Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective

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dc.contributor.authorPignolo, Robert J
dc.contributor.authorBedford-Gay, Christopher
dc.contributor.authorCali, Amanda
dc.contributor.authorDavis, Michelle
dc.contributor.authorDelai, Patricia L R
dc.contributor.authorGonzales, Kristi
dc.contributor.authorHixson, Candace
dc.contributor.authorKent, Alastair
dc.contributor.authorNewport, Hope
dc.contributor.authorRobert, Manuel
dc.contributor.authorScott, Christiaan
dc.contributor.authorKaplan, Frederick S
dc.date.accessioned2022-04-26T08:25:20Z
dc.date.available2022-04-26T08:25:20Z
dc.date.issued2022-04-18
dc.date.updated2022-04-24T03:24:02Z
dc.description.abstractBackground Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, disabling genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of soft and connective tissues. Assiduous attention to the unmet needs of this patient community is crucial to prevent potential iatrogenic harm and optimize care for individuals with FOP. Objective To gather international expert opinion and real-world experience on the key challenges for individuals with FOP and their families, highlight critical gaps in care, communication, and research, and provide recommendations for improvement. Methods An international group of expert clinicians, patients and patient advocates, caregivers and representatives from the international FOP community participated in a virtual, half-day meeting on 22 March 2021 to discuss the key unmet needs of individuals with FOP. Results Individuals with FOP often face the frustration of long diagnostic journeys, the burden of self-advocacy and the navigation of novel care pathways. Globally, patients with FOP are also confronted with inequities in access to diagnosis and specialist care, and consequently, unequal access to registries, clinical trials, and essential support from patient associations. Organizations such as the International FOP Association, the International Clinical Council on FOP, and national FOP organizations work to provide information, facilitate access to expert clinical guidance, nurture patient empowerment, fund FOP research and/or foster meaningful collaborations with the research community. The non-profit Tin Soldiers Global FOP Patient Search program aims to identify and provide a pathway to diagnosis and care for individuals with FOP, particularly in underserved communities. Such global initiatives and the increasingly widespread use of telemedicine and digital platforms offer opportunities to improve vital access to care and research. Conclusions This multi-stakeholder perspective highlights some of the unmet needs of individuals with FOP and their families. Regional and international organizations play an important role in improving the quality of life of those they reach in the global FOP community. However, globally, fundamental issues remain around raising awareness of FOP among healthcare professionals, identifying individuals with FOP, reducing time to diagnosis, and ensuring access to best practice in care, support, and clinical research. Medical writing support was industry-sponsored.en_US
dc.identifier.apacitationPignolo, R. J., Bedford-Gay, C., Cali, A., Davis, M., Delai, P. L. R., Gonzales, K., ... Kaplan, F. S. (2022). Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective. <i>Orphanet Journal of Rare Diseases</i>, 17(1), 168. http://hdl.handle.net/11427/36403en_ZA
dc.identifier.chicagocitationPignolo, Robert J, Christopher Bedford-Gay, Amanda Cali, Michelle Davis, Patricia L R Delai, Kristi Gonzales, Candace Hixson, et al "Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective." <i>Orphanet Journal of Rare Diseases</i> 17, 1. (2022): 168. http://hdl.handle.net/11427/36403en_ZA
dc.identifier.citationPignolo, R.J., Bedford-Gay, C., Cali, A., Davis, M., Delai, P.L.R., Gonzales, K., Hixson, C. & Kent, A. et al. 2022. Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective. <i>Orphanet Journal of Rare Diseases.</i> 17(1):168. http://hdl.handle.net/11427/36403en_ZA
dc.identifier.ris TY - Journal Article AU - Pignolo, Robert J AU - Bedford-Gay, Christopher AU - Cali, Amanda AU - Davis, Michelle AU - Delai, Patricia L R AU - Gonzales, Kristi AU - Hixson, Candace AU - Kent, Alastair AU - Newport, Hope AU - Robert, Manuel AU - Scott, Christiaan AU - Kaplan, Frederick S AB - Background Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, disabling genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of soft and connective tissues. Assiduous attention to the unmet needs of this patient community is crucial to prevent potential iatrogenic harm and optimize care for individuals with FOP. Objective To gather international expert opinion and real-world experience on the key challenges for individuals with FOP and their families, highlight critical gaps in care, communication, and research, and provide recommendations for improvement. Methods An international group of expert clinicians, patients and patient advocates, caregivers and representatives from the international FOP community participated in a virtual, half-day meeting on 22 March 2021 to discuss the key unmet needs of individuals with FOP. Results Individuals with FOP often face the frustration of long diagnostic journeys, the burden of self-advocacy and the navigation of novel care pathways. Globally, patients with FOP are also confronted with inequities in access to diagnosis and specialist care, and consequently, unequal access to registries, clinical trials, and essential support from patient associations. Organizations such as the International FOP Association, the International Clinical Council on FOP, and national FOP organizations work to provide information, facilitate access to expert clinical guidance, nurture patient empowerment, fund FOP research and/or foster meaningful collaborations with the research community. The non-profit Tin Soldiers Global FOP Patient Search program aims to identify and provide a pathway to diagnosis and care for individuals with FOP, particularly in underserved communities. Such global initiatives and the increasingly widespread use of telemedicine and digital platforms offer opportunities to improve vital access to care and research. Conclusions This multi-stakeholder perspective highlights some of the unmet needs of individuals with FOP and their families. Regional and international organizations play an important role in improving the quality of life of those they reach in the global FOP community. However, globally, fundamental issues remain around raising awareness of FOP among healthcare professionals, identifying individuals with FOP, reducing time to diagnosis, and ensuring access to best practice in care, support, and clinical research. Medical writing support was industry-sponsored. DA - 2022-04-18 DB - OpenUCT DP - University of Cape Town IS - 1 J1 - Orphanet Journal of Rare Diseases KW - Fibrodysplasia ossificans progressiva KW - FOP KW - Unmet needs KW - Patient care KW - Diagnosis KW - Health policy KW - Rare disease LK - https://open.uct.ac.za PY - 2022 T1 - Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective TI - Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective UR - http://hdl.handle.net/11427/36403 ER - en_ZA
dc.identifier.urihttps://doi.org/10.1186/s13023-022-02224-w
dc.identifier.urihttp://hdl.handle.net/11427/36403
dc.identifier.vancouvercitationPignolo RJ, Bedford-Gay C, Cali A, Davis M, Delai PLR, Gonzales K, et al. Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective. Orphanet Journal of Rare Diseases. 2022;17(1):168. http://hdl.handle.net/11427/36403.en_ZA
dc.language.isoenen_US
dc.language.rfc3066en
dc.publisher.departmentDepartment of Paediatrics and Child Healthen_US
dc.publisher.facultyFaculty of Health Sciencesen_US
dc.rights.holderThe Author(s)
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.sourceOrphanet Journal of Rare Diseasesen_US
dc.source.journalissue1en_US
dc.source.journalvolume17en_US
dc.source.pagination168en_US
dc.source.urihttps://ojrd.biomedcentral.com/
dc.subjectFibrodysplasia ossificans progressivaen_US
dc.subjectFOPen_US
dc.subjectUnmet needsen_US
dc.subjectPatient careen_US
dc.subjectDiagnosisen_US
dc.subjectHealth policyen_US
dc.subjectRare diseaseen_US
dc.titleCurrent challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspectiveen_US
dc.typeJournal Articleen_US
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