Anemia, Sickle CellNCT00840567
Skin and Blood Research Samples From Healthy Volunteers and Patients With Hematologic Diseases
A study testing Skin biopsy and Blood draw & sample in people with Anemia, Sickle Cell, run by Washington University School of Medicine at 1 site in United States.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Anemia, Sickle Cell
- What is being tested?
- Skin biopsy and Blood draw & sample
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 7 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2009to Oct 2010
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Age ≥ 18.
- No active systemic skin infection at biopsy site.
- No allergy to lidocaine or other local anesthetics
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
Washington University School of Medicine
St Louis, Missouri, 63110
About this study
Official title: 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.
Read the 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).
- Conditions
- Anemia, Sickle Cell
- Being tested
- Skin biopsy, Blood draw & sample
- Keywords
- Stem cells
- Medical subject headings
- Anemia, Sickle Cell
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin biopsyProcedure or surgery
Blood draw & sampleProcedure or surgery
| Study group | Role | What they receive |
|---|---|---|
| Healthy Volunteers | Other | To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon) Receives: Procedure: Skin biopsy; Procedure: Blood draw & sample |
| Patients with benign, inherited hematologic disease | Other | To obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon) Receives: Procedure: Skin biopsy; Procedure: Blood draw & sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Obtain skin biopsy samples from normal healthy volunteers and patients with a benign, inherited hematologic disease to created induced pluripotent stem cells
Only one biopsy but analysis may take one year.
Measured: 1 year
Secondary outcomes (4)
Define the efficiency of homologous recombination in induced pluripotent stem cells derived from skin biopsy samples.
Only one blood draw and biopsy but analysis may take one year.
Measured: 1 year
Define the efficiency of homologous recombination in human embryonic stem cells using NIH-approved cell lines
Only one blood draw and biopsy but analysis may take one year.
Measured: 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
Only one blood draw and biopsy but analysis may take one year.
Measured: 1 year
Obtain blood samples to confirm genetic mutations in patients with an inherited hematologic disease
Only one blood draw but analysis may take one year.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Feb 2009 (estimated)
- Study startFeb 2009
- Primary completionOct 2010
- Study completionOct 2010
Why it stopped: Key samples protocols will be provided by a collaborator and we were not able to produce IPS lines from human fibroblasts.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (18)Papers the sponsor has linked to this study.
- Other trials for Anemia, Sickle CellStudies of the same condition, open and under way.
- More trials run by Washington University School of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 7 participants (actual)
Sponsor and investigators
- Lead sponsor
- Washington University School of Medicine
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Timothy Ley, M.D., Study chair, Washington Univerisity School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00840567
- Sponsor's protocol ID
- 08-1409
- Status last verified
- Jul 2013
- First submitted
- 9 Feb 2009
- Last updated
- 11 Jul 2013
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 18157115Park 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.
PubMed 18600223Maherali 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.
PubMed 18786420Okita 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.
PubMed 17554338Takahashi 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.
PubMed 18035408Stadtfeld 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.
PubMed 18818365Wernig 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.
PubMed 17554336Brambrink 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.
PubMed 18371436Hockemeyer 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.
PubMed 18786421Wernig 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.
PubMed 18594521Wernig 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.
PubMed 18371415Huangfu 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.
PubMed 18849973Park 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.
PubMed 18691744Hanna 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.
PubMed 18063756Kyba 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.
PubMed 11955444
Study at a glance
From the registry record, last updated by the sponsor on 11 Jul 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Acquisition of Skin Biopsies and Blood Samples From Normal Volunteers and Patients With Benign, Inherited Hematologic Diseases for Research Purposes
- ClinicalTrials.gov ID
- NCT00840567
- Acronym / sponsor ID
- 08-1409
- Conditions
- Anemia, Sickle Cell
- Keywords
- Stem cells
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: Key samples protocols will be provided by a collaborator and we were not able to produce IPS lines from human fibroblasts.
- Enrolment
- 7 participants (actual)
- Lead sponsor
- Washington University School of MedicineUniversity, hospital or other
- Study start
- Feb 2009
- Primary completion
- Oct 2010 (actual)
- Study completion
- Oct 2010 (actual)
- First posted
- 10 Feb 2009 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
- 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 design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Healthy Volunteers | Other | Procedure: Skin biopsy, Procedure: Blood draw & sampleTo obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon) |
| Patients with benign, inherited hematologic disease | Other | Procedure: Skin biopsy, Procedure: Blood draw & sampleTo obtain a one time skin sample (4 ml skin punch biopsy) and one time blood sample (1 teaspoon) |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- Age ≥ 18.
- No active systemic skin infection at biopsy site.
- No allergy to lidocaine or other local anesthetics
Key exclusion criteria (7 listed)
- ALL PATIENTS
- History of a bleeding disorder, easy bleeding, or bruising.
- Inability or unwillingness to provide informed consent.
- SICKLE CELL PATIENTS
- Platelets ≤ 50,000
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Skin biopsy | Procedure or surgery | Healthy Volunteers, Patients with benign, inherited hematologic disease |
| Blood draw & sample | Procedure or surgery | Healthy Volunteers, Patients with benign, inherited hematologic disease |
Primary outcome
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.
4 secondary outcomes
Define the efficiency of homologous recombination in induced pluripotent stem cells derived from skin biopsy samples.
Time frame: 1 year
Define the efficiency of homologous recombination in human embryonic stem cells using NIH-approved cell lines
Time frame: 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
Obtain blood samples to confirm genetic mutations in patients with an inherited hematologic disease
Time frame: 1 year
Results and safety
The study was stopped early (reason given: Key samples protocols will be provided by a collaborator and we were not able to produce IPS lines from human fibroblasts.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Jul 2013.
- Background: PubMed 18157115Park 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.
- Background: PubMed 18600223Park 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.
- Background: PubMed 18786420Maherali 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.
- Background: PubMed 17554338Okita 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.
- Background: PubMed 18035408Takahashi 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.
- Background: PubMed 18818365Stadtfeld 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.
- Background: PubMed 17554336Wernig 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.
- Background: PubMed 18371436Brambrink 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.
- Background: PubMed 18786421Hockemeyer 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.
- Background: PubMed 18594521Wernig 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.
- Background: PubMed 18371415Wernig 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.
- Background: PubMed 18849973Huangfu 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.
- Alvin J. Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of MedicineLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Timothy Ley, M.D. study chair
Washington Univerisity School of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Skin biopsy and Blood draw & sample in people with Anemia, Sickle Cell, run by Washington University School of Medicine at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 11 Jul 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Key samples protocols will be provided by a collaborator and we were not able to produce IPS lines from human fibroblasts.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the 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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00840567, which also lists 18 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Jul 2013.