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NGS-Based Genetic Approach to Identify Rare Lysosomal Storage Disorders in Patients With Neurological Manifestations
Sponsor: Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Summary
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.
Official title: LYSO-NEXT: NGS-Based Genetic Approach to Identify Rare Lysosomal Storage Disorders in Patients With Neurological Manifestations
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
INTERVENTIONAL
Enrollment
1000
Start Date
2024-05-01
Completion Date
2027-12
Last Updated
2026-10-07
Healthy Volunteers
No
Conditions
Interventions
NGS-based genetic testing
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.
Locations (1)
S.C. Neurologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, Italy