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

The Washington University

Status: Terminated

Conditions: Anemia, Sickle Cell

Treatments: Procedure: Skin biopsy; Procedure: Blood draw & sample

Study type: Interventional

Funder types: Other

Identifiers

NCT00840567

08-1409

Details and patient eligibility

About

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.

Full 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).

Enrollment: 7 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Basic Science

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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7 participants in 2 patient groups

Healthy Volunteers

Other group

Description:

To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)

Treatment:

Procedure: Blood draw & sample

Procedure: Skin biopsy

Patients with benign, inherited hematologic disease

Other group

Description:

To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)

Treatment:

Procedure: Blood draw & sample

Procedure: Skin biopsy