Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure
Purpose Patients with erythropoietic protoporphyria (EPP), a severe painful photodermatosis, experience prodromal sensations when exposed to sunlight, which are the “warning signals” to exit the sun, as prolonged exposure causes an excruciatingly painful phototoxic attack. The unique prodromal cutan...
Gespeichert in:
| Veröffentlicht in: | Genetics in medicine 2021-09, Vol.23 (9), p.1616-1623 |
|---|---|
| Hauptverfasser: | , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1623 |
|---|---|
| container_issue | 9 |
| container_start_page | 1616 |
| container_title | Genetics in medicine |
| container_volume | 23 |
| creator | Wensink, D. Langendonk, J. G. Overbey, J. R. Balwani, M. Van Broekhoven, E. J. E. Wagenmakers, M. A. E. M. Wilson, J. H. P. Wheeden, K. Naik, H. Desnick, R. J. |
| description | Purpose
Patients with erythropoietic protoporphyria (EPP), a severe painful photodermatosis, experience prodromal sensations when exposed to sunlight, which are the “warning signals” to exit the sun, as prolonged exposure causes an excruciatingly painful phototoxic attack. The unique prodromal cutaneous sensations are reversible and differ from the severe burning pain attack lasting 2–7 days. Previously, afamelanotide treatment was studied using time to pain or time outside as primary outcome measures. Since patients have an ingrained fear of sunlight, these measures did not capture the full treatment effect. We retrospectively characterized and evaluated time to prodrome (TTP) as a safer, patient-reported outcome (PRO) measure in afamelanotide-treated patients.
Methods
Structured interviews recorded TTP before and during afamelanotide treatment in retrospective US and Dutch cohort studies.
Results
Thirty-one US and 58 Dutch EPP patients participated. Before afamelanotide treatment, 54.8% US and 39.7% Dutch patients reported TTP onset |
| doi_str_mv | 10.1038/s41436-021-01176-z |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2522190456</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2522190456</sourcerecordid><originalsourceid>FETCH-LOGICAL-c419t-40e0d5d2267b9701fcfd8f9a0b486e1f54c982ee2ef174dc1ef44e2b700855293</originalsourceid><addsrcrecordid>eNp9kc1u1DAUhS0EoqXwAiyQJTYsMFz_xEnYoar8SJXYwNryONczriZxsB2V6Yp3gCfkSXCYAhILVj72-e6xrg4hjzm84CC7l1lxJTUDwRlw3mp2c4ec8kYCA6n13aqh75jUACfkQc5XALyVAu6TEyl7xbuOn5JvF-lQdinOMWAJjs4plnpJ8-6Qgn1FSxiRlri-DymO-JyWHdJrm6YwbWkO28nuVx-_hELzMlUxx7ykyoSyi0uhsw3Tj6_fbRUl4FRYwppfcKDVdTWSovfBWXegI9p19CG55-0-46Pb84x8enPx8fwdu_zw9v3560vmFO8LU4AwNIMQut30LXDv_ND53sJGdRq5b5TrO4Eo0PNWDY6jVwrFpgXomkb08ow8O-bW5T4vmIsZQ3a439sJ45KNaITgPahGV_TpP-hVXFLdfaXaRmsp-UqJI-VSzDmhN3MKo00Hw8GslZljZaZWZn5VZm7q0JPb6GUz4vBn5HdHFZBHIFdr2mL6-_d_Yn8CO52mjg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2575663316</pqid></control><display><type>article</type><title>Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure</title><source>MEDLINE</source><source>EZB-FREE-00999 freely available EZB journals</source><source>ProQuest Central UK/Ireland</source><source>Alma/SFX Local Collection</source><creator>Wensink, D. ; Langendonk, J. G. ; Overbey, J. R. ; Balwani, M. ; Van Broekhoven, E. J. E. ; Wagenmakers, M. A. E. M. ; Wilson, J. H. P. ; Wheeden, K. ; Naik, H. ; Desnick, R. J.</creator><creatorcontrib>Wensink, D. ; Langendonk, J. G. ; Overbey, J. R. ; Balwani, M. ; Van Broekhoven, E. J. E. ; Wagenmakers, M. A. E. M. ; Wilson, J. H. P. ; Wheeden, K. ; Naik, H. ; Desnick, R. J.</creatorcontrib><description>Purpose
Patients with erythropoietic protoporphyria (EPP), a severe painful photodermatosis, experience prodromal sensations when exposed to sunlight, which are the “warning signals” to exit the sun, as prolonged exposure causes an excruciatingly painful phototoxic attack. The unique prodromal cutaneous sensations are reversible and differ from the severe burning pain attack lasting 2–7 days. Previously, afamelanotide treatment was studied using time to pain or time outside as primary outcome measures. Since patients have an ingrained fear of sunlight, these measures did not capture the full treatment effect. We retrospectively characterized and evaluated time to prodrome (TTP) as a safer, patient-reported outcome (PRO) measure in afamelanotide-treated patients.
Methods
Structured interviews recorded TTP before and during afamelanotide treatment in retrospective US and Dutch cohort studies.
Results
Thirty-one US and 58 Dutch EPP patients participated. Before afamelanotide treatment, 54.8% US and 39.7% Dutch patients reported TTP onset <10 minutes in direct sunlight. In both studies, patients’ TTP’s were significantly longer during afamelanotide treatment (
p
< 0.0001). All US patients’ TTP increased; no TTP was <10 minutes. Among Dutch patients 81% improved; only 10.3% reported TTPs < 10 minutes.
Conclusion
EPP patients reported substantial improvements in TTP during afamelanotide treatment. TTP could provide a safer, PRO-based efficacy endpoint for assessing future EPP treatments.</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1038/s41436-021-01176-z</identifier><identifier>PMID: 33941881</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Biomedical and Life Sciences ; Biomedicine ; Clinical trials ; Disease ; Endothelium ; Human Genetics ; Humans ; Laboratory Medicine ; Light ; Medicine ; Metabolism ; Pain ; Patient Reported Outcome Measures ; Patients ; Protoporphyria, Erythropoietic - diagnosis ; Protoporphyria, Erythropoietic - drug therapy ; Quality of life ; Retrospective Studies ; Sun ; Sunlight - adverse effects ; Transplants & implants</subject><ispartof>Genetics in medicine, 2021-09, Vol.23 (9), p.1616-1623</ispartof><rights>The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics 2021</rights><rights>2021. The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics.</rights><rights>The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics 2021.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c419t-40e0d5d2267b9701fcfd8f9a0b486e1f54c982ee2ef174dc1ef44e2b700855293</citedby><cites>FETCH-LOGICAL-c419t-40e0d5d2267b9701fcfd8f9a0b486e1f54c982ee2ef174dc1ef44e2b700855293</cites><orcidid>0000-0001-5501-2971</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/2575663316?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,64385,64387,64389,72469</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33941881$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wensink, D.</creatorcontrib><creatorcontrib>Langendonk, J. G.</creatorcontrib><creatorcontrib>Overbey, J. R.</creatorcontrib><creatorcontrib>Balwani, M.</creatorcontrib><creatorcontrib>Van Broekhoven, E. J. E.</creatorcontrib><creatorcontrib>Wagenmakers, M. A. E. M.</creatorcontrib><creatorcontrib>Wilson, J. H. P.</creatorcontrib><creatorcontrib>Wheeden, K.</creatorcontrib><creatorcontrib>Naik, H.</creatorcontrib><creatorcontrib>Desnick, R. J.</creatorcontrib><title>Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><addtitle>Genet Med</addtitle><description>Purpose
Patients with erythropoietic protoporphyria (EPP), a severe painful photodermatosis, experience prodromal sensations when exposed to sunlight, which are the “warning signals” to exit the sun, as prolonged exposure causes an excruciatingly painful phototoxic attack. The unique prodromal cutaneous sensations are reversible and differ from the severe burning pain attack lasting 2–7 days. Previously, afamelanotide treatment was studied using time to pain or time outside as primary outcome measures. Since patients have an ingrained fear of sunlight, these measures did not capture the full treatment effect. We retrospectively characterized and evaluated time to prodrome (TTP) as a safer, patient-reported outcome (PRO) measure in afamelanotide-treated patients.
Methods
Structured interviews recorded TTP before and during afamelanotide treatment in retrospective US and Dutch cohort studies.
Results
Thirty-one US and 58 Dutch EPP patients participated. Before afamelanotide treatment, 54.8% US and 39.7% Dutch patients reported TTP onset <10 minutes in direct sunlight. In both studies, patients’ TTP’s were significantly longer during afamelanotide treatment (
p
< 0.0001). All US patients’ TTP increased; no TTP was <10 minutes. Among Dutch patients 81% improved; only 10.3% reported TTPs < 10 minutes.
Conclusion
EPP patients reported substantial improvements in TTP during afamelanotide treatment. TTP could provide a safer, PRO-based efficacy endpoint for assessing future EPP treatments.</description><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Clinical trials</subject><subject>Disease</subject><subject>Endothelium</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Laboratory Medicine</subject><subject>Light</subject><subject>Medicine</subject><subject>Metabolism</subject><subject>Pain</subject><subject>Patient Reported Outcome Measures</subject><subject>Patients</subject><subject>Protoporphyria, Erythropoietic - diagnosis</subject><subject>Protoporphyria, Erythropoietic - drug therapy</subject><subject>Quality of life</subject><subject>Retrospective Studies</subject><subject>Sun</subject><subject>Sunlight - adverse effects</subject><subject>Transplants & implants</subject><issn>1098-3600</issn><issn>1530-0366</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kc1u1DAUhS0EoqXwAiyQJTYsMFz_xEnYoar8SJXYwNryONczriZxsB2V6Yp3gCfkSXCYAhILVj72-e6xrg4hjzm84CC7l1lxJTUDwRlw3mp2c4ec8kYCA6n13aqh75jUACfkQc5XALyVAu6TEyl7xbuOn5JvF-lQdinOMWAJjs4plnpJ8-6Qgn1FSxiRlri-DymO-JyWHdJrm6YwbWkO28nuVx-_hELzMlUxx7ykyoSyi0uhsw3Tj6_fbRUl4FRYwppfcKDVdTWSovfBWXegI9p19CG55-0-46Pb84x8enPx8fwdu_zw9v3560vmFO8LU4AwNIMQut30LXDv_ND53sJGdRq5b5TrO4Eo0PNWDY6jVwrFpgXomkb08ow8O-bW5T4vmIsZQ3a439sJ45KNaITgPahGV_TpP-hVXFLdfaXaRmsp-UqJI-VSzDmhN3MKo00Hw8GslZljZaZWZn5VZm7q0JPb6GUz4vBn5HdHFZBHIFdr2mL6-_d_Yn8CO52mjg</recordid><startdate>20210901</startdate><enddate>20210901</enddate><creator>Wensink, D.</creator><creator>Langendonk, J. G.</creator><creator>Overbey, J. R.</creator><creator>Balwani, M.</creator><creator>Van Broekhoven, E. J. E.</creator><creator>Wagenmakers, M. A. E. M.</creator><creator>Wilson, J. H. P.</creator><creator>Wheeden, K.</creator><creator>Naik, H.</creator><creator>Desnick, R. J.</creator><general>Nature Publishing Group US</general><general>Elsevier Limited</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-5501-2971</orcidid></search><sort><creationdate>20210901</creationdate><title>Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure</title><author>Wensink, D. ; Langendonk, J. G. ; Overbey, J. R. ; Balwani, M. ; Van Broekhoven, E. J. E. ; Wagenmakers, M. A. E. M. ; Wilson, J. H. P. ; Wheeden, K. ; Naik, H. ; Desnick, R. J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c419t-40e0d5d2267b9701fcfd8f9a0b486e1f54c982ee2ef174dc1ef44e2b700855293</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Clinical trials</topic><topic>Disease</topic><topic>Endothelium</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Laboratory Medicine</topic><topic>Light</topic><topic>Medicine</topic><topic>Metabolism</topic><topic>Pain</topic><topic>Patient Reported Outcome Measures</topic><topic>Patients</topic><topic>Protoporphyria, Erythropoietic - diagnosis</topic><topic>Protoporphyria, Erythropoietic - drug therapy</topic><topic>Quality of life</topic><topic>Retrospective Studies</topic><topic>Sun</topic><topic>Sunlight - adverse effects</topic><topic>Transplants & implants</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wensink, D.</creatorcontrib><creatorcontrib>Langendonk, J. G.</creatorcontrib><creatorcontrib>Overbey, J. R.</creatorcontrib><creatorcontrib>Balwani, M.</creatorcontrib><creatorcontrib>Van Broekhoven, E. J. E.</creatorcontrib><creatorcontrib>Wagenmakers, M. A. E. M.</creatorcontrib><creatorcontrib>Wilson, J. H. P.</creatorcontrib><creatorcontrib>Wheeden, K.</creatorcontrib><creatorcontrib>Naik, H.</creatorcontrib><creatorcontrib>Desnick, R. J.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Genetics in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wensink, D.</au><au>Langendonk, J. G.</au><au>Overbey, J. R.</au><au>Balwani, M.</au><au>Van Broekhoven, E. J. E.</au><au>Wagenmakers, M. A. E. M.</au><au>Wilson, J. H. P.</au><au>Wheeden, K.</au><au>Naik, H.</au><au>Desnick, R. J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure</atitle><jtitle>Genetics in medicine</jtitle><stitle>Genet Med</stitle><addtitle>Genet Med</addtitle><date>2021-09-01</date><risdate>2021</risdate><volume>23</volume><issue>9</issue><spage>1616</spage><epage>1623</epage><pages>1616-1623</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><abstract>Purpose
Patients with erythropoietic protoporphyria (EPP), a severe painful photodermatosis, experience prodromal sensations when exposed to sunlight, which are the “warning signals” to exit the sun, as prolonged exposure causes an excruciatingly painful phototoxic attack. The unique prodromal cutaneous sensations are reversible and differ from the severe burning pain attack lasting 2–7 days. Previously, afamelanotide treatment was studied using time to pain or time outside as primary outcome measures. Since patients have an ingrained fear of sunlight, these measures did not capture the full treatment effect. We retrospectively characterized and evaluated time to prodrome (TTP) as a safer, patient-reported outcome (PRO) measure in afamelanotide-treated patients.
Methods
Structured interviews recorded TTP before and during afamelanotide treatment in retrospective US and Dutch cohort studies.
Results
Thirty-one US and 58 Dutch EPP patients participated. Before afamelanotide treatment, 54.8% US and 39.7% Dutch patients reported TTP onset <10 minutes in direct sunlight. In both studies, patients’ TTP’s were significantly longer during afamelanotide treatment (
p
< 0.0001). All US patients’ TTP increased; no TTP was <10 minutes. Among Dutch patients 81% improved; only 10.3% reported TTPs < 10 minutes.
Conclusion
EPP patients reported substantial improvements in TTP during afamelanotide treatment. TTP could provide a safer, PRO-based efficacy endpoint for assessing future EPP treatments.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>33941881</pmid><doi>10.1038/s41436-021-01176-z</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0001-5501-2971</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1098-3600 |
| ispartof | Genetics in medicine, 2021-09, Vol.23 (9), p.1616-1623 |
| issn | 1098-3600 1530-0366 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2522190456 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; ProQuest Central UK/Ireland; Alma/SFX Local Collection |
| subjects | Biomedical and Life Sciences Biomedicine Clinical trials Disease Endothelium Human Genetics Humans Laboratory Medicine Light Medicine Metabolism Pain Patient Reported Outcome Measures Patients Protoporphyria, Erythropoietic - diagnosis Protoporphyria, Erythropoietic - drug therapy Quality of life Retrospective Studies Sun Sunlight - adverse effects Transplants & implants |
| title | Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-29T05%3A27%3A42IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Erythropoietic%20protoporphyria:%20time%20to%20prodrome,%20the%20warning%20signal%20to%20exit%20sun%20exposure%20without%20pain%E2%80%94a%20patient-reported%20outcome%20efficacy%20measure&rft.jtitle=Genetics%20in%20medicine&rft.au=Wensink,%20D.&rft.date=2021-09-01&rft.volume=23&rft.issue=9&rft.spage=1616&rft.epage=1623&rft.pages=1616-1623&rft.issn=1098-3600&rft.eissn=1530-0366&rft_id=info:doi/10.1038/s41436-021-01176-z&rft_dat=%3Cproquest_cross%3E2522190456%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2575663316&rft_id=info:pmid/33941881&rfr_iscdi=true |