Clinical Trial Details
— Status: Completed
Administrative data
| NCT number |
NCT04362852 |
| Other study ID # |
PFACTR02 |
| Secondary ID |
|
| Status |
Completed |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
February 1, 2020 |
| Est. completion date |
December 31, 2021 |
Study information
| Verified date |
May 2022 |
| Source |
Boston Children's Hospital |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical 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. 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.
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.
