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Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes

NCT06775561 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2025-01-15

No results posted yet for this study

Summary

PARADIGM study, funded by the PNRR research grant, will focus on Eye Diseases (ED) and Neuro-Muscular Diseases (NMD) as groups of genetically heterogeneous diseases which are extensively studied by the Partners partecipating in the project; indeed ED and NMD are well clinically and molecularly characterized and approachable by drug-testing options already assessed and implemented by PARADIGM partners. ED and NMD represent good and compatible disease models as:

* both are genetically heterogeneous disorders where missing heritability is likely to be hidden in non-coding variants;
* many of the individual genes accountable for the ED and NMD cause autosomal recessive forms, increasing the chance of finding regulatory/splicing variants

Conditions

Interventions

GENETIC

PARADIGM study aims to streamline the process from genomic characterization of RGD patients with ED/NMD to identification of the suitable personalized therapy.

Samples are collected by UO1/UO2/UO3. DNA/RNA samples are sent to UO3 for genome and transcriptome sequencing. In vitro systems or patient-derived cell models are used for in vitro experimental validation (UO2) or development of therapeutical approaches (UO2/UO4). Samples of cases still undiagnosed after the combined sequencing and validation approaches undergo long-read sequencing by an outsourcing facility. Sequencing data are transferred to UO1 for bioinformatic analysis and may be deposited into RDconnect for still inconclusive cases. Variants of interest from bioinformatic analyses and in vitro validations are collectively discussed by UO1/UO2/UO3 to evaluate their clinico-molecular significance and to be selected for testing therapeutic approaches by UO2/UO4. Blue arrows and shapes denote samples and personal data, while green data that make no identifiable person.

Sponsors & Collaborators

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    lead OTHER

Principal Investigators

  • Tommaso Pippucci, Biologist · IRCCS Azienda Ospedaliero-Universitaria di Bologna

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-05-20
Primary Completion
2025-05-20
Completion
2025-05-20

Countries

  • Italy

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06775561 on ClinicalTrials.gov