Study:  Whole Exome Sequencing of LPHS Patients vs. Persistent Isolated Hematuria Patients: A Comparative Study.

Protocol (REB: 18-29): Single-centre pilot study investigating the molecular basis of Loin Pain Hematuria Syndrome (LPHS) by comparing LPHS patients (cases) with isolated hematuria (IH) patients (controls). The study will perform comparative exome sequencing and transcriptomic analysis between groups, along with proteomic analysis of renal biopsy, blood, and urine samples. The objective is to identify disease-causing mutations and differentially expressed genes and proteins associated with hematuria and pain in LPHS.

Study: Trio Whole-Genome Sequencing of LPHS Patients with Positive Family History.

Protocol (REB:22-66): Single-centre pilot study to investigate the molecular basis of Loin Pain Hematuria Syndrome (LPHS) using exome sequencing in affected probands and available first-degree family members. The study aims to identify inherited and de novo disease-causing mutations in genes associated with hematuria and pain syndromes. The objective is to elucidate the genetic underpinnings of LPHS to better understand its pathophysiology and inform future diagnostic and therapeutic strategies.

Study: Transcriptomic Profiling (RNA-Seq) of LPHS Patients: Pain Attack vs. Pain-Free Phases.

Protocol (REB: 18-29): Single-centre pilot study conducting RNA-seq–based transcriptomic profiling on paired blood samples from six patients with Loin Pain Hematuria Syndrome (LPHS), with one sample collected during an acute pain episode and a second during a pain-free period. The primary objective is to identify differentially expressed genes and pathways associated with the pain state within the same individual. This within-patient comparative approach aims to elucidate molecular mechanisms underlying pain in LPHS and generate targets for future mechanistic and therapeutic studies.

Study: Detailed phenotyping (clinical characteristics, pain patterns, family history, and pedigree analysis) of LPHS patients.

Protocol (REB-26-15): Phenotyping study of patients with Loin Pain Hematuria Syndrome (LPHS) to determine whether LPHS represents a single intrinsic kidney disorder or distinct clinical subgroups with differing etiopathogenesis. Building on preliminary analysis of 24 patients, an additional 75 patients will undergo detailed phenotypic and pedigree assessment using an enhanced 84-item questionnaire. The objective is to stratify patients into clinically meaningful subgroups to improve understanding of disease mechanisms and inform future diagnostic and therapeutic strategies.