The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN

被引：18

作者：

Raidt, Johanna ^{[1
]}

Maitre, Bernard ^{[2
,3
]}

Pennekamp, Petra ^{[1
]}

Altenburg, Josje ^{[4
]}

Anagnostopoulou, Pinelopi ^{[5
]}

Armengot, Miguel ^{[6
,7
]}

Bloemsma, Lizan D. ^{[8
]}

Boon, Mieke ^{[9
]}

Borrelli, Melissa ^{[10
]}

Brinkmann, Folke ^{[11
]}

Carr, Siobhan B. ^{[12
,13
,14
]}

Carroll, Mary P. ^{[15
]}

Castillo-Corullon, Silvia ^{[16
]}

Coste, Andre ^{[17
,18
]}

Cutrera, Renato ^{[19
]}

Dehlink, Eleonora ^{[20
]}

Destouches, Damien M. S. ^{[21
]}

Di Cicco, Maria E. ^{[22
]}

Dixon, Lucy ^{[23
]}

Emiralioglu, Nagehan ^{[24
]}

Eralp, Ela Erdem ^{[25
]}

Haarman, Eric G. ^{[26
]}

Hogg, Claire ^{[12
,13
,14
]}

Karadag, Bulent ^{[25
]}

Kobbernagel, Helene E. ^{[27
]}

Lorent, Natalie ^{[9
]}

Mall, Marcus A. ^{[28
,29
,30
,31
,32
]}

Marthin, June K. ^{[27
]}

Martinu, Vendula ^{[33
,34
]}

Narayanan, Manjith ^{[35
]}

Ozcelik, Ugur ^{[24
]}

Peckham, Daniel ^{[36
]}

Pifferi, Massimo ^{[22
]}

Pohunek, Petr ^{[33
,34
]}

Polverino, Eva ^{[37
]}

Range, Simon ^{[38
]}

Ringshausen, Felix C. ^{[39
,40
]}

Robson, Evie ^{[36
]}

Roehmel, Jobst ^{[28
,29
,30
]}

Rovira-Amigo, Sandra ^{[41
]}

Santamaria, Francesca ^{[36
]}

Schlegtendal, Anne ^{[11
]}

Szepfalusi, Zsolt ^{[20
]}

Tempels, Petra ^{[42
]}

Thouvenin, Guillaume ^{[43
]}

Ullmann, Nicola ^{[19
]}

Walker, Woolf T. ^{[15
]}

Wetzke, Martin ^{[39
,40
]}

Yiallouros, Panayiotis ^{[5
]}

Omran, Heymut ^{[1
]}

机构：

[1] Univ Hosp Muenster, Dept Gen Pediat, Munster, Germany

[2] Hop Henri Mondor, Serv Pneumol, Creteil, France

[3] Ctr Hosp Intercommunal Creteil, Assistance Publ Hop Paris AP HP, Creteil, France

[4] Amsterdam UMC, Locat AMC, Dept Pulmonol, Amsterdam, Netherlands

[5] Univ Cyprus, Med Sch, Nicosia, Cyprus

[6] La Fe Polytech & Univ Hosp, ENT Dept, Valencia, Spain

[7] Univ Valencia, Surg Dept, CIBER Rare Dis CIBERES, Carlos Hlth Inst 3,Minist Sci & Innovat, Valencia, Spain

[8] Univ Amsterdam, Dept Resp Med, Amsterdam UMC, Amsterdam, Netherlands

[9] Univ Hosp Leuven, Dept Pediat, Leuven, Belgium

[10] Univ Naples Federico II, Azienda Osped Univ Federico 2, Dept Translat Med Sci, Pediat Pulmonol, Naples, Italy

[11] Ruhr Univ Bochum, Dept Paediat Pulmonol, Univ Childrens Hosp, St Josef Hosp, Bochum, Germany

[12] Royal Brompton Hosp, PCD Ctr, London, England

[13] Royal Brompton Hosp, Dept Paediat Resp Med, London, England

[14] Imperial Coll, NHLI, London, England

[15] Univ Hosp Southampton NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, NIHR Biomed Res Ctr, Southampton, Hants, England

[16] Hosp Clin Univ Valencia, Paediat Pulmonol Unit, Valencia, Spain

[17] Hop Henri Mondor, Serv ORL, Creteil, France

[18] Ctr Hosp Intercommunal Creteil, AP HP, Creteil, France

[19] Bambino Gesu Pediat Hosp, IRCCS,Pediat Pulmonol & Resp Intermediate Care Un, Acad Dept Pediat DPUO, Sleep & Long Term Ventilat Unit, Rome, Italy

[20] Med Univ Vienna, Dept Pediat & Adolescent Med, Div Pediat Pulmonol Allergol & Endocrinol, Vienna, Austria

[21] Assoc Patients Ayant Dyskinesie Ciliaire Primit A, St Etienne, France

[22] Pisa Univ Hosp, Unit Pediat, Pulmonol & Allergol Sect, Pisa, Italy

[23] PCD Support UK, Buckingham, England

[24] Hacettepe Univ, Dept Pediat Pulmonol, Fac Med, Ankara, Turkey

[25] Marmara Univ, Pendik Training & Res Hosp, Div Pediat Pulmonol, Istanbul, Turkey

[26] Amsterdam UMC, Dept Pediat Pulmonol, Locat VUmc, Emma Childrens Hosp, Amsterdam, Netherlands

[27] Copenhagen Univ Hosp, Rigshosp, Danish Primary Ciliary Dyskinesia Ctr, Dept Paediat & Adolescent Med,Paediat Pulm Serv, Copenhagen, Denmark

[28] Charite Univ Med Berlin, Dept Pediat Resp Med Immunol & Crit Care Med, Berlin, Germany

[29] Free Univ Berlin, Berlin, Germany

[30] Humboldt Univ, Berlin, Germany

[31] Charite Univ Med Berlin, Berlin Inst Hlth BIH, Berlin, Germany

[32] German Ctr Lung Res DZL, Berlin, Germany

[33] Charles Univ Prague, Fac Med 2, Dept Paediat, Prague, Czech Republic

[34] Motol Univ Hosp, Prague, Czech Republic

[35] Univ Leicester, Dept Resp Sci, PCD Diag & Res, Leicester, Leics, England

[36] Leeds Teaching Hosp NHS Trust, Primary Ciliary Dyskinesia Management Ctr, Leeds, W Yorkshire, England

[37] Hosp Univ Vall dHebron, Vall dHebron Inst Recerca VHIR, Pneumol Dept, Vall dHebron Barcelona Hosp Campus, Barcelona, Spain

[38] Univ Hosp Leicester, Dept Resp Med, Leicester, Leics, England

[39] Hannover Med Sch MHH, Dept Resp Med, Hannover, Germany

[40] DZL, Hannover, Germany

[41] Hosp Univ Vall dHebron, Dept Pediat Pulmonol, VHIR, Vall dHebron Barcelona Hosp Campus, Barcelona, Spain

[42] Kartagener Syndrom & Primare Ciliare Dyskinesie e, Hannover, Germany

[43] Armand Trousseau Hosp, AP HP, Pediat Pulmonol Dept, Reference Ctr Rare Lung Dis RespiRare, Paris, France

来源：

ERJ OPEN RESEARCH | 2022年 / 8卷 / 03期

关键词：

MANAGEMENT; MUTATIONS;

D O I：

10.1183/23120541.00139-2022

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by impaired mucociliary clearance leading to irreversible lung damage. In contrast to other ram lung diseases like cystic fibrosis (CF), there are only few clinical trials and limited evidence-based treatments. Management is mainly based on expert opinions and treatment is challenging due to a wide range of clinical manifestations and disease severity. To improve clinical and translational research and facilitate development of new treatments, the clinical trial network for PCD (PCD-CTN) was founded in 2020 under the framework of the European Reference Network (ERN)-LUNG PCD Core. Applications from European PCD sites interested in participating in the PCD-CTN were requested. Inclusion criteria consisted of patient numbers, membership of ERN-LUNG PCD Core, use of associated standards of care, experience in PCD and/or CF clinical research, resources to run clinical trials, good clinical practice (GCP) certifications and institutional support. So far, applications from 22 trial sites in 18 European countries have been approved, including >1400 adult and >1600 paediatric individuals with PCD. The PCD-CTN is headed by a coordinating centre and consists of a steering and executive committee, a data safety monitoring board and committees for protocol review, training and standardisation. A strong association with patient organisations and industrial companies are further cornerstones. All participating trial sites agreed on a code of conduct. As CTNs from other diseases have demonstrated successfully, this newly formed PCD-CTN operates to establish evidence-based treatments for this orphan disease and to bring new personalised treatment approaches to patients.

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