Anemia, Sickle Cell
Conditions
Keywords
Stem cells
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).
Interventions
PROCEDURESkin biopsy
PROCEDUREBlood draw & sample
Sponsors
Washington University School of Medicine
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Age ≥ 18. * No active systemic skin infection at biopsy site. * No allergy to lidocaine or other local anesthetics
Exclusion criteria
ALL PATIENTS * History of a bleeding disorder, easy bleeding, or bruising. * Inability or unwillingness to provide informed consent. SICKLE CELL PATIENTS * Platelets ≤ 50,000 * INR ≥ 1.5 * Currently bing given intravenous heparin
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Obtain skin biopsy samples from normal healthy volunteers and patients with a benign, inherited hematologic disease to created induced pluripotent stem cells | 1 year | Only one biopsy but analysis may take one year. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Define the efficiency of homologous recombination in induced pluripotent stem cells derived from skin biopsy samples. | 1 year | Only one blood draw and biopsy but analysis may take one year. |
| Define the efficiency of homologous recombination in human embryonic stem cells using NIH-approved cell lines | 1 year | Only one blood draw and biopsy but analysis may take one year. |
| 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 | 1 year | Only one blood draw and biopsy but analysis may take one year. |
| Obtain blood samples to confirm genetic mutations in patients with an inherited hematologic disease | 1 year | Only one blood draw but analysis may take one year. |
Countries
United States
Outcome results
None listed