Ignite Creation Date:
2025-12-25 @ 12:40 AM
Ignite Modification Date:
2025-12-30 @ 12:11 PM
Study NCT ID:
NCT00840567
Status:
TERMINATED
Last Update Posted:
2013-07-11
First Post:
2009-02-09
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Skin and Blood Research Samples From Healthy Volunteers and Patients With Hematologic Diseases
Sponsor:
Washington University School of Medicine
Organization:
Study Overview
Official Title:
Acquisition of Skin Biopsies and Blood Samples From Normal Volunteers and Patients With Benign, Inherited Hematologic Diseases for Research Purposes
Status:
TERMINATED
Status Verified Date:
2013-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Key samples protocols will be provided by a collaborator and we were not able to produce IPS lines from human fibroblasts.
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The investigators plan to obtain skin and blood samples from healthy volunteers and patients with a benign, inherited hematologic disease to use for research to use homologous recombination to correct β-globin gene mutations in therapeutically useful cells, like autologous induced pluripotent stem cells from sickle cell anemia patients.
Detailed Description:
* To obtain skin biopsy samples from normal healthy volunteers and patients with a benign, inherited hematologic disease, such as sickle cell anemia, to create induced pluripotent stem cells. Pluripotency will be confirmed by injecting potential iPS cell lines into immunodeficient mice, assessing the ability of each line to cause cystic teratomas in recipient mice.
* To define the efficiency of homologous recombination in induced pluripotent stem cells derived from skin biopsy samples.
* To define the efficiency of homologous recombination in human embryonic stem cells using NIH-approved cell lines.
* To establish the genetic consequences of the derivation of human induced pluripotent cells in normal controls or patients with benign, inherited, hematologic diseases, by genomic analysis, including whole genome sequencing.
* To establish the genetic consequences of homologous recombination in human induced pluripotent stem cells and embryonic stem cells by genomic analysis, including whole genome sequencing.
* To obtain blood samples to confirm genetic mutations in patients with an inherited hematologic disease (and to confirm no mutations in healthy volunteers).
* To define the efficiency of homologous recombination in induced pluripotent stem cells derived from skin biopsy samples.
* To define the efficiency of homologous recombination in human embryonic stem cells using NIH-approved cell lines.
* To establish the genetic consequences of the derivation of human induced pluripotent cells in normal controls or patients with benign, inherited, hematologic diseases, by genomic analysis, including whole genome sequencing.
* To establish the genetic consequences of homologous recombination in human induced pluripotent stem cells and embryonic stem cells by genomic analysis, including whole genome sequencing.
* To obtain blood samples to confirm genetic mutations in patients with an inherited hematologic disease (and to confirm no mutations in healthy volunteers).
Study Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: