{"doi":"10.1016/j.gimo.2025.103443","title":"Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1","abstract":"Purpose: . Analysis of serum neurofilament light (NfL), a marker of neuronal damage, could be useful as a biomarker for patient monitoring and clinical trial design. Methods: We measured NfL levels in serum samples from 118 well-characterized individuals with NPC1 and analyzed them with respect to clinical measures and treatment status. Results: The results show a 6.1-fold increase in serum NfL in individuals with NPC1 compared with age-appropriate controls. Moreover, serum NfL levels showed a significant positive correlation with age of neurological symptom onset and the annual severity increment score. Serum NfL levels were also positively correlated with the 17- and 5-domain NPC Neurological Severity Scores. Longitudinal analyses reveal a 26% reduction in serum NfL levels in individuals on miglustat, a therapeutic drug used off-label for the treatment of NPC1 in the United States of America. Effectiveness of intrathecal hydroxypropyl-β-cyclodextrin treatment may be more beneficial in younger individuals. To help inform clinical trial design, our modeling predicts that a measurable reduction of serum NfL levels might be observed after 8 months of treatment with a potential drug exhibiting 10% to 20% efficacy. Conclusion: Our data suggest that NfL may be a useful serum biomarker for NPC1.","journal":"Genetics in Medicine Open","year":2025,"id":569890,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.941,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1210542,"name":"Ruyu Zhou","orcid":null,"position":1,"is_corresponding":false},{"id":1333209,"name":"Avani V. Mylvara","orcid":"0000-0002-8741-4008","position":2,"is_corresponding":false},{"id":1175523,"name":"Cameron Padilla","orcid":"0009-0001-9962-6008","position":3,"is_corresponding":false},{"id":1056399,"name":"Derek Alexander","orcid":"0009-0009-6578-2537","position":4,"is_corresponding":false},{"id":336175,"name":"Nicole Y. Farhat","orcid":"0000-0002-6224-9800","position":5,"is_corresponding":false},{"id":509635,"name":"Carolina Álvarez","orcid":"0000-0003-1409-0898","position":6,"is_corresponding":false},{"id":311165,"name":"Antony Cougnoux","orcid":"0000-0001-9407-7540","position":7,"is_corresponding":false},{"id":304193,"name":"Elizabeth Berry‐Kravis","orcid":"0000-0001-7099-1522","position":8,"is_corresponding":false},{"id":421639,"name":"Stephanie M. Cologna","orcid":"0000-0002-3541-3361","position":9,"is_corresponding":false},{"id":1086787,"name":"Fang Liu","orcid":"0000-0003-3028-5927","position":10,"is_corresponding":false},{"id":305578,"name":"Forbes D. Porter","orcid":"0000-0001-9397-0046","position":11,"is_corresponding":false},{"id":470059,"name":"Niamh X. Cawley","orcid":"0000-0003-2785-5941","position":0,"is_corresponding":true}],"reference_count":36,"raw_metadata":null,"created_at":"2026-07-19T02:57:03.510013Z","pmid":"40821948","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}