Eczema/Atopic DermatitisPFACTR02NCT04362852
Patient Forward Access to Clinical and Technological Research: Genetic Influences on Cancer and Atopic Dermatitis
An observational study of Eczema/Atopic Dermatitis and Cancer, run by Boston Children's Hospital at 1 site in United States.
Trial summary
This Patient Forward study intends to conduct research to investigate potential genetic factors causing cancer and eczema/atopic dermatitis. The study utilizes a patient-centered design and is led by a collaborative team including The Manton Center for Orphan Disease Research, Inspire, Citizen Genetics and Pfizer. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Eczema/Atopic Dermatitis, Cancer
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Feb 2020to 31 Dec 2021
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals with eczema/atopic dermatitis or a past cancer diagnosis and their family members
Who may be able to join
- Having a diagnosis of eczema or atopic dermatitis and/or being related to a person with such a diagnosis
- Having a past diagnosis of cancer and/or being related to a person with such a diagnosis
Who cannot join
- Not having such a diagnosis and/or not be related to such an individual
Trial locations and contacts
1 site in 1 country.
United States1 site
Boston Children's Hopsital
Boston, Massachusetts, 02115
About this study
Official title: The Manton Center for Orphan Disease Research Gene Discovery Core (GDC)
This Patient Forward study intends to conduct research to investigate potential genetic factors causing cancer and eczema/atopic dermatitis. The study utilizes a patient-centered design and is led by a collaborative team including The Manton Center for Orphan Disease Research, Inspire, Citizen Genetics and Pfizer. The Manton Center for Orphan Disease Research, a research program at Boston Children's Hospital that focuses on determining the genetic causes of rare and undiagnosed disorders, will work collaboratively with Inspire (inspire.com), a patient-focused research platform and social network with millions of users, to identify and recruit patients and family members for this genetic research study. Participants for this study will be asked to provide health information through surveys, questionnaires and/or interviews, and to provide a genetic sample through a blood draw or saliva sample. The study intends to combine this information to learn more about the genetic drivers in cancer and eczema/atopic dermatitis.
Read the detailed description
Inspire will survey its members who have eczema/atopic dermatitis or have had cancer to identify patients that match the health criteria for the study including 1) a diagnosis of one of the two diseases under investigation, and 2) evidence of a family history of the disease. Participants will be referred to the Manton Center by Inspire for outreach and consent. After consenting to participation, participants will be asked to participate in the study by providing 1) relevant medical information/records and family history and 2) a blood/saliva/DNA sample for genetic analysis.
The health and family history information allows the investigators to gain a better understanding of the specific disease symptoms seen in an individual or family. The blood/saliva sample is used to obtain DNA which can then be analyzed to identify if there may be a genetic basis of disease pathophysiology using various tools including exome genomic sequencing, genetic variant analysis, familial genotyping and cross-mapping with disease phenotype and severity.
This study will be ongoing for an indefinite period of time, and participation is continuous unless an individual requests to be removed from the study. Participants can request to withdraw at any time. Active participation primarily takes place at the time of enrollment and on a case-by-case basis thereafter for providing clinical updates and/or additional samples. Risks include those associated with routine blood draws/saliva sample collections and emotional distress associated with genetic and/or medical research. Risks are minimized as much as possible by an open consent process and privacy/confidentiality safeguards, including a certificate of confidentiality from the NIH and the use of de-identified, numerical codes to refer to participants with collaborators.
Although there may not be immediate, direct benefits to participants, the possible benefits of this study include: 1) the development of new diagnostic tests and more detailed prognostic information for participants and their families and their disease-linked patient communities and 2) a better understanding of the pathophysiology of these conditions, leading to the development of new potential treatments. Furthermore, this study offers to return genetic test results that are unrelated to cancer and eczema/atopic dermatitis, but are results that may impact health, like an inherited risk for cancer. The American College of Medical Genetics (ACMG) has recommended that findings identified in a subset of medically actionable genes associated with various inherited disorders be reported for those undergoing genomic sequencing. Pathogenic findings in this subset of genes will be returned to the participant.
- Conditions
- Eczema/Atopic Dermatitis, Cancer
- Keywords
- lung cancer, atopic dermatitis, eczema, genetic testing, genomics, genomic profiling, whole exome, social media, patient centered
- Medical subject headings
- Eczema, Dermatitis, Atopic, Neoplasms, Lung Neoplasms
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 |
|---|---|---|
| Cancer | No intervention | |
| Atopic Dermatitis/Eczema | No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of novel genetic factors causing cancer or eczema/atopic dermatitis
Analysis of genetic data from families impacted by lung cancer or eczema/atopic dermatitis. This may include functional analysis such as animal modeling and cell line assays, which will be performed to gain further insight into novel candidate genes. When a molecular diagnosis is identified for a family, this is reported back through a designated health care provider.
Measured: 1-10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Apr 2020
- Study start1 Feb 2020
- Primary completion31 Dec 2021
- Study completion31 Dec 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Eczema/Atopic DermatitisStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 100 participants (actual)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Pfizer
- Responsible party
- Principal investigator, Pankaj Agrawal, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04362852
- Sponsor's protocol ID
- PFACTR02
- Acronym
- PFACTR02
- Status last verified
- May 2022
- First submitted
- 23 Apr 2020
- Last updated
- 9 May 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Manton Center for Orphan Disease Research Gene Discovery Core (GDC)
- ClinicalTrials.gov ID
- NCT04362852
- Acronym / sponsor ID
- PFACTR02 / PFACTR02
- Conditions
- Eczema/Atopic Dermatitis, Cancer
- Keywords
- lung cancer, atopic dermatitis, eczema, genetic testing, genomics, genomic profiling, whole exome, social media
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 100 participants (actual)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Collaborators
- Pfizer
- Study start
- 1 Feb 2020 (actual)
- Primary completion
- 31 Dec 2021 (actual)
- Study completion
- 31 Dec 2021 (actual)
- First posted
- 27 Apr 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.
This Patient Forward study intends to conduct research to investigate potential genetic factors causing cancer and eczema/atopic dermatitis. The study utilizes a patient-centered design and is led by a collaborative team including The Manton Center for Orphan Disease Research, Inspire, Citizen Genetics and Pfizer. The Manton Center for Orphan Disease Research, a research program at Boston Children's Hospital that focuses on determining the genetic causes of rare and undiagnosed disorders, will work collaboratively with Inspire (inspire.com), a patient-focused research platform and social network with millions of users, to identify and recruit patients and family members for this genetic research study. Participants for this study will be asked to provide health information through surveys, questionnaires and/or interviews, and to provide a genetic sample through a blood draw or saliva sample. The study intends to combine this information to learn more about the genetic drivers in cancer and eczema/atopic dermatitis.
Detailed description
Inspire will survey its members who have eczema/atopic dermatitis or have had cancer to identify patients that match the health criteria for the study including 1) a diagnosis of one of the two diseases under investigation, and 2) evidence of a family history of the disease. Participants will be referred to the Manton Center by Inspire for outreach and consent. After consenting to participation, participants will be asked to participate in the study by providing 1) relevant medical information/records and family history and 2) a blood/saliva/DNA sample for genetic analysis.
The health and family history information allows the investigators to gain a better understanding of the specific disease symptoms seen in an individual or family. The blood/saliva sample is used to obtain DNA which can then be analyzed to identify if there may be a genetic basis of disease pathophysiology using various tools including exome genomic sequencing, genetic variant analysis, familial genotyping and cross-mapping with disease phenotype and severity.
This study will be ongoing for an indefinite period of time, and participation is continuous unless an individual requests to be removed from the study. Participants can request to withdraw at any time. Active participation primarily takes place at the time of enrollment and on a case-by-case basis thereafter for providing clinical updates and/or additional samples. Risks include those associated with routine blood draws/saliva sample collections and emotional distress associated with genetic and/or medical research. Risks are minimized as much as possible by an open consent process and privacy/confidentiality safeguards, including a certificate of confidentiality from the NIH and the use of de-identified, numerical codes to refer to participants with collaborators.
Although there may not be immediate, direct benefits to participants, the possible benefits of this study include: 1) the development of new diagnostic tests and more detailed prognostic information for participants and their families and their disease-linked patient communities and 2) a better understanding of the pathophysiology of these conditions, leading to the development of new potential treatments. Furthermore, this study offers to return genetic test results that are unrelated to cancer and eczema/atopic dermatitis, but are results that may impact health, like an inherited risk for cancer. The American College of Medical Genetics (ACMG) has recommended that findings identified in a subset of medically actionable genes associated with various inherited disorders be reported for those undergoing genomic sequencing. Pathogenic findings in this subset of genes will be returned to the participant.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Cancer | – | –No intervention |
| Atopic Dermatitis/Eczema | – | –No intervention |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with eczema/atopic dermatitis or a past cancer diagnosis and their family members
Key inclusion criteria (2 listed)
- Having a diagnosis of eczema or atopic dermatitis and/or being related to a person with such a diagnosis
- Having a past diagnosis of cancer and/or being related to a person with such a diagnosis
Key exclusion criteria (1 listed)
- Not having such a diagnosis and/or not be related to such an individual
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
Identification of novel genetic factors causing cancer or eczema/atopic dermatitis
Time frame: 1-10 years
Analysis of genetic data from families impacted by lung cancer or eczema/atopic dermatitis. This may include functional analysis such as animal modeling and cell line assays, which will be performed to gain further insight into novel candidate genes. When a molecular diagnosis is identified for a family, this is reported back through a designated health care provider.
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 9 May 2022.
- The Manton Center for Orphan Disease ResearchLink provided by the sponsor.
- Patient-focused research platform and social networkLink 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.
The record lists no contact. Use the official record to reach the sponsor.
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 Eczema/Atopic Dermatitis and Cancer, run by Boston Children's Hospital 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 2 inclusion and 1 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 9 May 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?
Identification of novel genetic factors causing cancer or eczema/atopic dermatitis (time frame: 1-10 years). 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 9 May 2022.