Functional Genomics of Rare Genetic Diseases: Realization... | NCT04152876

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

NCT04152876

Sponsor

Neuromed IRCCS

Status

Unknown status

Last Update Posted

Nov 5, 2019Actual

Enrollment

300Estimated

Phase

Not provided

Conditions

Rare Diseases

Interventions

Not provided

Countries

Italy

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Nov 2019

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Not yet recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 31, 2019Estimated

Primary Completion Date

Jul 31, 2021Estimated

Completion Date

Jul 31, 2022Estimated

First Submitted Date

Nov 4, 2019

First Submission Date that Met QC Criteria

Nov 4, 2019

First Posted Date

Nov 5, 2019Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Nov 4, 2019

Last Update Posted Date

Nov 5, 2019Actual

Name	Class
Institute of Genetics and Biophysics CNR	UNKNOWN

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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

Clinical evaluation of patients and relatives
High throughput analysis of genetic variants in genome exomes
Genotype-phenotype association testing
Identification of genetic risk variants for rare diseases

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

300Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Cases		Patients with rare disease
controls		Healthy parents and relatives

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Identification of genetic variants responsible for rare diseases	Analysis of exome sequencing data; annotation of genetic variants; selection of variants present in cases and absent in controls	Two years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Patients will be selected from the Center for rare diseases of the IRCCS Neuromed, and at IGB CNR according to specific inclusion criteria. Approximatey 300 subjects, recruited with a family-based approach, will be included in the study.

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Diego Centonze, MD	Contact	+39 0865915212		centonze@uniroma2.it

Overall Officials

Name	Affiliation	Role
Diego Centonze, MD	Head of Neurology Unit	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
IRCCS Neuromed		Pozzilli		86077	Italy

Condition Browse Module

MeSH Terms

ID	Term
D035583	Rare Diseases

Ancestor Terms

ID	Term
D020969	Disease Attributes
D010335	Pathologic Processes
D013568	Pathological Conditions, Signs and Symptoms

Browse Leaves

Not provided

Browse Branches

Not provided