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We aimed to evaluate three different sampling strategies that have proven effective for other\n                      <jats:italic>hard-to-reach<\/jats:italic>\n                      populations and compare their effectiveness in the context of rare diseases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Within a cross-sectional online study, we compared three sampling strategies (respondent-driven sampling, online-based sampling, and location-based sampling) for their effectiveness in recruiting patients with three rare diseases. Additionally, we compared characteristics of recruited patients. All participants completed an online questionnaire using REDCap.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Measures<\/jats:title>\n                    <jats:p>Our primary outcome was the number of patients recruited by each sampling strategy. We further assessed study perception, sociodemographic and clinical characteristics, as well as validated measures to assess depression severity (PHQ-9), anxiety severity (GAD-7), illness cognitions (ICQ), health-related quality of life (SF-12) and psychological burden through somatic symptoms (SSD-12).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u2009254 individuals accessed the survey website and\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u2009225 completed the sociodemographic characteristics and were included in the analysis. Mean age was 42.53\u2009years (\n                      <jats:italic>SD<\/jats:italic>\n                      \u2009=\u200913.06) and\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u2009156 (69%) participants were female. Online-based sampling yielded the highest number of participants (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u2009184, 82% (95% CI [79%, 85%])), followed by location-based sampling (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u200922, 10% (95% CI [4%, 16%])) and respondent-driven sampling (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u200919, 8% (95% CI [2%, 14%])). Patient characteristics differed significantly regarding gender and satisfaction with medical care, with online-sampling having the highest share of female participants and patients recruited via location-based sampling reporting a higher satisfaction with their overall care. Across all three sampling strategies, participants showed typical features of populations affected by rare diseases such as high rates of depression and anxiety symptoms and reduced quality of life.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our study identified online-based sampling as the most effective recruitment strategy for patients with rare diseases. It may be the most promising approach, especially with limited recruitment periods. Potential biases such as gender imbalances should be considered. We encountered substantial challenges with respondent-driven and location-based sampling. Addressing these challenges in future studies may help to make better use of the potential that lies in these sampling strategies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-025-04192-3","type":"journal-article","created":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T17:05:13Z","timestamp":1768928713000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Optimizing recruitment in rare disease research: a cross-sectional online study evaluating sampling strategies for hard-to-reach populations"],"prefix":"10.1186","volume":"21","author":[{"given":"Shalice","family":"Baffour","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"L\u00f6we","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annika","family":"Braun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4031-9839","authenticated-orcid":false,"given":"Natalie","family":"Uhlenbusch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,1,20]]},"reference":[{"key":"4192_CR1","unstructured":"Eurordis. 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J Rare Disord: Diagnosis Ther. 2016."}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-025-04192-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-04192-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-04192-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T16:52:21Z","timestamp":1781628741000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13023-025-04192-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,20]]},"references-count":54,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["4192"],"URL":"https:\/\/doi.org\/10.1186\/s13023-025-04192-3","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,20]]},"assertion":[{"value":"22 January 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 December 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 January 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The independent ethics committee of the Hamburg Medical Chamber issued a positive ethics vote for the MZCSE-registry on September 17, 2022 (reference number: LPEK-0532). All participants gave informed consent and subsequently completed the online questionnaire anonymously.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All authors agreed to the submission of the manuscript.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"BL reports research funding (no personal honoraria) from the German Research Foundation, the German Federal Ministry of Education and Research, the German Innovation Committee at the Joint Federal Committee, the European Commission\u2019s Horizon 2020 Framework Programme, the European Joint Programme for Rare Diseases (EJP), the Ministry of Science, Research and Equality of the Free and Hanseatic City of Hamburg, Germany, and the Foundation Psychosomatics of Spinal Diseases, Stuttgart, Germany. He received remunerations for several scientific book articles from various book publishers, from the Norddeutsche Rundfunk (NDR) for interviews in medical knowledge programmes on public television, and as a committee member from Aarhus University, Denmark. He received travel expenses from the European Association of Psychosomatic Medicine (EAPM), and accommodation and meals from the Societatea de Medicina Biopsyhosociala, Romania, for a presentation at the EAPM Academy at the Conferin\u021ba Na\u021bional\u0103 de Psihosomatic\u0103, Cluj-Napoca, Romania, October 2023. He received a travel grant for a lecture on the occasion of the presentation of the Alison Creed Award at the EAPM Conference in Lausanne, 12\u201315 June 2024. He received remuneration and travel expenses for lecture at the Lindauer Psychotherapiewochen, April 2024. He is President of the German College of Psychosomatic Medicine (DKPM) (unpaid) since March 2024 and was a member of the Board of the European Association of Psychosomatic Medicine (EAPM) (unpaid) until 2022. He is member of the EIFFEL Study Oversight Committee (unpaid).NU reports research funding (no personal honoraria) from the German Federal Ministry of Education and Research and the European Joint Programme for Rare Diseases (EJP). She received travel grants from the CARUS foundation to attend the ICPM conference in T\u00fcbingen, Germany, 19\u201321 September 2024. She is board member of the EAPM (unpaid) since June 2024.AB and SB have nothing to declare.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"29"}}