Long-term use of nebulized human recombinant DNase1 in two siblings with primary ciliary dyskinesia

El-Abiad, Nisreen M.; Clifton, Shelley; Nasr, Samya Z.

doi:10.1016/j.rmed.2007.05.014

Cited by 34 publications

(20 citation statements)

References 16 publications

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“…150 Several case reports of DNase in PCD suggest possible benefit when used for both short and long-term periods. [151][152][153] Larger, prospective clinical studies of DNase in children and young adults with PCD are required before the potential negative effects of this medication can be dismissed.…”

Section: Therapies To Consider On a Case By Case Basis In Pcdmentioning

confidence: 99%

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Shapiro

Zariwala

Ferkol

et al. 2015

Pediatric Pulmonology

341

438

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SummaryPrimary ciliary dyskinesia (PCD) is a genetically heterogeneous, rare lung disease resulting in chronic oto‐sino‐pulmonary disease in both children and adults. Many physicians incorrectly diagnose PCD or eliminate PCD from their differential diagnosis due to inexperience with diagnostic testing methods. Thus far, all therapies used for PCD are unproven through large clinical trials. This review article outlines consensus recommendations from PCD physicians in North America who have been engaged in a PCD centered research consortium for the last 10 years. These recommendations have been adopted by the governing board of the PCD Foundation to provide guidance for PCD clinical centers for diagnostic testing, monitoring, and appropriate short and long‐term therapeutics in PCD patients. Pediatr Pulmonol. 2016;51:115–132. © 2015 The Authors. Pediatric Pulmonology Published by Wiley Periodicals, Inc.

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Section: Therapies To Consider On a Case By Case Basis In Pcdmentioning

confidence: 99%

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Shapiro

Zariwala

Ferkol

et al. 2015

Pediatric Pulmonology

341

438

View full text Add to dashboard Cite

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“…Neutrophilic airway inflammation has been reported in PCD (123). Until now, few PCD studies have showed significant clinical benefits of a trial with inhaled DNase (124–126). At present, rhDNase is not recommended in PCD, and larger studies are needed to confirm its efficacy in PCD.…”

Section: Current and Future Treatment Strategiesmentioning

confidence: 99%

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

2017

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Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even higher. PCD is characterized by chronic upper and lower respiratory tract disease, infertility/ectopic pregnancy, and situs anomalies, that occur in ≈50% of PCD patients (Kartagener syndrome), and these may be associated with congenital heart abnormalities. Most patients report a daily year-round wet cough or nose congestion starting in the first year of life. Daily wet cough, associated with recurrent infections exacerbations, results in the development of chronic suppurative lung disease, with localized-to-diffuse bronchiectasis. No diagnostic test is perfect for confirming PCD. Diagnosis can be challenging and relies on a combination of clinical data, nasal nitric oxide levels plus cilia ultrastructure and function analysis. Adjunctive tests include genetic analysis and repeated tests in ciliary culture specimens. There are currently 33 known genes associated with PCD and correlations between genotype and ultrastructural defects have been increasingly demonstrated. Comprehensive genetic testing may hopefully screen young infants before symptoms occur, thus improving survival. Recent surprising advances in PCD genetic designed a novel approach called “gene editing” to restore gene function and normalize ciliary motility, opening up new avenues for treating PCD. Currently, there are no data from randomized clinical trials to support any specific treatment, thus, management strategies are usually extrapolated from cystic fibrosis. The goal of treatment is to prevent exacerbations, slowing the progression of lung disease. The therapeutic mainstay includes airway clearance maneuvers mainly with nebulized hypertonic saline and chest physiotherapy, and prompt and aggressive administration of antibiotics. Standardized care at specialized centers using a multidisciplinary approach that imposes surveillance of lung function and of airway biofilm composition likely improves patients’ outcome. Pediatricians, neonatologists, pulmonologists, and ENT surgeons should maintain high awareness of PCD and refer patients to the specialized center before sustained irreversible lung damage develops. The recent creation of a network of PCD clinical centers, focusing on improving diagnosis and treatment, will hopefully help to improve care and knowledge of PCD patients.

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“…Recombinant human DNase I cleaves extracellular DNA, decreasing the DNA concentration, and thereby decreasing sputum viscosity. There are several case reports noting improvement in pulmonary symptoms in PCD patients with both intermittent 61 and chronic use 62, 63 . Although PCD airway secretions contain elevated DNA concentrations 55 , it is not to the same degree as CF.…”

Section: Disease Managementmentioning

confidence: 99%

Genetics, diagnosis and future treatment strategies for primary ciliary dyskinesia

Daniels

Noone

2014

Expert Opinion on Orphan Drugs

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Introduction Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder resulting in chronic oto-sino-pulmonary disease. While PCD is estimated to occur in 1 in 20,000 individuals, fewer than 1,000 patients in the US have a well-established diagnosis. Areas Covered We provide an overview of the clinical manifestations of PCD, describe the evolution of diagnostic methods, and critique the literature on management of PCD. Expert Opinion Although interest in clinical studies in non-CF bronchiectasis has increased in recent years, some of whom enroll patients with PCD, the literature regarding therapy for PCD as a distinct entity is lacking, as the numbers are small, and there have been no sub-analyses published. However, with improved screening and diagnostic methods, the development of clinical and research consortiums, and actively enrolling registries of PCD patients, the environment is conducive to perform longitudinal studies of disease course and therapeutic studies to alter that course.

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Long-term use of nebulized human recombinant DNase1 in two siblings with primary ciliary dyskinesia

Abstract: Primary ciliary dyskinesia (PCD) is characterized by ultra-structural defects of the cilia. In this report, we describe the long-term use of nebulized dornase alfa in two siblings with PCD. This is the first report of long-term use of dornase alfa in PCD.

Cited by 34 publications

References 16 publications

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

Genetics, diagnosis and future treatment strategies for primary ciliary dyskinesia

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