Trials Sponsors Conditions Drugs Pricing

Conditions

Eye Diseases Genetic Disease Neuromuscular Diseases

Outcome Measures

Primary Outcomes (1)

Identification of genomic variants
To efficiently and reliably identify, and clinically interpret, cryptic genomic variants, representing the central challenge for the next decades of human genetics. The study will focus on ED and NMD conditions. The Diagnostic yield will be calculated as the proportion of the diagnosed cases over the total cases. Cases will be considered to be diagnosed when pathogenic or likely pathogenic genotype(s) will be identified and will be consistent with the patients clinical phenotype and segregation in the family.
22 months

Secondary Outcomes (1)

Evaluation of therapeutic efficiency
24 months

Study Arms (1)

Genomic characterization of RGD patients with ED/NMD

* patients/relatives or parents of patients with a clinical diagnosis of rare eye and neuromuscular diseases * patients/relatives or parents of patients with inconclusive data from ESOMA and aCGH (no pathogenic/probable pathogenic variant) or detection of a single hit (a pathogenic or probable pathogenic variant) in an autosomal recessive gene from ESOMA (or aCGH) or no pathogenic or probable pathogenic variant but detection of a large region of genomic homozygosity surrounding a candidate gene * patients/relatives or parents of patients with detection of cryptic VUS (variants of uncertain significance) (splicing/regulatory/non-coding CNVs) in candidate genes or pathogenic cryptic variants in a selected number of representative cases.

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

Interventions

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

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.

Genomic characterization of RGD patients with ED/NMD

Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.

Eligibility Criteria

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-Probability Sample

Study Population

The study population will include: * patients previously in diagnostic routine, who have provided informed consent for storage and secondary use of their biological samples and for being recontacted; they will be informed about the current project and requested to provide a new specific informed consent; * patients' parents and/or other relatives (e.g. siblings, auncle/aunt); * age: from 0 years (newborns) with no upper age limit.

You may qualify if:

patients/relatives of patients with clinical diagnosis of NMD/ED;

Sponsors & Collaborators

IRCCS Azienda Ospedaliero-Universitaria di Bologna
Otherlead

Study Sites (1)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, 40138, Italy

RECRUITING

Tommaso Pippucci, BiologistCONTACT+390512142892 tommaso.pippucci@unibo.it

Tommaso Pippucci, BiologistPRINCIPAL INVESTIGATOR

Biospecimen

Retention: SAMPLES WITH DNA

Peripheral blood and fibroblasts or muscle

MeSH Terms

Conditions

Neuromuscular DiseasesEye DiseasesGenetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

Tommaso Pippucci, Biologist
IRCCS Azienda Ospedaliero-Universitaria di Bologna
PRINCIPAL INVESTIGATOR

Central Study Contacts

Tommaso Pippucci, Biologist

CONTACT

0512142892 tommaso.pippucci@unibo.it

Study Design

Study Type: observational
Observational Model: OTHER
Time Perspective: CROSS SECTIONAL
Sponsor Type: OTHER
Responsible Party: SPONSOR

Study Record Dates

First Submitted

November 28, 2024

First Posted

January 15, 2025

Study Start

May 20, 2023

Actual (reported)

Primary Completion

May 20, 2025

Estimated (date passed)

This estimate has passed. The registry has not confirmed an actual date for this milestone.

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

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (1)

Study Arms (1)

Genomic characterization of RGD patients with ED/NMD

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Central Study Contacts

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (1)

Study Arms (1)

Genomic characterization of RGD patients with ED/NMD

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Central Study Contacts

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations