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Patient Forward Access to Clinical and Technological Research: Genetic Influences on Cancer and Atopic Dermatitis (PFACTR02)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT04362852
Recruitment Status : Completed
First Posted : April 27, 2020
Last Update Posted : May 9, 2022
Information provided by (Responsible Party):
Pankaj Agrawal, Boston Children's Hospital

Brief 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 (, 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.

Condition or disease
Eczema/Atopic Dermatitis Cancer

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.

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Study Type : Observational
Actual Enrollment : 100 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: The Manton Center for Orphan Disease Research Gene Discovery Core (GDC)
Actual Study Start Date : February 1, 2020
Actual Primary Completion Date : December 31, 2021
Actual Study Completion Date : December 31, 2021

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Eczema

No intervention
Atopic Dermatitis/Eczema
No intervention

Primary Outcome Measures :
  1. 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.

Biospecimen Retention:   Samples With DNA
Blood or saliva

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Individuals with eczema/atopic dermatitis or a past cancer diagnosis and their family members

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • Not having such a diagnosis and/or not be related to such an individual

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04362852

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United States, Massachusetts
Boston Children's Hopsital
Boston, Massachusetts, United States, 02115
Sponsors and Collaborators
Boston Children's Hospital
Additional Information:
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Responsible Party: Pankaj Agrawal, Associate Professor of Pediatrics, Boston Children's Hospital Identifier: NCT04362852    
Other Study ID Numbers: PFACTR02
First Posted: April 27, 2020    Key Record Dates
Last Update Posted: May 9, 2022
Last Verified: May 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Pankaj Agrawal, Boston Children's Hospital:
lung cancer
atopic dermatitis
genetic testing
genomic profiling
whole exome
social media
patient centered
Additional relevant MeSH terms:
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Dermatitis, Atopic
Skin Diseases
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases, Eczematous
Hypersensitivity, Immediate
Immune System Diseases