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Stem Cells in NF1 Patients With Tumors of the Central Nervous System

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ClinicalTrials.gov Identifier: NCT03332030
Recruitment Status : Suspended (Suspended due to cessation of funding)
First Posted : November 6, 2017
Last Update Posted : January 20, 2020
Sponsor:
Information provided by (Responsible Party):
Roger Packer, Children's Research Institute

Brief Summary:

Objectives 1. Establish an induced pluripotent stem cell (iPSC) bank for phenotypically well-characterized patients with NF1.

2. Develop isogenic NF1 wild-type (NF1+/+), NF1 heterozygous (NF1+/-) and NF1 homozygous (NF1-/-) iPSC lines from individual patients using CRISPR/CAS9 technology.

3. Differentiate and characterize disease-relevant brain cells such as excitatory and inhibitory neurons, astrocytes and oligodendrocytes from patient-specific iPSC lines.

4. Screen and identify the drug(s) that can reverse or alleviate the disease phenotypes.


Condition or disease Intervention/treatment
Neurofibromatosis Type 1 Tumors of the Central Nervous System Diagnostic Test: Collection of Stem Cells

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Study Type : Observational
Estimated Enrollment : 20 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Development of Stem Cell Lines in Children With Neurofibromatosis Type 1 and Tumors of the Central Nervous System
Actual Study Start Date : November 27, 2015
Estimated Primary Completion Date : July 1, 2021
Estimated Study Completion Date : July 1, 2023



Intervention Details:
  • Diagnostic Test: Collection of Stem Cells
    One time collection of a 20 ml blood sample


Primary Outcome Measures :
  1. The identity of mutations in NF1 genes will be measured. [ Time Frame: June 2019 ]
    The stem-cell characteristics of patient-derived induced pluripotent stem cell (iPSC) lines will be measured and reported.


Secondary Outcome Measures :
  1. The iPS cell lines with NF1 mutations will be engineered to inactivate the remaining NF1 wild-type or fix the mutant allele using CRISPR/CAS9 technology. [ Time Frame: June 2019 ]
    The status of NF1 gene will be measured for the isogenic NF1 wild-type (NF1+/+), NF1 heterozygous (NF1+/-) and NF1 homozygous (NF1-/-) iPSC lines. The stem cell characteristics of isogenic NF1 iPSC lines will be measured.

  2. Measure neuronal characteristics of neurons derived from iPSC lines. [ Time Frame: June 2019 ]
    Differentiate between and characterize the disease-relevant brain cells (excitatory and inhibitory interneurons, astrocytes, and oligodendrocytes) of the patient's iPSC (induced pluripotent stem cell) lines.

  3. Measure glial properties of glia derived from iPSC lines. [ Time Frame: June 2019 ]
    After characterizing the disease-relevant brain cells (excitatory and inhibitory neurons, astrocytes, and oligodendrocytes) from patient-specific iPSC lines, screen and identify the drug(s) that can reverse or alleviate the specific disease phenotypes.



Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
  1. NF1 with tumors in the central nervous system, asymptomatic (normal vision), not treated
  2. NF1 with tumors in the central nervous system, symptomatic, not treated/impending treatment
  3. NF1 with tumors in the central nervous system, symptomatic, treatment completed > 2 years ago.
  4. Non-NF1 full sibling for control purposes
Criteria

Inclusion Criteria:

  • Males or females of any age
  • Confirmed diagnosis of NF1
  • Willingness to submit blood sample and collect clinical history
  • MRI documentation confirming tumor location in the central nervous system.
  • For study group d, "Non-NF1 full sibling for control purposes" subject must be a full sibling of a patient with confirmed diagnosis of NF1 and willing to submit blood sample and collect clinical history.

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): NCT03332030


Locations
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United States, District of Columbia
Children's National Medical Center
Washington, District of Columbia, United States, 20010
Sponsors and Collaborators
Roger Packer

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Responsible Party: Roger Packer, Senior Vice President, Center for Neuroscience & Behavioral Health, Children's Research Institute
ClinicalTrials.gov Identifier: NCT03332030    
Other Study ID Numbers: Pro00006360
First Posted: November 6, 2017    Key Record Dates
Last Update Posted: January 20, 2020
Last Verified: January 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Neurofibromatoses
Neurofibromatosis 1
Neurofibroma
Central Nervous System Neoplasms
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplasms
Neoplastic Syndromes, Hereditary
Neurocutaneous Syndromes
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Peripheral Nervous System Diseases
Neuromuscular Diseases
Peripheral Nervous System Neoplasms
Nervous System Neoplasms
Neoplasms by Site