Hirschsprung DiseaseNCT04476225
Induced Pluripotent Stem Cells for Disease Research
An observational study of Hirschsprung Disease, run by University of California, San Francisco at 1 site in United States.
Trial summary
The aim of this study is to determine the contribution of genetic factors to the pathogenesis of diseases, including diseases such as Parkinson's disease, Hirschsprung's disease, and autism. Read more about this study
- Who is it for?
- Ages 13 to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Hirschsprung Disease
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 15 Apr 2022to 3 Oct 2022
- Phase
- Observational
- 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 13 to 100 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals with Hirschsprung disease and their unaffacted family members
Who may be able to join
- Individuals with Hirschsprung disease
- Any disease severity accepted
- Individuals with or without other health issues accepted
- Unaffected / healthy relatives of individuals with Hirschsprung disease
Who cannot join
- Individuals who are unwilling or unable to provide blood sample
- Individuals who are unwilling or unable to provide informed consent
- Individuals who are outside the age range permitted for our study will be excluded. Our study will only perform blood draws from individuals ages 13 and above.
Trial locations and contacts
1 site in 1 country.
United States1 site
University of California, San Francisco
San Francisco, California, 94158
About this study
The aim of this study is to determine the contribution of genetic factors to the pathogenesis of diseases, including diseases such as Parkinson's disease, Hirschsprung's disease, and autism. Patient-derived cellular models of diseases will be developed, which will require the collection of blood samples from patients and healthy individuals in order to generate induced pluripotent stem cells (iPSCs) for the development of iPSC-derived human cell cultures. These human cellular models will be phenotyped using a variety of methods, including cellular, molecular, and biochemical assays. Because these human cellular models will retain the genetic background from the patients and control subjects, this will allow us to determine the contribution of genetics to disease phenotypes. Such disease-specific pluripotent stem cell lines will be invaluable tools for many basic and translational research applications, including pathophysiological studies in a developmental context, and innovation and screening of small molecule drugs capable of reversing the disease phenotype and potentially leading to a cure for a broad range of diseases, where appropriate in vitro or in vivo disease models do not exist.
- Conditions
- Hirschsprung Disease
- Keywords
- Hirschsprung Disease
- Medical subject headings
- Hirschsprung Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Individuals with Hirschsprung Disease | Individuals with Hirschsprung disease | |
| Unaffected Relatives | Unaffected relatives of individuals with Hirschsprung disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
Whole blood sample collection
Collect human peripheral blood mononuclear cells (PBMCs) and reprogram into iPSCs.
Measured: 52 weeks after sample collection
iPSC disease modeling
Use patient-derived iPSCs to develop models of human diseases and to determine the contribution of patient genetic factors to disease pathogenesis
Measured: 200 weeks after sample collection
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jul 2020
- Study start15 Apr 2022
- Primary completion3 Oct 2022
- Study completion3 Oct 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hirschsprung DiseaseStudies of the same condition, open and under way.
- More trials run by University of California, San FranciscoThe 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
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of California, San Francisco
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Steve Finkbeiner, MD, PhD, Principal investigator, University of California, San Francisco
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04476225
- Sponsor's protocol ID
- 19-27665
- Status last verified
- Oct 2022
- First submitted
- 14 Jul 2020
- Last updated
- 6 Oct 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Oct 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Induced Pluripotent Stem Cells for Disease Research
- ClinicalTrials.gov ID
- NCT04476225
- Acronym / sponsor ID
- 19-27665
- Conditions
- Hirschsprung Disease
- Keywords
- Hirschsprung Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1 participants (actual)
- Lead sponsor
- University of California, San FranciscoUniversity, hospital or other
- Study start
- 15 Apr 2022 (actual)
- Primary completion
- 3 Oct 2022 (actual)
- Study completion
- 3 Oct 2022 (actual)
- First posted
- 20 Jul 2020 (actual)
- 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 aim of this study is to determine the contribution of genetic factors to the pathogenesis of diseases, including diseases such as Parkinson's disease, Hirschsprung's disease, and autism. Patient-derived cellular models of diseases will be developed, which will require the collection of blood samples from patients and healthy individuals in order to generate induced pluripotent stem cells (iPSCs) for the development of iPSC-derived human cell cultures. These human cellular models will be phenotyped using a variety of methods, including cellular, molecular, and biochemical assays. Because these human cellular models will retain the genetic background from the patients and control subjects, this will allow us to determine the contribution of genetics to disease phenotypes. Such disease-specific pluripotent stem cell lines will be invaluable tools for many basic and translational research applications, including pathophysiological studies in a developmental context, and innovation and screening of small molecule drugs capable of reversing the disease phenotype and potentially leading to a cure for a broad range of diseases, where appropriate in vitro or in vivo disease models do not exist.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Individuals with Hirschsprung Disease | – | –Individuals with Hirschsprung disease |
| Unaffected Relatives | – | –Unaffected relatives of individuals with Hirschsprung disease |
Who may qualify
- Ages
- 13 to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with Hirschsprung disease and their unaffacted family members
Key inclusion criteria (4 listed)
- Individuals with Hirschsprung disease
- Any disease severity accepted
- Individuals with or without other health issues accepted
- Unaffected / healthy relatives of individuals with Hirschsprung disease
Key exclusion criteria (3 listed)
- Individuals who are unwilling or unable to provide blood sample
- Individuals who are unwilling or unable to provide informed consent
- Individuals who are outside the age range permitted for our study will be excluded. Our study will only perform blood draws from individuals ages 13 and above.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Whole blood sample collection
Time frame: 52 weeks after sample collection
Collect human peripheral blood mononuclear cells (PBMCs) and reprogram into iPSCs.
iPSC disease modeling
Time frame: 200 weeks after sample collection
Use patient-derived iPSCs to develop models of human diseases and to determine the contribution of patient genetic factors to disease pathogenesis
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Oct 2022.
- Individual participant dataSharing planned: No
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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.
Steve Finkbeiner, MD, PhD principal investigator
University of California, San Francisco
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hirschsprung Disease, run by University of California, San Francisco 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 4 inclusion and 3 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: finished, as of the sponsor's last update on 6 Oct 2022. 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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Whole blood sample collection (time frame: 52 weeks after sample collection). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 6 Oct 2022.