{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T18:36:19Z","timestamp":1767206179743,"version":"build-2238731810"},"reference-count":37,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T00:00:00Z","timestamp":1754092800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Research Centers in Minority Institutions Center for Research Resources Grant","award":["#U54MD007579"],"award-info":[{"award-number":["#U54MD007579"]}]},{"name":"Research Centers in Minority Institutions Center for Research Resources Grant","award":["#5P20GM103475-21"],"award-info":[{"award-number":["#5P20GM103475-21"]}]},{"name":"Molecular and Genomics Core","award":["#U54MD007579"],"award-info":[{"award-number":["#U54MD007579"]}]},{"name":"Molecular and Genomics Core","award":["#5P20GM103475-21"],"award-info":[{"award-number":["#5P20GM103475-21"]}]},{"name":"PR- INBRE Developmental Research Project Program","award":["#U54MD007579"],"award-info":[{"award-number":["#U54MD007579"]}]},{"name":"PR- INBRE Developmental Research Project Program","award":["#5P20GM103475-21"],"award-info":[{"award-number":["#5P20GM103475-21"]}]}],"content-domain":{"domain":["www.mdpi.com"],"crossmark-restriction":true},"short-container-title":["ARM"],"abstract":"<jats:p>Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder that impairs mucociliary clearance and leads to progressive lung disease. This study aimed to characterize lung function decline in a genetically homogeneous cohort of Puerto Rican patients with RSPH4A-associated PCD and to develop a clinical tool to predict lung function decline and support transplant referral decisions. We conducted a retrospective chart review of patients (n = 25) with a confirmed RSPH4A [c.921+3_6delAAGT] genetic variant, collecting longitudinal spirometry data and applying linear regressions to calculate each patient\u2019s individual FEV1 decline. The median FEV1 at diagnosis was 55%, with a median annual decline of \u22120.75% predicted. Adults exhibited significantly lower lung function compared to pediatric patients, while no difference was seen between males and females. Based on this observed decline, we developed the Predicted Capacity Decline Index (PCDx), an index that estimates the age and time until a patient reaches the 30% FEV1 threshold, the point at which lung transplant referral is typically considered. Our findings underscore the need for early intervention and suggest that genotype-specific tools like the PCDx may enhance clinical decision-making in managing progressive lung disease in PCD.<\/jats:p>","DOI":"10.3390\/arm93040027","type":"journal-article","created":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T11:54:51Z","timestamp":1754308491000},"page":"27","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["RSPH4A-PCDx: An Index to Predict Lung Function Decline in Primary Ciliary Dyskinesia"],"prefix":"10.3390","volume":"93","author":[{"given":"Gabriel","family":"Rom\u00e1n-R\u00edos","sequence":"first","affiliation":[{"name":"Department of Basic Sciences, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-8279-2589","authenticated-orcid":false,"given":"Gabriel","family":"Rosario-Ortiz","sequence":"additional","affiliation":[{"name":"Department of Basic Sciences, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcos J.","family":"Ramos-Benitez","sequence":"additional","affiliation":[{"name":"Department of Basic Sciences, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo A.","family":"Mosquera","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6133-3517","authenticated-orcid":false,"given":"Wilfredo","family":"De Jes\u00fas-Rojas","sequence":"additional","affiliation":[{"name":"Department of Basic Sciences, Ponce Health Sciences University, Ponce, PR 00716, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.jpeds.2020.11.040","article-title":"Understanding Primary Ciliary Dyskinesia and Other Ciliopathies","volume":"230","author":"Horani","year":"2021","journal-title":"J. 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