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

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ClinicalTrials.gov Identifier: NCT04362852
Recruitment Status : Recruiting
First Posted : April 27, 2020
Last Update Posted : April 29, 2020
Sponsor:
Collaborator:
Pfizer
Information provided by (Responsible Party):
Pankaj Agrawal, Boston Children's Hospital

Tracking Information
First Submitted Date April 23, 2020
First Posted Date April 27, 2020
Last Update Posted Date April 29, 2020
Actual Study Start Date February 1, 2020
Estimated Primary Completion Date February 1, 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: April 23, 2020)
Identification of novel genetic factors causing lung 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.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Patient Forward Access to Clinical and Technological Research: Genetic Influences on Lung Cancer and Atopic Dermatitis
Official Title The Manton Center for Orphan Disease Research Gene Discovery Core (GDC)
Brief Summary This Patient Forward study intends to conduct research to investigate potential genetic factors causing lung 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 lung cancer and eczema/atopic dermatitis.
Detailed Description

Inspire will survey its members who have eczema/atopic dermatitis or have had lung 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 lung 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
Study Design Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood or saliva
Sampling Method Non-Probability Sample
Study Population Individuals with eczema/atopic dermatitis or a past lung cancer diagnosis and their family members
Condition
  • Eczema/Atopic Dermatitis
  • Lung Cancer
Intervention Not Provided
Study Groups/Cohorts
  • Lung Cancer
    No intervention
  • Atopic Dermatitis/Eczema
    No intervention
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: April 23, 2020)
100
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 31, 2050
Estimated Primary Completion Date February 1, 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

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 lung 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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contacts
Contact: Jill Madden, PhD, MSc, CGC 6179194287 gdc@childrens.harvard.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT04362852
Other Study ID Numbers PFACTR02
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party Pankaj Agrawal, Boston Children's Hospital
Study Sponsor Boston Children's Hospital
Collaborators Pfizer
Investigators Not Provided
PRS Account Boston Children's Hospital
Verification Date February 2020