Study of Neurodegenerative Diseases Induced Stem Cells in Patients and Healthy Family Controls.

NCT03682458 | Unknown DMC

• 1 other identifier: CGM-02
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

Neurological and neurodegenerative diseases have a major impact in families and in the national health service due to the lack in many cases of effective and long-lasting therapies. The lack of these therapeutic strategies is due in large part to the difficulty of modeling these pathologies in vitro. In fact, the impossibility of being able to cultivate human neurons in vitro has forced the use of animal cell models that do not adequately recapitulate the complexity of these human pathologies. For this reason it is necessary to proceed with the development of in vitro models of human origin that reproduce the molecular and biochemical characteristics of these diseases. The discovery of cellular reprogramming allowed the generation of pluripotent stem cells from the conversion of somatic cells taken from adult individuals. The proposing group already has great experience in generating iPS cells by reprogramming and in differentiating them into neurons and glias useful for neurological disease cellular studies. As an example, Dr. Broccoli's group has generated iPS cells from patients with Parkinson's disease and mutations in the OPA1 gene. The study of neurons differentiated by these iPS cells allowed to identify mitochondrial defects at the base of neuronal dysfunctions and to identify for the first time how the degeneration of dopaminergic neurons also depends on a moving mode of cell death called necroptosis. The investigators therefore propose to establish lines of iPS cells from patients with genetic mutations responsible for neurological and neurodegenerative diseases to generate neuronal and glial models in vitro for the study of pathological mechanisms and the validation of new future experimental therapies.

Conditions

Neurodegenerative Diseases

Keywords

iPS; genetic mutations; neurodegenerative diseases; experimental therapeutic approaches; molecular processes

Outcome Measures

Primary Outcomes (1)

• Study of Neurodegenerative Diseases Induced Stem Cells (iPS) in Patients and Healthy Family Controls.

  1.Neurology consulting Clinical valuation

  10 days

Secondary Outcomes (1)

• Study of Neurodegenerative Diseases Induced Stem Cells (iPS) in Patients and Healthy Family Controls.

  1 day

Other Outcomes (1)

• Study of Neurodegenerative Diseases Induced Stem Cells (iPS) in Patients and Healthy Family Controls.

  2 years

Interventions

Study of Neurodegenerative Diseases Induced Stem Cells GENETIC

The aim of this study is to generate iPS-induced stem cell lines from patients with neurological and neurodegenerative diseases to differentiate into neurons and glial cells to study the pathological cellular and molecular processes of these diseases. These in vitro cultures will also be used to validate molecules or experimental therapeutic approaches. IPS cells will be generated by the reprogramming of isolated 10-mL cells of peripheral venous blood.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Following a Neurological visit a Genetic Counseling is performed and the molecular test to be performed is identified. A blood sample is taken after signing an informed consent form (informed consent Neuromed version 12.02.2015) for the diagnostic study. The Molecular analyzes are carried out and If the molecular diagnosis has identified a gene and / or a variant of interest compatible with the clinical phenotype the mononuclear cells of the blood will be reprogrammed in iPS stem cells. iPS stem cells will be differentiated into neurons and glia for the study of the pathological mechanisms underlying neuropathology.

You may qualify if:

• Clinical diagnosis of neurodegenerative disease
• identification of gene variant of interest compatible with the clinical phenotype.

You may not qualify if:

• no identification of gene variant of interest compatible with the clinical phenotype.

Sponsors & Collaborators

• Neuromed IRCCS: lead
• San Raffaele University Hospital, Italy: collaborator

Study Sites (1)

Stefano Gambardella

Pozzilli, Isernia, 86077, Italy

RECRUITING

MeSH Terms

Conditions

Neurodegenerative Diseases

Condition Hierarchy (Ancestors)

Nervous System Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: September 17, 2018
• First Posted: September 24, 2018
• Study Start: December 1, 2019
• Primary Completion: December 1, 2022
• Study Completion: October 1, 2025
• Last Updated: April 28, 2022

Record last verified: 2022-04

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)