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Trial record 8 of 243823 for:    Diseases

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

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ClinicalTrials.gov Identifier: NCT03682458
Recruitment Status : Not yet recruiting
First Posted : September 24, 2018
Last Update Posted : March 13, 2019
Sponsor:
Collaborator:
San Raffaele University Hospital, Italy
Information provided by (Responsible Party):
Stefano Gambardella, Neuromed IRCCS

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.


Condition or disease Intervention/treatment
Neurodegenerative Diseases Genetic: Study of Neurodegenerative Diseases Induced Stem Cells

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Study of Neurological Pathological Mechanisms of and Neurodegenerative Diseases in Neurons and Glia Derived From Induced Stem Cells (iPS) in Patients and Healthy Family Controls.
Estimated Study Start Date : October 1, 2019
Estimated Primary Completion Date : October 1, 2020
Estimated Study Completion Date : October 1, 2022

Resource links provided by the National Library of Medicine



Intervention Details:
  • Genetic: Study of Neurodegenerative Diseases Induced Stem Cells
    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.


Primary Outcome Measures :
  1. Study of Neurodegenerative Diseases Induced Stem Cells (iPS) in Patients and Healthy Family Controls. [ Time Frame: 10 days ]
    1.Neurology consulting Clinical valuation


Secondary Outcome Measures :
  1. Study of Neurodegenerative Diseases Induced Stem Cells (iPS) in Patients and Healthy Family Controls. [ Time Frame: 1 day ]
    2. Genetic Counseling family history


Other Outcome Measures:
  1. Study of Neurodegenerative Diseases Induced Stem Cells (iPS) in Patients and Healthy Family Controls. [ Time Frame: 2 years ]

    3. Molecular testing

    • Molecular analysis
    • iPS stem cells will be differentiated into neurons and glia for the study of the pathological mechanisms underlying neuropathology.



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

Criteria

Inclusion Criteria:

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

Exclusion Criteria:

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03682458


Locations
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Italy
Stefano Gambardella
Pozzilli, Isernia, Italy, 86077
Sponsors and Collaborators
Neuromed IRCCS
San Raffaele University Hospital, Italy

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Responsible Party: Stefano Gambardella, Principal Investigator, Neuromed IRCCS
ClinicalTrials.gov Identifier: NCT03682458     History of Changes
Other Study ID Numbers: CGM-02
First Posted: September 24, 2018    Key Record Dates
Last Update Posted: March 13, 2019
Last Verified: March 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Stefano Gambardella, Neuromed IRCCS:
iPS
genetic mutations
neurodegenerative diseases
experimental therapeutic approaches
molecular processes

Additional relevant MeSH terms:
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Neurodegenerative Diseases
Nervous System Diseases