Gene Discovery Core, The Manton Center

NCT02743845 | Recruiting

• 1 other identifier: 10-02-0053
• Study Type: observational
• Target: 10,000
• Locations: 1 country
• Sites: 1

Brief Summary

The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic conditions. The primary goal of the research is to better understand the genes and proteins (gene products) involved in rare diseases. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with rare disease in the future. Individuals with any rare/undiagnosed condition are eligible to enroll. Enrollment includes:

• Providing DNA and tissue samples (when available)
• Access to participants' medical records
• Access to genomic data (when available) Samples are used for genetic analysis (primarily exome and genome sequencing or reanalysis) to identify the genetic cause for the individual's illness. Individual research results are returned to families through their health care provider after confirmation in a clinical lab. If a cause is identified, that can be reported back to the family through their health care provider and the study's genetic counselor. When possible, the investigators also collect samples from parents and full-siblings as well as any other affected family members.

Conditions

Undiagnosed Conditions; Rare Disorders; Orphan Diseases

Keywords

Rare; Undiagnosed; Orphan Disease; Genomic Sequencing

Outcome Measures

Primary Outcomes (2)

• Identification of rare or novel disease-causing genetic variants for a participant's disorder

  Functional analysis, including animal modeling and cell line assays, will be performed for 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

• Characterization of clinical features of novel and rare disorders using Human Phenotype Ontology (HPO) terms

  As known and new disease genes are identified the resulting genotypes are correlated with subject phenotypes.

  1-10 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with a rare or unknown but presumed genetic diagnosis and their family members.

You may qualify if:

• Having a known or uncertain rare diagnosis which may have a poorly understood genetic component and/or be a relative to a person with such a diagnosis

You may not qualify if:

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

Sponsors & Collaborators

• Boston Children's Hospital: lead

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

DNA RNA Tissue Samples Cell lines

MeSH Terms

Conditions

Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Katie Anderson, MS, CGC

CONTACT

617-919-4287; gdc@childrens.harvard.edu

Casie Genetti, MS, CGC

CONTACT

617-919-2169; gdc@childrens.harvard.edu

Study Design

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

Study Record Dates

• First Submitted: January 4, 2016
• First Posted: April 19, 2016
• Study Start: February 1, 2010
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: March 25, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share

Locations

US (1)