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

NCT ID: NCT00840567

Last Updated: 2013-07-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

TERMINATED

Clinical Phase

NA

Total Enrollment

7 participants

Study Classification

INTERVENTIONAL

Study Start Date

2009-02-28

Study Completion Date

2010-10-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

* 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).

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Anemia, Sickle Cell

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Healthy Volunteers

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

Group Type OTHER

Skin biopsy

Intervention Type PROCEDURE

Blood draw & sample

Intervention Type PROCEDURE

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)

Group Type OTHER

Skin biopsy

Intervention Type PROCEDURE

Blood draw & sample

Intervention Type PROCEDURE

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Skin biopsy

Intervention Type PROCEDURE

Blood draw & sample

Intervention Type PROCEDURE

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Washington University School of Medicine

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Timothy Ley, M.D.

Role: STUDY_CHAIR

Washington Univerisity School of Medicine

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Washington University School of Medicine

St Louis, Missouri, United States

Site Status

Countries

Review the countries where the study has at least one active or historical site.

United States

References

Explore related publications, articles, or registry entries linked to this study.

Park IH, Zhao R, West JA, Yabuuchi A, Huo H, Ince TA, Lerou PH, Lensch MW, Daley GQ. Reprogramming of human somatic cells to pluripotency with defined factors. Nature. 2008 Jan 10;451(7175):141-6. doi: 10.1038/nature06534. Epub 2007 Dec 23.

Reference Type BACKGROUND
PMID: 18157115 (View on PubMed)

Park IH, Lerou PH, Zhao R, Huo H, Daley GQ. Generation of human-induced pluripotent stem cells. Nat Protoc. 2008;3(7):1180-6. doi: 10.1038/nprot.2008.92.

Reference Type BACKGROUND
PMID: 18600223 (View on PubMed)

Maherali N, Ahfeldt T, Rigamonti A, Utikal J, Cowan C, Hochedlinger K. A high-efficiency system for the generation and study of human induced pluripotent stem cells. Cell Stem Cell. 2008 Sep 11;3(3):340-5. doi: 10.1016/j.stem.2008.08.003.

Reference Type BACKGROUND
PMID: 18786420 (View on PubMed)

Okita K, Ichisaka T, Yamanaka S. Generation of germline-competent induced pluripotent stem cells. Nature. 2007 Jul 19;448(7151):313-7. doi: 10.1038/nature05934. Epub 2007 Jun 6.

Reference Type BACKGROUND
PMID: 17554338 (View on PubMed)

Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, Yamanaka S. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell. 2007 Nov 30;131(5):861-72. doi: 10.1016/j.cell.2007.11.019.

Reference Type BACKGROUND
PMID: 18035408 (View on PubMed)

Stadtfeld M, Nagaya M, Utikal J, Weir G, Hochedlinger K. Induced pluripotent stem cells generated without viral integration. Science. 2008 Nov 7;322(5903):945-9. doi: 10.1126/science.1162494. Epub 2008 Sep 25.

Reference Type BACKGROUND
PMID: 18818365 (View on PubMed)

Wernig M, Meissner A, Foreman R, Brambrink T, Ku M, Hochedlinger K, Bernstein BE, Jaenisch R. In vitro reprogramming of fibroblasts into a pluripotent ES-cell-like state. Nature. 2007 Jul 19;448(7151):318-24. doi: 10.1038/nature05944. Epub 2007 Jun 6.

Reference Type BACKGROUND
PMID: 17554336 (View on PubMed)

Brambrink T, Foreman R, Welstead GG, Lengner CJ, Wernig M, Suh H, Jaenisch R. Sequential expression of pluripotency markers during direct reprogramming of mouse somatic cells. Cell Stem Cell. 2008 Feb 7;2(2):151-9. doi: 10.1016/j.stem.2008.01.004.

Reference Type BACKGROUND
PMID: 18371436 (View on PubMed)

Hockemeyer D, Soldner F, Cook EG, Gao Q, Mitalipova M, Jaenisch R. A drug-inducible system for direct reprogramming of human somatic cells to pluripotency. Cell Stem Cell. 2008 Sep 11;3(3):346-353. doi: 10.1016/j.stem.2008.08.014.

Reference Type BACKGROUND
PMID: 18786421 (View on PubMed)

Wernig M, Lengner CJ, Hanna J, Lodato MA, Steine E, Foreman R, Staerk J, Markoulaki S, Jaenisch R. A drug-inducible transgenic system for direct reprogramming of multiple somatic cell types. Nat Biotechnol. 2008 Aug;26(8):916-24. doi: 10.1038/nbt1483. Epub 2008 Jul 1.

Reference Type BACKGROUND
PMID: 18594521 (View on PubMed)

Wernig M, Meissner A, Cassady JP, Jaenisch R. c-Myc is dispensable for direct reprogramming of mouse fibroblasts. Cell Stem Cell. 2008 Jan 10;2(1):10-2. doi: 10.1016/j.stem.2007.12.001. Epub 2007 Dec 13. No abstract available.

Reference Type BACKGROUND
PMID: 18371415 (View on PubMed)

Huangfu D, Osafune K, Maehr R, Guo W, Eijkelenboom A, Chen S, Muhlestein W, Melton DA. Induction of pluripotent stem cells from primary human fibroblasts with only Oct4 and Sox2. Nat Biotechnol. 2008 Nov;26(11):1269-75. doi: 10.1038/nbt.1502. Epub 2008 Oct 12.

Reference Type BACKGROUND
PMID: 18849973 (View on PubMed)

Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ. Disease-specific induced pluripotent stem cells. Cell. 2008 Sep 5;134(5):877-86. doi: 10.1016/j.cell.2008.07.041. Epub 2008 Aug 7.

Reference Type BACKGROUND
PMID: 18691744 (View on PubMed)

Hanna J, Wernig M, Markoulaki S, Sun CW, Meissner A, Cassady JP, Beard C, Brambrink T, Wu LC, Townes TM, Jaenisch R. Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin. Science. 2007 Dec 21;318(5858):1920-3. doi: 10.1126/science.1152092. Epub 2007 Dec 6.

Reference Type BACKGROUND
PMID: 18063756 (View on PubMed)

Kyba M, Perlingeiro RC, Daley GQ. HoxB4 confers definitive lymphoid-myeloid engraftment potential on embryonic stem cell and yolk sac hematopoietic progenitors. Cell. 2002 Apr 5;109(1):29-37. doi: 10.1016/s0092-8674(02)00680-3.

Reference Type BACKGROUND
PMID: 11955444 (View on PubMed)

Wang Y, Yates F, Naveiras O, Ernst P, Daley GQ. Embryonic stem cell-derived hematopoietic stem cells. Proc Natl Acad Sci U S A. 2005 Dec 27;102(52):19081-6. doi: 10.1073/pnas.0506127102. Epub 2005 Dec 15.

Reference Type BACKGROUND
PMID: 16357205 (View on PubMed)

Okita K, Nakagawa M, Hyenjong H, Ichisaka T, Yamanaka S. Generation of mouse induced pluripotent stem cells without viral vectors. Science. 2008 Nov 7;322(5903):949-53. doi: 10.1126/science.1164270. Epub 2008 Oct 9.

Reference Type BACKGROUND
PMID: 18845712 (View on PubMed)

Hotta A, Ellis J. Retroviral vector silencing during iPS cell induction: an epigenetic beacon that signals distinct pluripotent states. J Cell Biochem. 2008 Nov 1;105(4):940-8. doi: 10.1002/jcb.21912.

Reference Type BACKGROUND
PMID: 18773452 (View on PubMed)

Related Links

Access external resources that provide additional context or updates about the study.

http://www.siteman.wustl.edu

Alvin J. Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

08-1409

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

SCRIPT: Sickle Cell Risk in Pregnancy Tool
NCT06529042 ENROLLING_BY_INVITATION
Gene Transfer for Patients With Sickle Cell Disease
NCT02186418 TERMINATED PHASE1/PHASE2
Fetal Hemoglobin Induction Treatment Metformin
NCT02981329 COMPLETED EARLY_PHASE1