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
  Purpose

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.


Condition Intervention
Anemia, Sickle Cell
Procedure: Skin biopsy
Procedure: Blood draw & sample

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: Open Label
Primary Purpose: Basic Science
Official Title: Acquisition of Skin Biopsies and Blood Samples From Normal Volunteers and Patients With Benign, Inherited Hematologic Diseases for Research Purposes

Resource links provided by NLM:


Further study details as provided by Washington University School of Medicine:

Primary Outcome Measures:
  • 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.


Secondary Outcome Measures:
  • 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.


Enrollment: 7
Study Start Date: February 2009
Study Completion Date: October 2010
Primary Completion Date: October 2010 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
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
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

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).
  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00840567

Locations
United States, Missouri
Washington University School of Medicine
St. Louis, Missouri, United States, 63110
Sponsors and Collaborators
Washington University School of Medicine
Investigators
Study Chair: Timothy Ley, M.D. Washington Univerisity School of Medicine
  More Information

Additional Information:
Publications:
Maherali, N., Ahfeldt, T., Rigamonti, A., Utikal, J., Cowan, C. and Hochedlinger, K., A high-efficiency system for the generation and study of human induced pluripotent stem cells. Cell, 2008. 3(3): p. 340-345.

Responsible Party: Washington University School of Medicine
ClinicalTrials.gov Identifier: NCT00840567     History of Changes
Other Study ID Numbers: 08-1409
Study First Received: February 9, 2009
Last Updated: July 9, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Washington University School of Medicine:
Stem cells

Additional relevant MeSH terms:
Anemia
Anemia, Sickle Cell
Hematologic Diseases
Anemia, Hemolytic, Congenital
Anemia, Hemolytic
Hemoglobinopathies
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on July 24, 2014