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

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.

Study Overview

• Status: Completed
• Conditions: Cancer; 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 Type: Observational
• Enrollment (Actual): 100

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Boston Children's Hopsital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Individuals with eczema/atopic dermatitis or a past cancer diagnosis and their family members

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Family-Based
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Cancer; No intervention
Atopic Dermatitis/Eczema; No intervention

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	1-10 years

Collaborators and Investigators

• Sponsor: Boston Children's Hospital
• Collaborators: Pfizer

Publications and helpful links

Helpful Links

• Patient-focused research platform and social network

Study record dates

Study Major Dates

• Study Start (Actual): February 1, 2020
• Primary Completion (Actual): December 31, 2021
• Study Completion (Actual): December 31, 2021

Study Registration Dates

• First Submitted: April 23, 2020
• First Submitted That Met QC Criteria: April 23, 2020
• First Posted (Actual): April 27, 2020

Study Record Updates

• Last Update Posted (Actual): May 9, 2022
• Last Update Submitted That Met QC Criteria: May 6, 2022
• Last Verified: May 1, 2022

More Information

Terms related to this study

• Keywords: lung cancer; genetic testing; atopic dermatitis; eczema; genomics; social media; genomic profiling; whole exome; patient centered
• Additional Relevant MeSH Terms: Skin Diseases; Immune System Diseases; Hypersensitivity, Immediate; Genetic Diseases, Inborn; Skin Diseases, Genetic; Hypersensitivity; Skin Diseases, Eczematous; Dermatitis; Eczema; Dermatitis, Atopic
• Other Study ID Numbers: PFACTR02

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No