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

July 9, 2013 updated by: Washington University School of Medicine

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

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.

Study Overview

Status

Terminated

Conditions

Intervention / Treatment

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 Type

Interventional

Enrollment (Actual)

7

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Missouri
      • St. Louis, Missouri, United States, 63110
        • Washington University School of Medicine

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

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

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: Healthy Volunteers
To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)
Procedure: Skin biopsy
Procedure: Blood draw & sample
Other: 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)
Procedure: Skin biopsy
Procedure: Blood draw & sample

What is the study measuring?

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
Time Frame: 1 year
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.
Time Frame: 1 year
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
Time Frame: 1 year
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
Time Frame: 1 year
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
Time Frame: 1 year
Only one blood draw but analysis may take one year.
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Washington University School of Medicine

Investigators

  • Study Chair: Timothy Ley, M.D., Washington Univerisity School of Medicine

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

February 1, 2009

Primary Completion (Actual)

October 1, 2010

Study Completion (Actual)

October 1, 2010

Study Registration Dates

First Submitted

February 9, 2009

First Submitted That Met QC Criteria

February 9, 2009

First Posted (Estimate)

February 10, 2009

Study Record Updates

Last Update Posted (Estimate)

July 11, 2013

Last Update Submitted That Met QC Criteria

July 9, 2013

Last Verified

July 1, 2013

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 08-1409

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Anemia, Sickle Cell

Clinical Trials on Skin biopsy

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Belgium

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe