NCT04152876

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
300

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Oct 2019

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 31, 2019

Completed
4 days until next milestone

First Submitted

Initial submission to the registry

November 4, 2019

Completed
1 day until next milestone

First Posted

Study publicly available on registry

November 5, 2019

Completed
1.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 31, 2021

Completed
1 year until next milestone

Study Completion

Last participant's last visit for all outcomes

July 31, 2022

Completed
Last Updated

November 5, 2019

Status Verified

November 1, 2019

Enrollment Period

1.8 years

First QC Date

November 4, 2019

Last Update Submit

November 4, 2019

Conditions

Rare Diseases

Outcome Measures

Primary Outcomes (1)

  • 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

Study Arms (2)

Cases

Patients with rare disease

controls

Healthy parents and relatives

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
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.

You may qualify if:

  • 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

You may not qualify if:

  • none

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

IRCCS Neuromed

Pozzilli, 86077, Italy

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples for DNA extraction

MeSH Terms

Conditions

Rare Diseases

Condition Hierarchy (Ancestors)

Disease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Diego Centonze, MD

    Head of Neurology Unit

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Diego Centonze, MD

CONTACT

+39 0865915212centonze@uniroma2.it

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Head of Neurology Unit

Study Record Dates

First Submitted

November 4, 2019

First Posted

November 5, 2019

Study Start

October 31, 2019

Primary Completion

July 31, 2021

Study Completion

July 31, 2022

Last Updated

November 5, 2019

Record last verified: 2019-11

Locations

IT(1)