Child Life and Health

Dr Don Urquhart

Don Urquhart’s research interests are in respiratory paediatrics, namely Exercise in Cystic Fibrosis and sleep-disordered breathing. He is PI on a number of pharmaceutical studies of novel pharmaceutical agents for Cystic Fibrosis.

Dr Don Urquhart

Consultant in Paediatric Respiratory and Sleep Medicine

  • Child Life and Health

Contact details


Dr Urquhart`s research interest in Cystic Fibrosis (CF) is long-standing. He completed an MSc [2001-2003] investigating effect of Toll-like receptor 4 genotypes in CF. This was awarded (with Distinction) by University of London. His MD research was on the relationship of sleep and exercise hypoxia with inflammation and clinical wellbeing in CF – MD awarded from UCL in 2010. He has undertaken several investigator-led studies on exercise in CF, as well as acting as PI or CI on several clinical trials of investigational medicinal products in CF [VX14-809-109, VX15-809-110, and VX15-809-112 – all sponsored by Vertex Pharmaceuticals.]

Don undertook a Sleep Fellowship in Brisbane (2008-2009), working on a project looking at central sleep-disordered breathing in Prader-Willi Syndrome during his time there. He has continued to pursue a sleep research programme since that time.

  • 1995: BSc(MedSci) - Second Class Honours. University of Aberdeen
  • 1996: MB ChB. University of Aberdeen
  • 2000: MRCPCH. Royal College of Paediatrics and Child Health
  • 2003: MSc (with distinction). University of London
  • 2010: MD. University College London
  • 2015: FRCPCH. Royal College of Paediatrics and Child Health

Group Members

  • Zoe Johnstone, Highly Specialised Physiotherapist, Royal Hospital for Sick Children, Edinburgh

  • Dr Lizzie Hill, Senior Sleep Physiologist, Royal Hospital for Sick Children, Edinburgh
  • Respiratory Physiology Team, Royal Hospital for Sick Children, Edinburgh

Research Overview

Don's current research themes are in sleep and exercise research.


Don's principal research interest is exercise in Cystic Fibrosis (CF). He has undertaken a number of investigator-led studies in this area including work on supervised exercise training regimes in children with CF which demonstrated improvement in rates of hospitalisation, antibiotic requirements and quality of life. The first such study was undertaken in Brisbane in 2008-20091 with data replicated and verified in a second cohort on moving to Edinburgh2. This has led neatly on to Don's role as UK Chief Investigator for ACTIVATE-CF: Effects of a 6-month partially supervised conditioning program in CF: an international multi-centre, randomised controlled trial. ACTIVATE-CF is a study running across Germany, Austria, Switzerland, France, USA, Canada, Netherlands and UK (Edinburgh). Further studies completed include the study of the undertaking of airway clearance phsyiotherapy immediately before exercise, when he supervised a PhD student (Fernanda Vendrusculo) from Brazil to undertake this work, which was presented at the 2017 European CF Society Conference3. Manuscript submitted.

Don is a member of the European Cystic Fibrosis Society (ECFS) Exercise Working Group, and co-authored the ECFS/European Respiratory Society (ERS) Statement on Exercise Testing in CF4.

He has contributed data to two studies as part of the ECFS Working Group.

  • Association between Cystic fibrosis transmembrane conductance regulator (CFTR) genotype and exercise capacity in CF5. Edinburgh contributed data on 39 subjects to this international multicentre collaboration.
  • Retrospective study on additional prognostic information from cardiopulmonary exercise testing in cystic fibrosis. Don contributed 40 subjects to this international collaboration. Presented at 2017 European CF Society Conference.  6 Manuscript in preparation.

In addition, Don is a member of the European Respiratory Society Task Force on Standardisation of Exercise Testing in Respiratory Disease.

Don is UK Chief Investigator for the VX15:809-112 study, a phase IV clinical trial of Orkambi® in subjects with CF utilising exercise capacity as primary outcome measure. The study began in October 2016, with 3 subjects recruited in Edinburgh. This is exciting to be involved with as it is the first study of its type to use VO2 peak as a primary outcome measure, and leaves Edinburgh well-positioned for future CTIMP studies that wish to utilise exercise as primary outcome.



Don has active interests in two main areas.

First, his group are undertaking some proof of concept work in ascertaining the prevalence of sleep disordered breathing in children with epilepsy. The study uses polysomnography to study sleep in children with epilepsy and control subjects. Entitled “Investigation of sleep quality and prevalence of sleep-disordered breathing in children and young people with epilepsy” is supported by a grant from Action Medical Research and RS MacDonald Charitable Trust. This builds on work previously undertaken using questionnaires as surrogate markers for sleep disordered breathing where the prevalence of obstructive sleep apnoea was estimated as 55% in children with epilepsy compared with 7% in controls subjects7.

Secondly, he has ongoing work looking at the UK wide epidemiology of Pierre-Robin sequence, in conjunction with Dr Marie Wright who is supported by the Sir Peter Tizard Bursary of £11,000 from the British Paediatric Surveillance Unit of the Royal College of Paediatrics and Child Health.

In addition, he is supervising investigator with Dr Thom O’Neill in a study on sleep quality in adolescents with type I diabetes. This will gather pilot data to inform a larger study with polysomnography measurement of sleep efficiency and quality in diabetes, as well as a possible intervention with closed-loop blood glucose control systems.

  1. Black et al. Pediatr Pulmonol 2009; 44 (S32): 391-392
  2. Urquhart et al. Pediatr Pulmonol 2012; 47: 1235-1241
  3. Vendrusculo FM, et al. J Cyst Fibros 2017; 16 (Suppl 1): S8
  4. Hebestreit et al. Respiration 2015;90:322-351
  5. Radtke et al. Ann Am Thorac Soc 2017; In press
  6. Hebestreit et al. J Cyst Fibros 2017; 16 (Suppl 1):S15.
  7. Urquhart  et al. Dev Med Child Neurol 2016; 58:1063-1068.

Sources of Funding

  • March 2017-March 2019: Funder = Action Medical Research and RS MacDonald Charitable Trust [£43, 868]. Investigation of sleep quality and prevalence of sleep-disordered breathing in children and young people with epilepsy. Role: PI and principal grant applicant.
  • October 2015-November 2017: Local Funder = Sick Kids’ Friends Foundataion [£20,800] enabling local participation. Funder = Vertex Innovation Award [$200,000] for overall study management. ACTIVATE-CF: Multi-centre randomised, controlled trial of  partially-supervised exercise in CF. International study [Germany / Switzerland / Austria / US / Canada / Netherlands / France / Scotland]. Role: UK Chief investigator.
  • October 2016-November 2017: Funder= Vertex Pharmaceuticals VX15:909-112 - A Phase 4, Randomized, Double-Blind, Placebo-Controlled, Parallel-Design Study of the Effect of Lumacaftor/Ivacaftor Combination Therapy on Exercise Tolerance in Subjects Aged 12 Years and Older With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation. Role: Chief investigator.
  • June 2016 to May 2018: Funder= Vertex Pharmaceuticals. VX15:909-110: A Phase 3, Rollover Study to Evaluate the Safety and Efficacy of Long-term Treatment With Lumacaftor in Combination With Ivacaftor in Subjects Aged 6 Years and Older With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation. Role: Principal investigator.

Selected Publications

 Original Papers: 
  • Radtke T, Hebestreit H, Gallati S, Schnederman JE, Braun J, Stevens D, Hulzebos EHJ, Takken T, Boas SR, Urquhart DS, Lands LC, Tejero S, Sovtic A, Dwyer T, Petrovic M, Harris RA, Karila C, Savi D, Usemann J, Mei-Zahav M. Hatziagorou E, Ratjen F, Kreimler S, for the CFTR-Exercise study group. CFTR genotype and aerobic exercise in cystic fibrosis: a cross-sectional study. Ann Am Thorac Soc 2017; In press.
  • Urquhart DS, Kehinde OO, McLellan AE. Observational pilot study of reported symptoms of Obstructive Sleep Apnoea (OSA) in children with epilepsy and healthy controls. Dev Med Child Neurol 2016; 58:1063-1068.
  •  Urquhart DS, Gallella S, Gidaris D, Brady E, Blacklock S, Tsirikos AI. Six-year follow-up study on the effect of combined anterior and posterior spinal fusion on lung function and quality of life in young people with adolescent idiopathic scoliosis. Arch Dis Child 2014; 99:922-926.
  • Urquhart DS, Gulliver T, Williams G, Harris MA, O Nyunt, Suresh S. Central sleep-disordered breathing and the effects of oxygen therapy in infants with Prader-Willi syndrome. Arch Dis Child; 2013; 98: 592-595.
  • Urquhart DS, Thia LP, Francis J, Prasad A, Dawson C, Wallis C, Balfour-Lynn I. Deaths in childhood from Cystic Fibrosis: 10-year analysis from two London specialist centres. Arch Dis Child 2013; 98: 123-127.
  • Urquhart D, Sell Z, Dhouieb E, Bell G, Oliver S, Black R, Tallis M. Effects of a supervised, out-patient exercise and physiotherapy programme in children with Cystic Fibrosis. Pediatr Pulmonol 2012; 47: 1235-1241.
  • Urquhart DS, Anderson A-K, McKenzie SA. Fewer colds, less asthma? – A hypothesis to explain the fall in childhood asthma in the United Kingdom. J Epidemiol Community Health 2008; 62: 921-925.
  • Urquhart DS, Fitzpatrick M, Cope J, Jaffé A. Vitamin K prescribing patterns and bone health surveillance in UK children with Cystic Fibrosis. J Hum Nutr Diet 2007; 20: 605-610.
  • Urquhart DS, Allen J, Elrayess M, Fidler K, Klein N, Jaffé A. Modifier effect of toll-like receptor 4 (TLR4) d299g polymorphism in children with cystic fibrosis. Arch Immunol Ther Exp 2006; 54: 271-276.
International Guidelines:
  • Hebestreit H, Arets HGM, Aurora P, Boas S, Cerny F, Hulzebos EHJ, Karila C, Lands LC, Lowman  JD, Swisher A, Urquhart DS, for the Cystic Fibrosis Exercise Working Group. Statement on Exercise Testing in Cystic Fibrosis. Respiration 2015;90:322-351.
National Guidelines:
  • Balfour-Lynn IM, Abrahamson E, Cohen G, Hartley J, King S, Parikh D, Spencer D, Thomson AH, Urquhart D. British Thoracic Society guidelines for the management of pleural infection in children. Thorax 2005; 60 (Supplement I): i1-i21.
Review Articles:
  • Urquhart DS, Vendrusculo FM. Clinical interpretation of Cardiopulmonary Exercise Testing in Cystic Fibrosis and implications for exercise counselling. Pediatr Respir Rev 2017; 24:72-78.
  • Urquhart DS, Hill EA, Morley A. Sleep-disordered breathing in children. Paediatrics and Child Health 2017; 27: 28-336.
  • Tan HL, Urquhart DS. Respiratory complications of Prader-Willi Syndrome. Paediatr Respir Rev  2017; 22:52-29.
  • Urquhart DS, Tan HL. Sleep-disordered breathing at the extremes of age: Infancy. Breathe 2016; 12: e1-e11.
Case Reports:
  • Unger SA, Guillot M, Urquhart DS. A Case of 'Abnormally Abnormal' Hypoxic Ventilatory Responses - A Novel NPARM PHOX 2B Gene Mutation. J Clin Sleep Med 2017;13:1013-1015.
  • Langley R, Hill L, Hill EA, Urquhart DS. The curious incident of groaning in the night-time.....Breathe 2017;13:123-126.

Case Series:

  • Campbell J, Fitzpatrick DR, Azam T, Gibson NA, Somerville L, Joss SK, DDD Study,  Urquhart D. NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm with Central Apnoea: A Case Series. Pediatrics 2017; In press.   

Honours and Awards

  • NRS Career Researcher Award.
  • Funding for 0.2WTE research sessions by Chief Scientist’s Office (Scotland) from 2012 until 2015.
  • Continued funding via NHS Lothian R+D until 2019.

Other Responsibilities

Paediatric Exercise  Medicine:
  • Member, European Cystic Fibrosis Society working group on exercise testing in Cystic Fibrosis.

  • Member, European Respiratory Society Task Force on Standardisation of Exercise Testing in Respiratory Disease.

  • Guest Lecturer on MSc in Cardiorespiratory Physiotherapy at University College London 2011-2017
Paediatric Sleep Medicine:
  • Co-chair, British Paediatric Sleep Association

  • Tutor, Edinburgh Sleep Course, 2011-2017


  • Dr Jay Shetty, Consultant in Paediatric Neurology, Royal Hospital for Sick Children, Edinburgh
  • Dr Ailsa McLellan, Consultant in Paediatric Neurology, Royal Hospital for Sick Children, Edinburgh
  • Dr Richard Chin, Muir Maxwell Epilepsy Centre, University of Edinburgh
  • Professor Helge Hebestreit, University of Wurzburg, Germany
  • Dr Thomas Radtke, University of Zurich
  • Dr Fernanda Vendrusculo, Porto Alegre, Brazil