Acquisition of Skin Biopsies and Blood Samples From Normal Volunteers and Patients With Benign, Inherited Hematologic Diseases for Research Purposes
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 7
- 试验地点
- 2
- 主要终点
- Obtain skin biopsy samples from normal healthy volunteers and patients with a benign, inherited hematologic disease to created induced pluripotent stem cells
研究概览
简要总结
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.
详细描述
- 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).
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •No active systemic skin infection at biopsy site.
- •No allergy to lidocaine or other local anesthetics
排除标准
- •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
研究组 & 干预措施
Healthy Volunteers
To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)
干预措施: Skin biopsy (Procedure)
Healthy Volunteers
To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)
干预措施: Blood draw & sample (Procedure)
Patients with benign, inherited hematologic disease
To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)
干预措施: Skin biopsy (Procedure)
Patients with benign, inherited hematologic disease
To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)
干预措施: Blood draw & sample (Procedure)
结局指标
主要结局
Obtain skin biopsy samples from normal healthy volunteers and patients with a benign, inherited hematologic disease to created induced pluripotent stem cells
时间窗: 1 year
Only one biopsy but analysis may take one year.
次要结局
- 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)