFTRm will allow to gain more long term evidence and will help shape new guidelines.

scholarly journals Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators

JCI Insight ◽  
2018 ◽  
Vol 3 (14) ◽  
Author(s):  
Sangwoo T. Han ◽  
Andras Rab ◽  
Matthew J. Pellicore ◽  
Emily F. Davis ◽  
Allison F. McCague ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Small Molecule ◽  
Residual Function ◽  
Cftr Modulators

Triple Therapy for Cystic Fibrosis Phe508del–Gating and –Residual Function Genotypes

2021 ◽  
Vol 385 (9) ◽  
pp. 815-825
Author(s):  
Peter J. Barry ◽  
Marcus A. Mall ◽  
Antonio Álvarez ◽  
Carla Colombo ◽  
Karin M. de Winter-de Groot ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Triple Therapy ◽  
Residual Function

Association of residual function of cystic fibrosis transmembrane conductance regulator and lung clearance index in patients with normal FEV1

2017 ◽  
Author(s):  
Florian Singer ◽  
Nadine Bernasconi ◽  
Sylvia Nyilas ◽  
Tobias Ehrenreich ◽  
Elisabeth Kieninger ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Residual Function ◽  
Lung Clearance ◽  
Lung Clearance Index ◽  
Cystic Fibrosis Transmembrane

Clinical characteristics and disease severity of adults with cystic fibrosis with at least one residual function mutation

2018 ◽  
Author(s):  
Martina Contarini ◽  
Andrea Gramegna ◽  
Stefano Aliberti ◽  
Giovanni Sotgiu ◽  
Manuela Seia ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Disease Severity ◽  
Clinical Characteristics ◽  
Residual Function

Long-term outcomes and clinical worsening in cystic fibrosis patients with at least one residual function mutation

2018 ◽  
Author(s):  
Andrea Gramegna ◽  
Martina Contarini ◽  
Stefano Aliberti ◽  
Giovanni Sotgiu ◽  
Manuela Seia ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Long Term Outcomes ◽  
Residual Function ◽  
Clinical Worsening

scholarly journals P255 Rate of lung function decline in patients with cystic fibrosis (cf) having a residual function gene mutation

2017 ◽  
Author(s):  
G Sawicki ◽  
MW Konstan ◽  
E McKone ◽  
RB Moss ◽  
B Lubarsky ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Lung Function ◽  
Gene Mutation ◽  
Lung Function Decline ◽  
Residual Function
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