Primary ciliary dyskinesia in adults with bronchiectasis: Data from the Embarc registry

Shoemark, Amelia; Polverino, Eva; Blasi, Francesco; Ringshausen, Felix C.; Soyza, Anthony De; Vendrell, Montserrat; Goeminne, Pieter; Boersma, Wim; Haworth, Charles; Murris, Marlène; Dimakou, Katerina; Hill, Adam T.; Loebinger, M.R.; Menéndez, Rosário; Torres, Antoni; Welte, Tobias; Wilson, Robert; Elborn, Stuart; Alberti, Stefano; Chalmers, James D.

doi:10.1183/13993003.congress-2018.pa359

Cited by 7 publications

(5 citation statements)

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“…Although a reduction in peripheral muscle strength (functionality) was reflected across all aetiologies, it was significant in those with PCD where 96% of individuals failed to achieve normative values (>85%) and only 8% remained free of respiratory pathogens during the study period The autosomal recessive nature of PCD, distinguishes it from other forms of bronchiectasis and in line with European registry data [32] PCD was characterised by earlier decline in lung function. These findings are supported by an earlier study in younger children with PCD who displayed deficits in exercise capacity and respiratory muscle strength as early as age 10 years [33].…”

Section: Anthropometrysupporting

confidence: 55%

Nutritional status and intake in patients with non-cystic fibrosis bronchiectasis (NCFB) - a cross sectional study

et al. 2021

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Section: Anthropometrysupporting

confidence: 55%

Nutritional status and intake in patients with non-cystic fibrosis bronchiectasis (NCFB) - a cross sectional study

et al. 2021

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“…The larger percentage of patients with idiopathic aetiology in ASPEN compared with EMBARC may reflect the inclusion of non-European regions in ASPEN. Finally, the fact that primary ciliary dyskinesia was the third most common aetiology identified in ASPEN, an aetiology that has been associated with more severe bronchiectasis [ 26 ], and was more frequent than has been reported in large adult registry studies suggests that these patients may be likely to have a severe bronchiectasis phenotype. Notably, primary ciliary dyskinesia was quite variable among regions, which may be due to differences in gene carriage prevalence or differences in testing availability in different regions.…”

Section: Discussionmentioning

confidence: 99%

Brensocatib in non-cystic fibrosis bronchiectasis: ASPEN protocol and baseline characteristics

Chalmers,

Burgel,

Daley

et al. 2024

ERJ Open Res

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Brensocatib is an investigational, oral, reversible inhibitor of dipeptidyl peptidase-1 shown to prolong time to first exacerbation in adults with bronchiectasis. Outlined here are the clinical trial design, and baseline characteristics and treatment patterns of adult patients enrolled in the phase 3 ASPEN trial (NCT04594369).A global study enrolling patients with a clinical history consistent with bronchiectasis (cough, chronic sputum production, and/or recurrent respiratory infections), diagnosis confirmed radiologically, and ≥2 exacerbations in the prior 12 months, ASPEN was designed to evaluate the impact of two brensocatib doses (10 mg and 25 mg) on exacerbation rate over a 52-week treatment periodversusplacebo. Comprehensive clinical data, including demographics, disease severity, lung function,Pseudomonas(P.) aeruginosastatus, and quality of life, were collected at baseline.1682 adults from 35 countries were randomised from December 2020 to March 2023. Mean age was 61.3 years and 64.7% were female. Approximately 70% had moderate-to-severe Bronchiectasis Severity Index (BSI) scores, 29.3% had ≥3 exacerbations in the prior 12 months, and 35.7% were positive forP. aeruginosa. Mean BSI scores were highest in Australia/New Zealand (8.3) and lowest in Latin America (5.9). Overall, the most common aetiology was idiopathic (58.4%). InP. aeruginosa–positiveversus –negative patients, lung function was lower, with greater long-term macrolide (21.5%versus14.0%) and inhaled corticosteroid use (63.5%versus53.9%). There was wide regional variation in long-term antibiotic use in patients with bronchiectasis andP. aeruginosa.ASPEN baseline characteristics and treatment profiles were representative of a global bronchiectasis population.

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“…The clinical characteristics among cohorts in this study depict the frequency of chronic cough and sinusitis as very common among suspected subjects with PCD in Puerto Rico. As explained in other published studies, bronchiectasis is a critical clinical sign that should raise awareness about PCD as a potential diagnosis [ 16 ]. Considering a prevalence of 80% bronchiectasis in the cases with PCD (cohort 1) at the time of diagnosis should be a red flag for PCD.…”

Section: Discussionmentioning

confidence: 99%

Nasal Nitric Oxide Levels: Improving the Diagnosis of Primary Ciliary Dyskinesia in Puerto Rico

Jesus-Rojas

Alvarado-Huerta

Melendez-Montañez

et al. 2022

ARM

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Primary Ciliary Dyskinesia (PCD) is a rare genetic disease characterized by motile cilia dysfunction with a prevalence of 1 in 16,309 individuals in Hispanic populations. In Puerto Rico, the prevalence of PCD is unknown. Diagnosis of PCD in Puerto Rico is challenging due to the lack of diagnostic technology. Algorithms for PCD diagnosis include clinical history, genetic testing, ciliary biopsy, and nasal Nitric Oxide (nNO) levels. For the first time, this study successfully implemented and measured the nNO levels in subjects with the RSPH4A (c.921+3_921+6del (intronic)) as a diagnostic tool to complement the current algorithm for PCD diagnosis on the island. The nNO level differentiated homozygous subjects with PCD due to the RSPH4A (c.921+3_921+6del (intronic)) founder mutation compared to healthy gender-age matched controls and subjects with VUS or negative genetic testing for PCD. The acquisition of state-of-the-art diagnostic tools such as nNO positively impacted and expanded our current PCD diagnostic capabilities in Puerto Rico for our founder genetic mutation. The addition of nNO technology promotes earlier disease screening and recognition for patients with PCD on the island. The access to nNO helped us to properly characterize the PCD diagnosis for patients with the RSPH4A (c.921+3_921+6del (intronic)). As a result, our findings will allow us to be part of the national PCD foundation registry and represent Puerto Rican Hispanics in future PCD multicentric clinical trials.

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Primary ciliary dyskinesia in adults with bronchiectasis: Data from the Embarc registry

Cited by 7 publications

References 0 publications

Nutritional status and intake in patients with non-cystic fibrosis bronchiectasis (NCFB) - a cross sectional study

Nutritional status and intake in patients with non-cystic fibrosis bronchiectasis (NCFB) - a cross sectional study

Brensocatib in non-cystic fibrosis bronchiectasis: ASPEN protocol and baseline characteristics

Nasal Nitric Oxide Levels: Improving the Diagnosis of Primary Ciliary Dyskinesia in Puerto Rico

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