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NCT04395495 · ClinicalTrials.gov registry record
RASopathy Biorepository
A clinical trial of Neurofibromatosis 1 and Noonan Syndrome, sponsored by Children's Hospital Medical Center, Cincinnati.
- Recruiting
- Registry status
- 1,000
- Enrollment target
- 1
- Study location
NCT04395495 is a study of Neurofibromatosis 1 and Noonan Syndrome that is actively recruiting participants, run by Children's Hospital Medical Center, Cincinnati. The registered enrollment target is 1,000 participants, roughly in line with the 994-participant average among 24 other Neurofibromatosis 1 trials with a reported enrollment target. The trial reports 1 study location across 1 state.
The verdict
NCT04395495, a study of Neurofibromatosis 1 and Noonan Syndrome, is actively recruiting participants, sponsored by Children's Hospital Medical Center, Cincinnati.
- RECRUITING
- Registry status
- 1,000 participants
- Enrollment target
- 1
- Study location
Study Summary
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently. This pathway is essential in the regulation of the cell cycle and the determination of cell function. Thus, appropriate function of this pathway is critical to normal development. Each syndrome in this group of disorders has unique phenotypic features, but there are many overlapping features including facial features, heart defects, cutaneous abnormalities, cognitive delays, and a predisposition to malignancies. This research study proposes to collect and store human bio-specimens from patients with suspected or diagnosed RASopathies. Once obtained, blood and/or tissue samples will be processed for: metabolic function studies, biomarkers, genetic studies, and/or the establishment of immortalized cell lines. In addition, data from the medical record (including neuropsychological evaluations) and surveys will be stored to create a longitudinal database for research conducted at CCHMC or at other research institutions.
Conditions Studied
Study Locations (1)
Ohio
- Cincinnati Children's Hospital Medical Center - Cincinnati
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 1,000 participants |
| Start Date | 2017-06-27 |
| Est. Completion | 2065-12 |
Interested in This Trial?
Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT04395495
The ClinicalTrials.gov registry entry for NCT04395495 describes a study currently listed as recruiting, categorized as an unspecified phase. The registered enrollment target is 1,000 participants, a figure that helps gauge the scale of data the investigators plan to collect, roughly in line with the 994-participant average among 24 other Neurofibromatosis 1 trials with a reported enrollment target. The listed sponsor is Children's Hospital Medical Center, Cincinnati, which has 571 total studies on file at ClinicalTrials.gov.
The record links to 10 conditions, with Neurofibromatosis 1 appearing as the primary indexed condition, and to 0 interventions.
NCT04395495 reports 1 study location spanning 1 distinct geographic area - top geographies include Ohio.
Frequently Asked Questions
What is clinical trial NCT04395495 about?
NCT04395495 is a clinical study titled "RASopathy Biorepository". The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently. This pathway is essential in the regulation of the cell cycle and the determination of c...
What is the current status of trial NCT04395495?
This trial is currently recruiting. The enrollment target is 1,000 participants. The study started on 2017-06-27. Estimated completion is 2065-12.
What conditions does trial NCT04395495 study?
This clinical trial studies the following conditions: Neurofibromatosis 1, Noonan Syndrome, RAS Mutation, Legius Syndrome, Cardiofaciocutaneous Syndrome.
Who is sponsoring clinical trial NCT04395495?
This trial is sponsored by Children's Hospital Medical Center, Cincinnati, which has 571 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT04395495 being conducted?
This trial has 1 study location across Ohio. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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Related
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