{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:33:04Z","timestamp":1760059984518,"version":"build-2065373602"},"reference-count":37,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T00:00:00Z","timestamp":1753660800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Biologix"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Cystinosis is a rare systemic disease characterized by the accumulation of cystine in tissues, leading to multi-organ damage. Infantile nephropathic cystinosis is the dominant and severe form of cystinosis with critical renal manifestations that require kidney transplantation at an early age if left untreated. Cysteamine, the lifelong cystine-depleting therapy, is the mainstay treatment of nephropathic cystinosis. Cysteamine prevents cystine crystal formation and delays disease progression. While the initially introduced cysteamine consists of an immediate-release (IR) formulation, a delayed-release (DR) formulation has been developed with a simplified dosing regimen (Q12H instead of Q6H) and an improved quality of life while maintaining comparable efficacy. Due to the rare incidence of the disease and lack of international guidelines, diagnosis and treatment initiation are oftentimes delayed, leading to a poor prognosis. Pediatric and adult nephrologists from Kuwait, Saudi Arabia, the United Arab Emirates (UAE), and Qatar, in addition to one international expert from Amsterdam, convened to share their clinical experience, reflecting on the challenges encountered and therapeutic approaches followed in the management of nephropathic cystinosis in the Gulf Cooperation Council (GCC) region. Experts completed a multiple-choice questionnaire and engaged in structured discussions, where they shed light on gaps and limitations with regard to diagnostic tests and criteria to ensure early diagnosis and timely treatment initiation. Based on available literature, experts suggested an algorithm to help guide nephropathic cystinosis management in the GCC. It is highly recommended for patients who do not tolerate IR-cysteamine and do not adhere to IR-cysteamine treatment to switch to DR-cysteamine. Given the systemic nature of the disease, a multi-disciplinary approach is required for optimal disease management.<\/jats:p>","DOI":"10.3390\/children12080992","type":"journal-article","created":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T14:50:03Z","timestamp":1753714203000},"page":"992","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region"],"prefix":"10.3390","volume":"12","author":[{"given":"Hassan","family":"Aleid","sequence":"first","affiliation":[{"name":"Department of Kidney and Pancreas Transplant, King Faisal Specialist Hospital and Research Centre, Riyadh P.O. Box 3354, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Turki","family":"AlShareef","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh P.O. Box 3354, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9645-5127","authenticated-orcid":false,"given":"Ahmad","family":"Kaddourah","sequence":"additional","affiliation":[{"name":"Sidra Medical and Research Centre, Doha P.O. Box 26999, Qatar"},{"name":"Weill Cornell Medicine-Qatar, Doha P.O. Box 24811, Qatar"},{"name":"College of Medicine, Qatar University, Doha P.O. Box 2713, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Zeinelabdin","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Pediatrics, East Jeddah General Hospital, Jeddah 8742, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0009-5823","authenticated-orcid":false,"given":"Mohamad M.","family":"Alkadi","sequence":"additional","affiliation":[{"name":"Weill Cornell Medicine-Qatar, Doha P.O. Box 24811, Qatar"},{"name":"Division of Nephrology, Department of Medicine, Hamad Medical Corporation, Doha P.O. Box 3050, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Badria","family":"Al Ghaithi","sequence":"additional","affiliation":[{"name":"Department of Child Health, Royal Hospital, Muscat P.O. Box 1331, Oman"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasser","family":"Abdelkawy","sequence":"additional","affiliation":[{"name":"Ministry of Health, P.O. Box 43787, Hawalli 32052, Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6072-9659","authenticated-orcid":false,"given":"Eihab","family":"Al Khasawneh","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Sheikh Khalifa Medical City, Abu Dhabi 51900, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Levtchenko","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Emma Children\u2019s Hospital, Amsterdam University Medical Centre, 1105 AZ Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4291-8536","authenticated-orcid":false,"given":"Khalid","family":"Alhasan","sequence":"additional","affiliation":[{"name":"Department of Kidney and Pancreas Transplant, King Faisal Specialist Hospital and Research Centre, Riyadh P.O. Box 3354, Saudi Arabia"},{"name":"Pediatric Department, College of Medicine, King Saud University, P.O. Box 800, Riyadh 11421, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s00467-012-2242-5","article-title":"Cystinosis: The evolution of a treatable disease","volume":"28","author":"Nesterova","year":"2013","journal-title":"Pediatr. Nephrol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1056\/NEJMra020552","article-title":"Cystinosis","volume":"347","author":"Gahl","year":"2002","journal-title":"N. Engl. J. Med."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"B\u00e4umner, S., and Weber, L.T. (2018). Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease. Front. Pediatr., 6.","DOI":"10.3389\/fped.2018.00058"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"iv87","DOI":"10.1093\/ndt\/gfu090","article-title":"Nephropathic cystinosis: An international consensus document","volume":"29","author":"Emma","year":"2014","journal-title":"Nephrol. Dial. Transpl."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/s13023-016-0426-y","article-title":"Cystinosis: A review","volume":"11","author":"Elmonem","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1006\/mgme.2000.3062","article-title":"Corneal crystals in nephropathic cystinosis: Natural history and treatment with cysteamine eyedrops","volume":"71","author":"Gahl","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1002\/jimd.12134","article-title":"Management of bone disease in cystinosis: Statement from an international conference","volume":"42","author":"Hohenfellner","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"166","DOI":"10.15406\/jpcpy.2020.11.00692","article-title":"Consanguineous marriage in the Arab societies","volume":"11","year":"2020","journal-title":"J. Psychol. Clin. Psychiatry"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1007\/s11469-019-00123-z","article-title":"Emirati Women\u2019s Experiences of Consanguineous Marriage: A Qualitative Exploration of Attitudes, Health Challenges, and Coping Styles","volume":"18","year":"2020","journal-title":"Int. J. Ment. Health Addict."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Abdu, Y., Ahmed, K., Ibrahim, M.I.M., Abdou, M., Ali, A., Alsiddig, H., Selim, N.A., and Yassin, M.A. (2023). Perception of consanguineous marriage among the qatari population. Front. Public Health, 11.","DOI":"10.3389\/fpubh.2023.1228010"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"297","DOI":"10.2147\/IJNRD.S37603","article-title":"Improving the prognosis of nephropathic cystinosis","volume":"7","author":"Besouw","year":"2014","journal-title":"Int. J. Nephrol. Renov. Dis."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1016\/j.kint.2016.01.033","article-title":"Controversies and research agenda in nephropathic cystinosis: Conclusions from a \u201cKidney Disease: Improving Global Outcomes\u201d (KDIGO) Controversies Conference","volume":"89","author":"Langman","year":"2016","journal-title":"Kidney Int."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s00467-010-1627-6","article-title":"Cystinosis: Practical tools for diagnosis and treatment","volume":"26","author":"Wilmer","year":"2011","journal-title":"Pediatr. Nephrol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1007\/s00467-007-0650-8","article-title":"Nephropathic cystinosis: Late complications of a multisystemic disease","volume":"23","author":"Nesterova","year":"2008","journal-title":"Pediatr. Nephrol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2465","DOI":"10.1007\/s00467-009-1185-y","article-title":"Time before isolating cystinotic leukocytes affects reliability of cystine determination","volume":"24","author":"Fidler","year":"2009","journal-title":"Pediatr. Nephrol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1016\/j.kint.2021.06.019","article-title":"An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis","volume":"100","author":"Emma","year":"2021","journal-title":"Kidney Int."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.nefro.2015.05.019","article-title":"Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis","volume":"35","author":"Ariceta","year":"2015","journal-title":"Nefrologia"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1093\/ckj\/sfac099","article-title":"Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients","volume":"15","author":"Levtchenko","year":"2022","journal-title":"Clin. Kidney J."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/j.molmed.2021.04.004","article-title":"Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis","volume":"27","author":"Jamalpoor","year":"2021","journal-title":"Trends Mol. Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"242","DOI":"10.7326\/0003-4819-147-4-200708210-00006","article-title":"Nephropathic cystinosis in adults: Natural history and effects of oral cysteamine therapy","volume":"147","author":"Gahl","year":"2007","journal-title":"Ann. Intern. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/ki.2011.277","article-title":"Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults","volume":"81","author":"Niaudet","year":"2012","journal-title":"Kidney Int."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1007\/s00467-005-2052-0","article-title":"Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis","volume":"21","author":"Levtchenko","year":"2006","journal-title":"Pediatr. Nephrol."},{"key":"ref_23","unstructured":"Agency, E.M. (2017, February 22). Cystadrops. Available online: https:\/\/www.ema.europa.eu\/en\/medicines\/human\/EPAR\/cystadrops."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Mart\u00edn-Sabroso, C., Alonso-Gonz\u00e1lez, M., Fern\u00e1ndez-Carballido, A., Aparicio-Blanco, J., C\u00f3rdoba-D\u00edaz, D., Navarro-Garc\u00eda, F., C\u00f3rdoba-D\u00edaz, M., and Torres-Su\u00e1rez, A.I. (2021). Limitations and Challenges in the Stability of Cysteamine Eye Drop Compounded Formulations. Pharmaceuticals, 15.","DOI":"10.3390\/ph15010002"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.2215\/CJN.12321211","article-title":"A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: Effectiveness on white blood cell cystine levels and comparison of safety","volume":"7","author":"Langman","year":"2012","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1186\/s13023-021-01991-2","article-title":"A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis","volume":"16","author":"Klank","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/j.jpeds.2014.05.013","article-title":"Quality of life is improved and kidney function preserved in patients with nephropathic cystinosis treated for 2 years with delayed-release cysteamine bitartrate","volume":"165","author":"Langman","year":"2014","journal-title":"J. Pediatr."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s00467-016-3438-x","article-title":"Switching from immediate- to extended-release cysteamine in nephropathic cystinosis patients: A retrospective real-life single-center study","volume":"32","author":"Kanzelmeyer","year":"2017","journal-title":"Pediatr. Nephrol."},{"key":"ref_29","first-page":"66","article-title":"Cysteamine bitartrate delayed-release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open-label study of treatment-na\u00efve patients <6\u2009years of age with nephropathic cystinosis","volume":"63","author":"Vaisbich","year":"2022","journal-title":"JIMD Rep."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"3671","DOI":"10.1007\/s00467-023-06005-w","article-title":"The effects of transitioning from immediate release to extended release cysteamine therapy in Norwegian patients with nephropathic cystinosis: A retrospective study","volume":"38","author":"Bjerre","year":"2023","journal-title":"Pediatr. Nephrol."},{"key":"ref_31","unstructured":"(2007, October 16). Cystagon EU Summary of Product Characteristics. Available online: https:\/\/www.ema.europa.eu\/en\/documents\/product-information\/cystagon-epar-product-information_en.pdf."},{"key":"ref_32","unstructured":"(2024, January 01). Taking Procysbi Designed to Deliver Continuous Control. Available online: https:\/\/www.procysbi.com\/taking-procysbi."},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Klank, S., van Stein, C., Gr\u00fcneberg, M., Ottolenghi, C., Rauwolf, K.K., Grebe, J., Reunert, J., Harms, E., and Marquardt, T. (2023). Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients. Pharmaceutics, 15.","DOI":"10.3390\/pharmaceutics15071851"},{"key":"ref_34","unstructured":"(2024, January 01). PROCYSBI Gastro-Resistant Hard Capsules\u2014EU Summary of Product Characteristics. Available online: https:\/\/www.ema.europa.eu\/en\/documents\/product-information\/procysbi-epar-product-information_en.pdf."},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Ariceta, G., Santos, F., Mu\u00f1iz, A.L., Hermida, A., Matoses, M.L., Ventura, A., Martin-Moreno, P.L., Gonz\u00e1lez, E., Acu\u00f1a, L., and Giner, E. (2024). Switching from immediate- to extended-release cysteamine in patients with nephropathic cystinosis: From clinical trials to clinical practice. Clin. Kidney J., 17.","DOI":"10.1093\/ckj\/sfae049"},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Raina, R., Wang, J., and Krishnappa, V. (2017). Structured Transition Protocol for Children with Cystinosis. Front. Pediatr., 5.","DOI":"10.3389\/fped.2017.00191"},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Dabirzadeh, A., Dahhou, M., Zhang, X., Sapir-Pichhadze, R., Cardinal, H., White, M., Johnston, O., Blydt-Hansen, T.D., Tibbles, L.A., and Hamiwka, L. (2021). Care processes and structures associated with higher medication adherence in adolescent and young adult transplant recipients. Pediatr. Transplant., 25.","DOI":"10.1111\/petr.14106"}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/12\/8\/992\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:17:15Z","timestamp":1760033835000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/12\/8\/992"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,28]]},"references-count":37,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2025,8]]}},"alternative-id":["children12080992"],"URL":"https:\/\/doi.org\/10.3390\/children12080992","relation":{},"ISSN":["2227-9067"],"issn-type":[{"type":"electronic","value":"2227-9067"}],"subject":[],"published":{"date-parts":[[2025,7,28]]}}}