LYSO-NEXT
LYSO-NEXT: NGS-Based Genetic Approach to Identify Rare Lysosomal Storage Disorders in Patients With Neurological Manifestations
Sponsor study identifier
Secondary identifiers
OTHER · Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
interventional
1,000
1 country
1
Study Start
May 1, 2024
Actual (reported)Primary Completion
September 30, 2026
Actual (reported)Study Completion
December 2027
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
LYSO-NEXT uses genetic sequencing to identify undiagnosed lysosomal storage disorders in adults with unexplained neurological symptoms. Participants undergo whole-exome sequencing, which examines the protein-coding regions of DNA. A small subgroup with inconclusive results and strong clinical suspicion undergoes additional long-read sequencing to detect genetic changes that may be missed by the initial test. The study assesses the proportion of participants diagnosed with a lysosomal storage disorder and the diagnostic yield of each sequencing approach.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
December 2027
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
May 1, 2024
Actual (reported)September 30, 2026
Actual (reported)October 2, 2026
Actual (reported)October 7, 2026
Actual (reported)December 2027
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Prevalence of genetically diagnosed lysosomal storage disorders
Proportion of enrolled participants with a genetically diagnosed lysosomal storage disorder, calculated as the number of participants diagnosed with a lysosomal storage disorder divided by the total number of participants recruited. Genetic findings are assessed together with clinical reassessment to establish genotype-phenotype compatibility.
At completion of genetic analysis and clinical reassessment, approximately 6 months after blood sampling
Diagnostic yield of whole-exome sequencing
At completion of whole-exome sequencing analysis and clinical reassessment, approximately 6 months after blood sampling
Diagnostic yield of long-read next-generation sequencing
At completion of long-read sequencing analysis and clinical reassessment, expected approximately 6 months after blood sampling
Adults with neurological manifestations and no established genetic diagnosis undergo pre-test counseling, a single venous blood collection, and first-line whole-exome sequencing. Approximately 10 selected participants undergo additional long-read sequencing using the same sample. Genetic findings are followed by clinical reassessment and, for participants who choose to receive results, a genetic report and post-test counseling.
A single peripheral venous blood collection (two 7 mL EDTA tubes) is used for DNA extraction and whole-exome sequencing in all participants. First-line analysis uses the Nextera Exome Library protocol and Illumina NextSeq500 platform, followed by bioinformatic analysis for causal variants. Approximately 10 selected participants with unresolved findings and strong suspicion of a lysosomal storage disorder undergo second-line long-read sequencing without an additional blood collection. Testing is preceded by genetic counseling and followed by clinical reassessment and, for participants who choose to receive results, a genetic report and post-test counseling. The genetic analysis phase is expected to last approximately six months.
Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.
S.C. Neurologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, 20122, Italy
Marx V. Method of the year: long-read sequencing. Nat Methods. 2023 Jan;20(1):6-11. doi: 10.1038/s41592-022-01730-w. No abstract available.
Buermans HP, den Dunnen JT. Next generation sequencing technology: Advances and applications. Biochim Biophys Acta. 2014 Oct;1842(10):1932-1941. doi: 10.1016/j.bbadis.2014.06.015. Epub 2014 Jul 1.
Vellodi A. Lysosomal storage disorders. Br J Haematol. 2005 Feb;128(4):413-31. doi: 10.1111/j.1365-2141.2004.05293.x.
1,000 participants (actual enrollment reported by the registry).
First Submitted
October 2, 2026
First Posted
October 7, 2026
Study Start
May 1, 2024
Diet and Exercise in Pompe Disease
Contact the study team to confirm eligibility.
Primary Completion
September 30, 2026
Actual (reported)Study Completion
December 2027
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
October 7, 2026
Record last verified: 2026-10
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Source: ClinicalTrials.gov.
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