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

Not Applicable

Terminated

• Conditions: Anemia, Sickle Cell
• Interventions: Procedure: Skin biopsy; Procedure: Blood draw & sample

• Registration Number: NCT00840567
• Lead Sponsor: Washington University School of Medicine

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).

Study Timeline

• Study Start: 2009-02
• Study First Submitted: 2009-02-09
• Study First Submitted QC: 2009-02-09
• Study First Posted: 2009-02-10
• Primary Completion: 2010-10
• Study Completion: 2010-10
• Status Verified: 2013-07
• Last Update Submitted: 2013-07-09
• Last Update Posted: 2013-07-11

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 7

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Patients with benign, inherited hematologic disease	Skin biopsy	To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)
Healthy Volunteers	Blood draw & sample	To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)
Healthy Volunteers	Skin biopsy	To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)
Patients with benign, inherited hematologic disease	Blood draw & sample	To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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.
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.
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.
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.

Trial Locations

Locations (1)

Washington University School of Medicine; 🇺🇸 St. Louis, Missouri, United States