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
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|
|Study Type :||Observational|
|Estimated Enrollment :||20 participants|
|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|
- Diagnostic Test: Collection of Stem Cells
One time collection of a 20 ml blood sample
- 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.
- 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.
- 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.
- 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.
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
|United States, District of Columbia|
|Children's National Medical Center|
|Washington, District of Columbia, United States, 20010|