Ignite Creation Date:
2025-12-25 @ 12:40 AM
Ignite Modification Date:
2025-12-30 @ 12:11 PM
Study NCT ID:
NCT00840567
Status:
TERMINATED
Last Update Posted:
2013-07-11
First Post:
2009-02-09
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Skin and Blood Research Samples From Healthy Volunteers and Patients With Hematologic Diseases
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000755', 'term': 'Anemia, Sickle Cell'}], 'ancestors': [{'id': 'D000745', 'term': 'Anemia, Hemolytic, Congenital'}, {'id': 'D000743', 'term': 'Anemia, Hemolytic'}, {'id': 'D000740', 'term': 'Anemia'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D006453', 'term': 'Hemoglobinopathies'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D001800', 'term': 'Blood Specimen Collection'}], 'ancestors': [{'id': 'D013048', 'term': 'Specimen Handling'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D011677', 'term': 'Punctures'}, {'id': 'D013514', 'term': 'Surgical Procedures, Operative'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NON_RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'BASIC_SCIENCE', 'interventionModel': 'PARALLEL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 7}}, 'statusModule': {'whyStopped': 'Key samples protocols will be provided by a collaborator and we were not able to produce IPS lines from human fibroblasts.', 'overallStatus': 'TERMINATED', 'startDateStruct': {'date': '2009-02'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2013-07', 'completionDateStruct': {'date': '2010-10', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2013-07-09', 'studyFirstSubmitDate': '2009-02-09', 'studyFirstSubmitQcDate': '2009-02-09', 'lastUpdatePostDateStruct': {'date': '2013-07-11', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2009-02-10', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2010-10', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Obtain skin biopsy samples from normal healthy volunteers and patients with a benign, inherited hematologic disease to created induced pluripotent stem cells', 'timeFrame': '1 year', 'description': 'Only one biopsy but analysis may take one year.'}], 'secondaryOutcomes': [{'measure': 'Define the efficiency of homologous recombination in induced pluripotent stem cells derived from skin biopsy samples.', 'timeFrame': '1 year', 'description': 'Only one blood draw and biopsy but analysis may take one year.'}, {'measure': 'Define the efficiency of homologous recombination in human embryonic stem cells using NIH-approved cell lines', 'timeFrame': '1 year', 'description': 'Only one blood draw and biopsy but analysis may take one year.'}, {'measure': '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', 'timeFrame': '1 year', 'description': 'Only one blood draw and biopsy but analysis may take one year.'}, {'measure': 'Obtain blood samples to confirm genetic mutations in patients with an inherited hematologic disease', 'timeFrame': '1 year', 'description': 'Only one blood draw but analysis may take one year.'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Stem cells'], 'conditions': ['Anemia, Sickle Cell']}, 'referencesModule': {'references': [{'pmid': '18157115', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18600223', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18786420', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '17554338', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18035408', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18818365', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '17554336', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18371436', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18786421', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18594521', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18371415', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18849973', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18691744', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18063756', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '11955444', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '16357205', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18845712', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '18773452', 'type': 'BACKGROUND', 'citation': '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.'}], 'seeAlsoLinks': [{'url': 'http://www.siteman.wustl.edu', 'label': 'Alvin J. Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine'}]}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': '* 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.\n* To define the efficiency of homologous recombination in induced pluripotent stem cells derived from skin biopsy samples.\n* To define the efficiency of homologous recombination in human embryonic stem cells using NIH-approved cell lines.\n* 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.\n* 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.\n* To obtain blood samples to confirm genetic mutations in patients with an inherited hematologic disease (and to confirm no mutations in healthy volunteers).'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Age ≥ 18.\n* No active systemic skin infection at biopsy site.\n* No allergy to lidocaine or other local anesthetics\n\nExclusion Criteria:\n\nALL PATIENTS\n\n* History of a bleeding disorder, easy bleeding, or bruising.\n* Inability or unwillingness to provide informed consent.\n\nSICKLE CELL PATIENTS\n\n* Platelets ≤ 50,000\n* INR ≥ 1.5\n* Currently bing given intravenous heparin'}, 'identificationModule': {'nctId': 'NCT00840567', 'briefTitle': 'Skin and Blood Research Samples From Healthy Volunteers and Patients With Hematologic Diseases', 'organization': {'class': 'OTHER', 'fullName': 'Washington University School of Medicine'}, 'officialTitle': 'Acquisition of Skin Biopsies and Blood Samples From Normal Volunteers and Patients With Benign, Inherited Hematologic Diseases for Research Purposes', 'orgStudyIdInfo': {'id': '08-1409'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'OTHER', 'label': 'Healthy Volunteers', 'description': 'To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)', 'interventionNames': ['Procedure: Skin biopsy', 'Procedure: Blood draw & sample']}, {'type': 'OTHER', 'label': 'Patients with benign, inherited hematologic disease', 'description': 'To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon)', 'interventionNames': ['Procedure: Skin biopsy', 'Procedure: Blood draw & sample']}], 'interventions': [{'name': 'Skin biopsy', 'type': 'PROCEDURE', 'armGroupLabels': ['Healthy Volunteers', 'Patients with benign, inherited hematologic disease']}, {'name': 'Blood draw & sample', 'type': 'PROCEDURE', 'armGroupLabels': ['Healthy Volunteers', 'Patients with benign, inherited hematologic disease']}]}, 'contactsLocationsModule': {'locations': [{'zip': '63110', 'city': 'St Louis', 'state': 'Missouri', 'country': 'United States', 'facility': 'Washington University School of Medicine', 'geoPoint': {'lat': 38.62727, 'lon': -90.19789}}], 'overallOfficials': [{'name': 'Timothy Ley, M.D.', 'role': 'STUDY_CHAIR', 'affiliation': 'Washington Univerisity School of Medicine'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Washington University School of Medicine', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}