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NGS-Based Genetic Approach to Identify Rare Lysosomal Storage Disorders in Patients With Neurological Manifestations

Study acronym: LYSO-NEXT
StatusActive, Not Recruiting
PhaseNot applicable
Started
View on ClinicalTrials.gov ↗

Record History

  1. Study First Submitted
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.
Trial Details
NCT Number NCT07863479
Lead Sponsor Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Collaborators: Sanofi
Conditions
(from sponsor)		 Lysosomal Storage Diseases
Related terms Lysosomal Storage Diseases
Enrollment 1,000 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov