Skin and Blood Research Samples From Healthy Volunteers and Patients With Hematologic Diseases

Study Overview
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Brief Summary
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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
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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).

Official Title
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Acquisition of Skin Biopsies and Blood Samples From Normal Volunteers and Patients With Benign, Inherited Hematologic Diseases for Research Purposes

Conditions
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Anemia, Sickle Cell

Intervention / Treatment
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* Procedure: Skin biopsy
* Procedure: Blood draw & sample


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Basic Science
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Healthy Volunteers<br>To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon) | Procedure: Skin biopsy<br> <br> Procedure: Blood draw & sample<br> <br> |
| Other: Patients with benign, inherited hematologic disease<br>To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon) | Procedure: Skin biopsy<br> <br> Procedure: Blood draw & sample<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Obtain skin biopsy samples from normal healthy volunteers and patients with a benign, inherited hematologic disease to created induced pluripotent stem cells | Only one biopsy but analysis may take one year. | 1 year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Define the efficiency of homologous recombination in induced pluripotent stem cells derived from skin biopsy samples. | Only one blood draw and biopsy but analysis may take one year. | 1 year | 
| Define the efficiency of homologous recombination in human embryonic stem cells using NIH-approved cell lines | Only one blood draw and biopsy but analysis may take one year. | 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 | Only one blood draw and biopsy but analysis may take one year. | 1 year | 
| Obtain blood samples to confirm genetic mutations in patients with an inherited hematologic disease | Only one blood draw but analysis may take one year. | 1 year | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Stem cells