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

This study has been terminated.
(Key samples protocols will be provided by a collaborator and we were not able to produce IPS lines from human fibroblasts.)
Sponsor:
Information provided by (Responsible Party):
Washington University School of Medicine
ClinicalTrials.gov Identifier:
NCT00840567
First received: February 9, 2009
Last updated: July 9, 2013
Last verified: July 2013

February 9, 2009
July 9, 2013
February 2009
October 2010   (final data collection date for primary outcome measure)
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 ] [ Designated as safety issue: No ]
Only one biopsy but analysis may take one year.
To obtain skin biopsy samples from normal healthy volunteers and sickle cell anemia patients to create induced pluripotent stem cells. [ Time Frame: 1 year ] [ Designated as safety issue: No ]
Complete list of historical versions of study NCT00840567 on ClinicalTrials.gov Archive Site
  • Define the efficiency of homologous recombination in induced pluripotent stem cells derived from skin biopsy samples. [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    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 [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    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 [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    Only one blood draw and biopsy but analysis may take one year.
  • Obtain blood samples to confirm genetic mutations in patients with an inherited hematologic disease [ Time Frame: 1 year ] [ Designated as safety issue: No ]
    Only one blood draw but analysis may take one year.
  • To define the efficiency of homologous recombination in induced pluripotent stem cells derived from skin biopsy samples [ Time Frame: 1 year ] [ Designated as safety issue: No ]
  • To obtain blood samples to confirm genetic mutations in sickle cell anemia patients (and no mutations in healthy volunteers). [ Time Frame: 1 year ] [ Designated as safety issue: No ]
Not Provided
Not Provided
 
Skin and Blood Research Samples From Healthy Volunteers and Patients With Hematologic Diseases
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.

  • 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).
Interventional
Not Provided
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: Open Label
Primary Purpose: Basic Science
Anemia, Sickle Cell
  • Procedure: Skin biopsy
  • Procedure: Blood draw & sample
  • Healthy Volunteers
    To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)
    Interventions:
    • Procedure: Skin biopsy
    • Procedure: Blood draw & sample
  • 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)
    Interventions:
    • Procedure: Skin biopsy
    • Procedure: Blood draw & sample

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Terminated
7
October 2010
October 2010   (final data collection date for primary outcome measure)

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
Both
18 Years and older
Yes
Contact information is only displayed when the study is recruiting subjects
United States
 
NCT00840567
08-1409
No
Washington University School of Medicine
Washington University School of Medicine
Not Provided
Study Chair: Timothy Ley, M.D. Washington Univerisity School of Medicine
Washington University School of Medicine
July 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP