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

NCT04362852 | Completed

• 1 other identifier: PFACTR02
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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 (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.

Conditions

Eczema/Atopic Dermatitis; Cancer

Keywords

lung cancer; atopic dermatitis; eczema; genetic testing; genomics; genomic profiling; whole exome; social media; patient centered

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (2)

Cancer

No intervention

Atopic Dermatitis/Eczema

No intervention

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Boston Children's Hospital: lead
• Pfizer: collaborator

Study Sites (1)

Boston Children's Hopsital

Boston, Massachusetts, 02115, United States

Location

Related Links

• The Manton Center for Orphan Disease Research
• Patient-focused research platform and social network

Biospecimen

Retention: SAMPLES WITH DNA

Blood or saliva

MeSH Terms

Conditions

Eczema; Dermatitis, Atopic; Neoplasms; Lung Neoplasms

Condition Hierarchy (Ancestors)

Dermatitis; Skin Diseases; Skin and Connective Tissue Diseases; Skin Diseases, Eczematous; Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hypersensitivity, Immediate; Hypersensitivity; Immune System Diseases; Respiratory Tract Neoplasms; Thoracic Neoplasms; Neoplasms by Site; Lung Diseases; Respiratory Tract Diseases

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor of Pediatrics

Study Record Dates

• First Submitted: April 23, 2020
• First Posted: April 27, 2020
• Study Start: February 1, 2020
• Primary Completion: December 31, 2021
• Study Completion: December 31, 2021
• Last Updated: May 9, 2022

Record last verified: 2022-05

Locations

US (1)