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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: Recruiting study of Neurofibromatosis 1 and Noonan Syndrome, sponsored by Children's Hospital Medical Center, Cincinnati.
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. According to ClinicalTrials.gov, the official US trial registry.
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.
Primary Outcome
Collect specimens derived from blood, buccal cells, sputum, urine, bone marrow, tumor tissue and residual specimens, including but not limited to pleural fluid, ascetic fluid, chyle, skin, lung, lymphatic or renal tissue and/or bronchoalveolar lavage fluid, tissue specimens, and/or cells that are left over from clinical procedures from enrolled patients for research purposes only.
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 |
What NCT04395495 shows while recruiting
NCT04395495 is an observational study that tracks outcomes without assigning an intervention. Its 1,000 participants enrollment target places it among the larger protocols in the corpus, roughly in line with the 994-participant average among 24 other Neurofibromatosis 1 trials with a reported enrollment target.
The record links to 10 conditions, with Neurofibromatosis 1 appearing as the primary indexed condition, and to 0 interventions.
NCT04395495 reports a single indexed study location in 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.
Learn More About Clinical Trials
Similar trials for Neurofibromatosis 1
Matched on the same primary condition, ranked to surface studies in the same phase first, then by recruiting status, no relevance scoring or editorial curation.
Where NCT04395495's enrollment target sits among peer trials
1,000 2nd of 24 higher than 22 of 24 other Neurofibromatosis 1 trials
participants (enrollment target), bucketed by value
Each bar is a band; taller bars hold more other Neurofibromatosis 1 trials. The dashed line + filled bar mark this entry. Hover or tap any bar for its full count and share, and where it sits relative to this entry.
Source ClinicalTrials.gov registry export · 2026-08-08
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