Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power

Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power


Lead Sponsor: Neuromed IRCCS

Collaborator: Institute of Genetics and Biophysics CNR

Source Neuromed IRCCS
Brief Summary

The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols.

The study will be conducted through the application of complementary experimental strategies, ranging from the clinical, genetic and molecular characterization of the pathology to the search for rare variants and the development of cellular disease models.

Detailed Description

1. Clinical evaluation of patients and relatives

2. High throughput analysis of genetic variants in genome exomes

3. Genotype-phenotype association testing

4. Identification of genetic risk variants for rare diseases

Overall Status Not yet recruiting
Start Date October 31, 2019
Completion Date July 31, 2022
Primary Completion Date July 31, 2021
Study Type Observational
Primary Outcome
Measure Time Frame
Identification of genetic variants responsible for rare diseases Two years
Enrollment 300

Sampling Method: Probability Sample


Inclusion Criteria:

- Patients affected by: SLA, Incontinentia Pigmenti type II, Rett Syndrome, Paget Disease, Pompe Disease, Immunodeficiency, Centromeric instability and Facial anomalies, Cortical malformations and malignant epileptic encephalopathies

Exclusion Criteria:

- none

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Diego Centonze, MD Principal Investigator Head of Neurology Unit
Overall Contact

Last Name: Diego Centonze, MD

Phone: +39 0865915212

Email: [email protected]

Facility: Contact: IRCCS Neuromed Alba Di Pardo, PhD 0865915212 [email protected]
Location Countries


Verification Date

November 2019

Responsible Party

Type: Principal Investigator

Investigator Affiliation: Neuromed IRCCS

Investigator Full Name: Diego Centonze

Investigator Title: Head of Neurology Unit

Has Expanded Access No
Condition Browse
Arm Group

Label: Cases

Description: Patients with rare disease

Label: controls

Description: Healthy parents and relatives

Study Design Info

Observational Model: Family-Based

Time Perspective: Cross-Sectional