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Article: Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis.

Haq, Iram / Almulhem, Maryam / Soars, Simone / Poulton, David / Brodlie, Malcolm

Pharmacogenomics and personalized medicine

2022 Volume 15, Page(s) 91–104

Abstract: Cystic fibrosis (CF) is an autosomal recessive genetic condition that is caused by variants in ... ...

Abstract	Cystic fibrosis (CF) is an autosomal recessive genetic condition that is caused by variants in the
Language	English
Publishing date	2022-02-05
Publishing country	New Zealand
Document type	Journal Article ; Review
ZDB-ID	2508173-1
ISSN	1178-7066
ISSN	1178-7066
DOI	10.2147/PGPM.S245603
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Article ; Online: Cystic fibrosis.

Shteinberg, Michal / Haq, Iram J / Polineni, Deepika / Davies, Jane C

Lancet (London, England)

2021 Volume 397, Issue 10290, Page(s) 2195–2211

Abstract: Cystic fibrosis is a monogenic disease considered to affect at least 100 000 people worldwide. Mutations in CFTR, the gene encoding the epithelial ion channel that normally transports chloride and bicarbonate, lead to impaired mucus hydration and ... ...

Abstract	Cystic fibrosis is a monogenic disease considered to affect at least 100 000 people worldwide. Mutations in CFTR, the gene encoding the epithelial ion channel that normally transports chloride and bicarbonate, lead to impaired mucus hydration and clearance. Classical cystic fibrosis is thus characterised by chronic pulmonary infection and inflammation, pancreatic exocrine insufficiency, male infertility, and might include several comorbidities such as cystic fibrosis-related diabetes or cystic fibrosis liver disease. This autosomal recessive disease is diagnosed in many regions following newborn screening, whereas in other regions, diagnosis is based on a group of recognised multiorgan clinical manifestations, raised sweat chloride concentrations, or CFTR mutations. Disease that is less easily diagnosed, and in some cases affecting only one organ, can be seen in the context of gene variants leading to residual protein function. Management strategies, including augmenting mucociliary clearance and aggressively treating infections, have gradually improved life expectancy for people with cystic fibrosis. However, restoration of CFTR function via new small molecule modulator drugs is transforming the disease for many patients. Clinical trial pipelines are actively exploring many other approaches, which will be increasingly needed as survival improves and as the population of adults with cystic fibrosis increases. Here, we present the current understanding of CFTR mutations, protein function, and disease pathophysiology, consider strengths and limitations of current management strategies, and look to the future of multidisciplinary care for those with cystic fibrosis.
MeSH term(s)	Bicarbonates ; Chlorides ; Cystic Fibrosis/genetics ; Cystic Fibrosis/physiopathology ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Disease Management ; Exocrine Pancreatic Insufficiency/mortality ; Genetic Therapy ; Humans ; Life Expectancy ; Mucociliary Clearance ; Mutation/genetics
Chemical Substances	Bicarbonates ; CFTR protein, human ; Chlorides ; Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6)
Language	English
Publishing date	2021-06-12
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	3306-6
ISSN	1474-547X ; 0023-7507 ; 0140-6736
ISSN (online)	1474-547X
ISSN	0023-7507 ; 0140-6736
DOI	10.1016/S0140-6736(20)32542-3
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Article ; Online: Exploring the impact of elexacaftor-tezacaftor-ivacaftor treatment on opinions regarding airway clearance techniques and nebulisers: TEMPO a qualitative study in children with cystic fibrosis, their families and healthcare professionals.

Almulhem, Maryam / Harnett, Nuala / Graham, Stephanie / Haq, Iram / Visram, Shelina / Ward, Christopher / Brodlie, Malcolm

BMJ open respiratory research

2022 Volume 9, Issue 1

Abstract: Background: Cystic fibrosis (CF) is a genetic condition caused by variants in the : Methods: Semistructured qualitative interviews were performed with 10 children with CF, 7 parents/carers and 10 HCPs. Audio recordings were transcribed and analysed ... ...

Abstract	Background: Cystic fibrosis (CF) is a genetic condition caused by variants in the Methods: Semistructured qualitative interviews were performed with 10 children with CF, 7 parents/carers and 10 HCPs. Audio recordings were transcribed and analysed using reflexive thematic analysis. Results: Four main themes were identified: 'Kaftrio changed my life', 'Your entire life is dictated by the CF timetable', 'Simplifying treatment-hopes and fears' and 'Kaftrio is a game-changer' along with several subthemes and an overarching theme of 'I still can't get my head around how three tablets can do what Kaftrio done'. Conclusions: Despite the highly positive impact of ETI on the health of children with CF some concerns remain about the longer-term outcomes of reducing ACTs or nebulised treatments. ETI has prompted a shift in treatment for many and offers an opportunity to personalise approaches.
MeSH term(s)	Aged ; Aminophenols ; Benzodioxoles ; Child ; Cyclic N-Oxides ; Cystic Fibrosis/drug therapy ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Delivery of Health Care ; Humans ; Indoles ; Mutation ; Nebulizers and Vaporizers ; Pyrazoles ; Pyridines ; Pyrrolidines ; Quinolones
Chemical Substances	Aminophenols ; Benzodioxoles ; Cyclic N-Oxides ; Indoles ; Pyrazoles ; Pyridines ; Pyrrolidines ; Quinolones ; tezacaftor ; Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6) ; ivacaftor (1Y740ILL1Z) ; elexacaftor (RRN67GMB0V) ; TEMPO (VQN7359ICQ)
Language	English
Publishing date	2022-10-04
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2736454-9
ISSN	2052-4439 ; 2052-4439
ISSN (online)	2052-4439
ISSN	2052-4439
DOI	10.1136/bmjresp-2022-001420
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Article ; Online: Gestational Development of the Human Immune System.

Jardine, Laura / Schim van der Loeff, Ina / Haq, Iram J / Sproat, Thomas D R

Immunology and allergy clinics of North America

2022 Volume 43, Issue 1, Page(s) 1–15

Abstract: Building an immune system is a monumental task critical to the survival of the fetus and newborn. A functional fetal immune system must complement the maternal immune system in handling in utero infection; abstain from damaging non-self-reactions that ... ...

Abstract	Building an immune system is a monumental task critical to the survival of the fetus and newborn. A functional fetal immune system must complement the maternal immune system in handling in utero infection; abstain from damaging non-self-reactions that would compromise the materno-fetal interface; mobilize in response to infection and equip mucosal tissues for pathogen exposure at birth. There is growing appreciation that immune cells also have noncanonical roles in development and specifically may contribute to tissue morphogenesis. In this review we detail how hematopoietic and lymphoid organs jointly establish cellular constituents of the immune system; how these constituents are organized in 2 mucosal sites-gut and lung-where early life immune function has long-term consequences for health; and how exemplar diseases of prematurity and inborn errors of immunity reveal dominant pathways in prenatal immunity.
MeSH term(s)	Infant, Newborn ; Pregnancy ; Female ; Humans ; Immune System ; Fetus
Language	English
Publishing date	2022-10-28
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	92606-1
ISSN	1557-8607 ; 0889-8561
ISSN (online)	1557-8607
ISSN	0889-8561
DOI	10.1016/j.iac.2022.05.009
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Article: A multifunctional bispecific antibody against Pseudomonas aeruginosa as a potential therapeutic strategy.

Haq, Iram J / Gardner, Aaron / Brodlie, Malcolm

Annals of translational medicine

2016 Volume 4, Issue 1, Page(s) 12

Language	English
Publishing date	2016-02-04
Publishing country	China
Document type	Journal Article
ZDB-ID	2893931-1
ISSN	2305-5847 ; 2305-5839
ISSN (online)	2305-5847
ISSN	2305-5839
DOI	10.3978/j.issn.2305-5839.2015.10.10
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Article ; Online: Ataluren in cystic fibrosis: development, clinical studies and where are we now?

Zainal Abidin, Noreen / Haq, Iram J / Gardner, Aaron I / Brodlie, Malcolm

Expert opinion on pharmacotherapy

2017 Volume 18, Issue 13, Page(s) 1363–1371

Abstract: Introduction: Cystic fibrosis (CF) is one of the most common genetically-acquired life-limiting conditions worldwide. The underlying defect is dysfunction of the cystic fibrosis transmembrane-conductance regulator (CFTR) which leads to progressive lung ... ...

Abstract	Introduction: Cystic fibrosis (CF) is one of the most common genetically-acquired life-limiting conditions worldwide. The underlying defect is dysfunction of the cystic fibrosis transmembrane-conductance regulator (CFTR) which leads to progressive lung disease and other multi-system effects. Around 10% of people with CF have a class I nonsense mutation that leads to production of shortened CFTR due to a premature termination codon (PTC). Areas covered: We discuss the discovery of the small-molecule drug ataluren, which in vitro has been shown to allow read-through of PTCs and facilitate synthesis of full-length protein. We review clinical studies that have been performed involving ataluren in CF. Early-phase short-term cross-over studies showed improvement in nasal potential difference. A follow-up phase III randomised controlled trial did not show a significant difference for the primary outcome of lung function, however a post-hoc analysis suggested possible benefit in patients not receiving tobramycin. A further randomised controlled trial in patients not receiving tobramycin has been reported as showing no benefit but has not yet been published in full peer-reviewed form. Expert opinion: A small-molecule approach to facilitate read-through of PTCs in nonsense mutations makes intuitive sense. However, at present there is no high-quality evidence of clinical efficacy for ataluren in people with CF.
MeSH term(s)	Codon, Nonsense/genetics ; Cystic Fibrosis/drug therapy ; Cystic Fibrosis/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/biosynthesis ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Drug Discovery ; Humans ; Oxadiazoles/administration & dosage ; Oxadiazoles/pharmacokinetics ; Oxadiazoles/therapeutic use ; Randomized Controlled Trials as Topic ; Treatment Outcome
Chemical Substances	CFTR protein, human ; Codon, Nonsense ; Oxadiazoles ; Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6) ; ataluren (K16AME9I3V)
Language	English
Publishing date	2017-08-01
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2001535-5
ISSN	1744-7666 ; 1465-6566
ISSN (online)	1744-7666
ISSN	1465-6566
DOI	10.1080/14656566.2017.1359255
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Article ; Online: Community acquired pneumonia in children.

Haq, Iram J / Battersby, Alexandra C / Eastham, Katherine / McKean, Michael

BMJ (Clinical research ed.)

2017 Volume 356, Page(s) j686

MeSH term(s)	Anti-Bacterial Agents/therapeutic use ; Child ; Child, Preschool ; Community-Acquired Infections/diagnosis ; Community-Acquired Infections/drug therapy ; Community-Acquired Infections/epidemiology ; Community-Acquired Infections/prevention & control ; Europe/epidemiology ; Humans ; Incidence ; Infant ; Pneumococcal Vaccines ; Pneumonia, Bacterial/diagnosis ; Pneumonia, Bacterial/drug therapy ; Pneumonia, Bacterial/epidemiology ; Pneumonia, Bacterial/prevention & control
Chemical Substances	Anti-Bacterial Agents ; Pneumococcal Vaccines
Language	English
Publishing date	2017-03-02
Publishing country	England
Document type	Journal Article ; Practice Guideline ; Video-Audio Media
ZDB-ID	1362901-3
ISSN	1756-1833 ; 0959-8154 ; 0959-8146 ; 0959-8138 ; 0959-535X ; 1759-2151
ISSN (online)	1756-1833
ISSN	0959-8154 ; 0959-8146 ; 0959-8138 ; 0959-535X ; 1759-2151
DOI	10.1136/bmj.j686
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Article ; Online: Trends in nontuberculous mycobacteria infection in children and young people with cystic fibrosis.

Abidin, Noreen Zainal / Gardner, Aaron Ions / Robinson, Hannah-Louise / Haq, Iram J / Thomas, Matthew F / Brodlie, Malcolm

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

2020 Volume 20, Issue 5, Page(s) 737–741

Abstract: Nontuberculous mycobacteria (NTM) infection is of growing concern in cystic fibrosis (CF). UK CF Registry data were analyzed from 2016 to 2018. Prevalence of infection stabilized in the pediatric age-group during this period but remained substantially ... ...

Abstract	Nontuberculous mycobacteria (NTM) infection is of growing concern in cystic fibrosis (CF). UK CF Registry data were analyzed from 2016 to 2018. Prevalence of infection stabilized in the pediatric age-group during this period but remained substantially higher than in 2010. Allergic bronchopulmonary aspergillosis and Pseudomonas aeruginosa infection were associated with NTM infection.
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; Cystic Fibrosis/microbiology ; Female ; Humans ; Male ; Mycobacterium Infections, Nontuberculous/epidemiology ; Mycobacterium Infections, Nontuberculous/microbiology ; Prevalence ; United Kingdom/epidemiology
Language	English
Publishing date	2020-09-16
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2084724-5
ISSN	1873-5010 ; 1569-1993
ISSN (online)	1873-5010
ISSN	1569-1993
DOI	10.1016/j.jcf.2020.09.007
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Article ; Online: Supraventricular tachycardia precipitated by a peripherally inserted central catheter in an infant with gastroschisis.

Thyoka, Mandela / Haq, Iram / Hosie, Gareth

BMJ case reports

2014 Volume 2014

Abstract: Gastroschisis is a common congenital abdominal wall defect requiring surgical correction in early neonatal life. The time to full enteral feeds among infants with gastroschisis is variable. Gastroschisis remains a common surgical cause of intestinal ... ...

Abstract	Gastroschisis is a common congenital abdominal wall defect requiring surgical correction in early neonatal life. The time to full enteral feeds among infants with gastroschisis is variable. Gastroschisis remains a common surgical cause of intestinal failure in neonates. Peripherally inserted central catheters (PICC) are commonly used to provide long-term venous access for parenteral nutrition during the time enteral feeds are being slowly established. The PICC is placed under fluoroscopic guidance with the distal end of the catheter usually placed at the junction of the superior vena cava with the right atrium. In rare circumstances, the catheter tip may advance into intracardiac chambers, precipitating supraventricular re-entrant tachycardia. We report a case of an infant who was antenatally diagnosed with uncomplicated gastroschisis in whom a supraventricular tachycardia was precipitated by the PICC in the right atrium.
MeSH term(s)	Catheterization, Central Venous/adverse effects ; Catheterization, Peripheral/adverse effects ; Catheters, Indwelling ; Electrocardiography ; Gastroschisis/complications ; Gastroschisis/therapy ; Humans ; Infant, Newborn ; Male ; Parenteral Nutrition/methods ; Tachycardia, Supraventricular/etiology
Language	English
Publishing date	2014-02-25
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1757-790X
ISSN (online)	1757-790X
DOI	10.1136/bcr-2013-201203
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Article ; Online: Targeted therapies to improve CFTR function in cystic fibrosis.

Brodlie, Malcolm / Haq, Iram J / Roberts, Katie / Elborn, J Stuart

Genome medicine

2015 Volume 7, Page(s) 101

Abstract: Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fibrosis transmembrane conductance regulator ( ... ...

Abstract	Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that codes for an apical membrane chloride channel principally expressed by epithelial cells. Conventional approaches to cystic fibrosis care involve a heavy daily burden of supportive treatments to combat lung infection, help clear airway secretions and maintain nutritional status. In 2012, a new era of precision medicine in cystic fibrosis therapeutics began with the licensing of a small molecule, ivacaftor, which successfully targets the underlying defect and improves CFTR function in a subgroup of patients in a genotype-specific manner. Here, we review the three main targeted approaches that have been adopted to improve CFTR function: potentiators, which recover the function of CFTR at the apical surface of epithelial cells that is disrupted in class III and IV genetic mutations; correctors, which improve intracellular processing of CFTR, increasing surface expression, in class II mutations; and production correctors or read-through agents, which promote transcription of CFTR in class I mutations. The further development of such approaches offers great promise for future therapeutic strategies in cystic fibrosis.
MeSH term(s)	Aminophenols/therapeutic use ; Cystic Fibrosis/drug therapy ; Cystic Fibrosis/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism ; Humans ; Molecular Targeted Therapy ; Quinolones/therapeutic use
Chemical Substances	Aminophenols ; CFTR protein, human ; Quinolones ; Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6) ; ivacaftor (1Y740ILL1Z)
Language	English
Publishing date	2015-09-24
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2484394-5
ISSN	1756-994X ; 1756-994X
ISSN (online)	1756-994X
ISSN	1756-994X
DOI	10.1186/s13073-015-0223-6
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