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Gene Discovery Core, The Manton Center
NCT02743845 · View on ClinicalTrials.gov ↗
Study 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 Studied
Study Locations (1)
Massachusetts
- Boston Children's Hospital — Boston
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 10,000 participants |
| Start Date | 2010-02 |
| Est. Completion | 2030-12 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT02743845
The ClinicalTrials.gov registry entry for NCT02743845 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 10,000 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Boston Children's Hospital, which has 752 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 3 conditions, with Rare Disorders appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT02743845 reports 1 study location spanning 1 distinct geographic area — top geographies include Massachusetts. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT02743845 about?
NCT02743845 is a clinical study titled "Gene Discovery Core, The Manton Center". 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)...
What is the current status of trial NCT02743845?
This trial is currently recruiting. The enrollment target is 10,000 participants. The study started on 2010-02. Estimated completion is 2030-12.
What conditions does trial NCT02743845 study?
This clinical trial studies the following conditions: Rare Disorders, Undiagnosed Conditions, Orphan Diseases. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT02743845?
This trial is sponsored by Boston Children's Hospital, which has 752 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT02743845 being conducted?
This trial has 1 study location across Massachusetts. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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