[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100623884":3},{"organization":4,"armGroups":7,"interventions":24,"overallOfficials":39,"centralContacts":44,"locations":51,"responsibleParty":67,"collaborators":69,"id":76,"slug":77,"hasResults":78,"nctId":79,"briefTitle":80,"officialTitle":81,"acronym":82,"eligibilityCriteria":83,"healthyVolunteers":84,"sex":85,"minAge":86,"maxAge":10,"enrollmentInfo":87,"targetDuration":10,"studyType":90,"phases":10,"briefSummary":91,"conditions":92,"keywords":95,"overallStatus":103,"whyStopped":10,"lastUpdateSubmitDate":104,"lastUpdatePostDateStruct":105,"startDateStruct":108,"completionDateStruct":110,"leadSponsor":112,"locationsCount":113},{"fullName":5,"class":6},"Royal Brompton & Harefield NHS Foundation Trust","OTHER",[8,14,18],{"label":9,"type":10,"description":11,"interventionNames":12},"Group A - Difficult Cystic Fibrosis Diagnosis Cohort",null,"'Difficult-to-diagnose' patients will be recruited from the 'Difficult CF Diagnosis' service via our established referral pathway. These patients will have non-diagnostic first line CFTR testing (individuals who do not fulfil CF diagnostic criteria \\[2 CF-causing CFTR gene variants and\u002For sweat chloride concentration ≥60 mmol\u002FL\\]) . These patients will be 16 years or older and will be willing to undergo a rectal biopsy.",[13],"Procedure: Rectal Biopsy",{"label":15,"type":10,"description":16,"interventionNames":17},"Group B - Cystic Fibrosis Patient Cohort","Patients aged 16 years or older with a confirmed Cystic Fibrosis diagnosis. They would need to be willing to undergo a rectal biopsy.",[13],{"label":19,"type":10,"description":20,"interventionNames":21},"Group C - Non-Cystic Fibrosis Patient Cohort","Patients aged 16 years or older without a Cystic Fibrosis or CFTR-related disorder diagnosis who would be willing to undergo a rectal biopsy for this study (if undergoing a lower GI endoscopy for other purposes).",[22,23],"Procedure: Rectal biopsy taken opportunistically during endoscopy procedure for other reasons.","Genetic: Blood test for CFTR Genotyping",[25,30,34],{"type":26,"name":27,"description":28,"armGroupLabels":29,"otherNames":10},"PROCEDURE","Rectal Biopsy","Rectal biopsy sampling will be performed using either forceps or a suction device according to the method of Vonk et al (2020). Rectal biopsies will be obtained by trained and competent personnel in an appropriate setting, patients recruited will be fully informed and will have provided written consent. Once biopsy samples have been taken the resulting tissue will be processed, stored and transported using established laboratory protocols. The rectal tissue collected will be used to perform intestinal current measurements and create organoids or 'mini-organs' to allow CFTR protein function to be further characterised.",[9,15],{"type":26,"name":31,"description":32,"armGroupLabels":33,"otherNames":10},"Rectal biopsy taken opportunistically during endoscopy procedure for other reasons.","Rectal Biopsy tissue samples will be taken opportunistically for this patient cohort who are undergoing an endoscopy for other reasons. Rectal biopsies will be obtained by trained and competent personnel in an appropriate setting, patients recruited will be fully informed and will have provided written consent. The rectal tissue collected will be used to perform intestinal current measurements and create organoids or 'mini-organs' to allow CFTR protein function to be further characterised.",[19],{"type":35,"name":36,"description":37,"armGroupLabels":38,"otherNames":10},"GENETIC","Blood test for CFTR Genotyping","Blood test for CFTR genotyping will be taken for Group C patients to ensure these patients are 'healthy controls' and that they do not have any CFTR gene variants associated with CF.",[19],[40],{"name":41,"affiliation":42,"role":43},"Nicholas J Simmonds","Royal Brompton Hospital and Imperial College London","PRINCIPAL_INVESTIGATOR",[45],{"name":46,"role":47,"phone":48,"phoneExt":49,"email":50},"Emma C Russell-Jones, MBBS","CONTACT","02073528121","88940","emma.russell-jones@nhs.net",[52],{"facility":53,"status":10,"city":54,"state":10,"zip":55,"country":56,"countryCode":57,"cosmosGeoPoint":58,"geoPoint":63,"contacts":64},"Royal Brompton Hospital","London","SW36NP","United Kingdom","UK",{"type":59,"coordinates":60},"Point",[61,62],-0.12574,51.50853,{"lat":62,"lon":61},[65],{"name":66,"role":47,"phone":10,"phoneExt":10,"email":50},"Emma Russell-Jones, MBBS",{"type":68,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[70,72,74],{"name":71,"class":6},"King's College London",{"name":73,"class":6},"UMC Utrecht",{"name":75,"class":6},"Imperial College London","100623884","a-prospective-study-of-advanced-diagnostics-in-people-with-an-unclear-diagnosis-of-cystic-fibrosis-100623884",false,"NCT07402434","A Prospective Study of Advanced Diagnostics in People With an Unclear Diagnosis of Cystic Fibrosis","Advanced Diagnostic Validation and Novel Clinical Evaluation Across the CFTR Spectrum (ADVANCE-CFTR): a Prospective Study of CFTR Functional Assays, Including Rectal Organoids, to Improve the Accuracy of Diagnosing Cystic Fibrosis.","ADVANCE-CFTR","Inclusion Criteria:\n\nGroup A: Difficult Cystic Fibrosis Diagnosis Cohort\n\nInclusion criteria:\n\n1. Patients with difficult-to-diagnose CF\\*\n2. Adults (≥16y)\n3. Willing to undergo rectal biopsy\n4. Able to comply with the study\n\n   * Definition: Non-diagnostic first line CFTR testing (individuals who do not fulfil CF diagnostic criteria \\[2 CF-causing CFTR variants and\u002For sweat chloride concentration ≥60 mmol\u002FL\\]). Of note, there are some individuals with \\\u003C2 CF-causing CFTR variants after extended CFTR genetic analysis but with a SCC \\>60mmol\u002FL. Expansion of the patient pool to include these is permissible.\n\nGroup B: Cystic Fibrosis Patient Cohort\n\nInclusion criteria:\n\n1. Patients with confirmed Cystic Fibrosis\n2. Adults (≥16y)\n3. Willing to undergo rectal biopsy for this study\n4. Able to comply with the study\n\nGroup C: Non-Cystic Fibrosis Patient Cohort\n\nInclusion criteria:\n\n1. Patients without Cystic Fibrosis or CFTR-related disorder\n2. Adults (≥16y)\n3. Willing to undergo rectal biopsy for this study (if undergoing a lower GI endoscopy for other purposes)\n4. Able to comply with the study\n\nExclusion Criteria:\n\nGroup A: Difficult Cystic Fibrosis Diagnosis Cohort\n\nExclusion criteria:\n\n1. Contra-indication to rectal biopsy (e.g. significant bleeding diathesis)\n2. History of lung transplantation\n3. Receiving CFTR modulator treatment\n4. Current participation (or participation within one month of enrolment) in a clinical trial of an investigational medicinal product which affects CFTR function (e.g. CFTR modulators, genetic therapies)\n5. Female who is pregnant or breastfeeding\n6. Unable to provide informed consent\n\nGroup B: Cystic Fibrosis Patient Cohort\n\nExclusion criteria:\n\n1. Contra-indication to rectal biopsy (e.g. significant bleeding diathesis)\n2. Current participation (or participation within one month of enrolment) in a clinical trial of an investigational medicinal product which affects CFTR function (e.g. CFTR modulators, genetic therapies)\n3. Female who is pregnant or breastfeeding\n4. Unable to provide informed consent\n5. Exclude all subjects where diagnosis of CF is in doubt\n\nGroup C: Non-Cystic Fibrosis Patient Cohort\n\nExclusion criteria:\n\n1. Contra-indication to rectal biopsy (e.g. significant bleeding diathesis)\n2. Female who is pregnant or breastfeeding\n3. Unable to provide informed consent",true,"ALL","16 Years",{"count":88,"type":89},80,"ESTIMATED","OBSERVATIONAL","Sometimes it is very difficult to tell if someone has cystic fibrosis (CF), especially when they have rare CF genes. Without this certainty, they are unlikely to get the correct treatment so their health may be affected. More accurate ways to test for CF are therefore needed in this situation. The aim of this study is to develop a more accurate test using what are called \"organoids\" or \"mini organs.\" Organoids are grown in the laboratory from a small piece of gut tissue. As they have the person's exact genes, they can show if the CF gene (\"CFTR\") is working correctly or not and thus if the person has CF. The investigators will compare the organoid response with the current more established tests, such as the sweat test and CF genetics, and other recognised specialist tests called nasal potential difference (NPD) and intestinal current measurement (ICM). The gut tissue is usually taken by a quick, relatively painless, outpatient procedure (rectal biopsy). The additional benefit of organoids is that they can also help us to work out the best treatment for that individual by testing how well the gut tissue responds to different drugs in the laboratory. The investigators wish to carry out this research to prove that gut organoids are a better way to test for CF in this situation. The goal will be to diagnose people faster and for them to get better treatment quicker, both key for leading a longer and healthier life.",[93,94],"Cystic Fibrosis (CF)","CFTR-related Disorders",[96,97,98,93,99,100,101,102],"CFTR-related disorders","Advanced Diagnostics","Personalised medicine","Nasal potential difference (NPD)","Intestinal current measurements (ICM)","Organoids","Sweat chloride concentration (SCC)","NOT_YET_RECRUITING","2026-02-12",{"date":106,"type":107},"2026-02-17","ACTUAL",{"date":109,"type":89},"2026-02-02",{"date":111,"type":89},"2028-09-01",{"name":5,"class":6},1]