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

NCT03332030 | Withdrawn

• 1 other identifier: Pro00006360
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

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.

Conditions

Neurofibromatosis Type 1; Tumors of the Central Nervous System

Outcome Measures

Primary Outcomes (1)

• The identity of mutations in NF1 genes will be measured.

  The stem-cell characteristics of patient-derived induced pluripotent stem cell (iPSC) lines will be measured and reported.

  June 2019

Secondary Outcomes (3)

• 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.

  June 2019

• Measure neuronal characteristics of neurons derived from iPSC lines.

  June 2019

• Measure glial properties of glia derived from iPSC lines.

  June 2019

Interventions

Collection of Stem Cells DIAGNOSTIC_TEST

One time collection of a 20 ml blood sample

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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.

You may not qualify if:

• Does not have diagnosis of NF1 and CNS Tumor
• Does not have full-sibling with NF1 and CNS Tumor diagnosis (for unaffected sibling cohort)

Sponsors & Collaborators

• Roger Packer: lead

Study Sites (1)

Children's National Medical Center

Washington D.C., District of Columbia, 20010, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

20 ml of whole blood obtained to develop stem cell lines

MeSH Terms

Conditions

Neurofibromatosis 1; Central Nervous System Neoplasms

Condition Hierarchy (Ancestors)

Neurofibromatoses; Neurofibroma; 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; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Neoplasms; Neoplasms by Site

Study Officials

• Roger Packer, MD

  Children's National Research Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Senior Vice President, Center for Neuroscience & Behavioral Health

Study Record Dates

• First Submitted: June 26, 2017
• First Posted: November 6, 2017
• Study Start: November 27, 2015
• Primary Completion: February 5, 2024
• Study Completion: July 1, 2025
• Last Updated: February 7, 2024

Record last verified: 2024-02

Locations

US (1)