Acquisition of Skin Biopsies and Blood Samples From Normal Volunteers and Patients With Benign, Inherited Hematologic Diseases for Research Purposes
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Anemia, Sickle Cell
- Sponsor
- Washington University School of Medicine
- Enrollment
- 7
- Locations
- 1
- Primary Endpoint
- Obtain skin biopsy samples from normal healthy volunteers and patients with a benign, inherited hematologic disease to created induced pluripotent stem cells
- Status
- Terminated
- Last Updated
- 12 years ago
Overview
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).
Investigators
Eligibility Criteria
Inclusion Criteria
- •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
Outcomes
Primary Outcomes
Obtain skin biopsy samples from normal healthy volunteers and patients with a benign, inherited hematologic disease to created induced pluripotent stem cells
Time Frame: 1 year
Only one biopsy but analysis may take one year.
Secondary Outcomes
- Obtain blood samples to confirm genetic mutations in patients with an inherited hematologic disease(1 year)
- Define the efficiency of homologous recombination in induced pluripotent stem cells derived from skin biopsy samples.(1 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)
- Define the efficiency of homologous recombination in human embryonic stem cells using NIH-approved cell lines(1 year)