Description Module
The Description Module contains narrative descriptions of the clinical trial, including a brief summary and detailed description. These descriptions provide important information about the study's purpose, methodology, and key details in language accessible to both researchers and the general public.
Description Module path is as follows:
Study -> Protocol Section -> Description Module
Description Module
Ignite Creation Date:
2025-12-25 @ 12:40 AM
Ignite Modification Date:
2025-12-25 @ 12:40 AM
NCT ID:
NCT00840567
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).
Study:
NCT00840567
Study Brief:
Protocol Section:
NCT00840567