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NCT05528744 · ClinicalTrials.gov registry record
Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
A clinical trial of Genetic Disease and Chopra-Amiel-Gordon Syndrome, sponsored by Boston Children's Hospital.
- Recruiting
- Registry status
- 125
- Enrollment target
- 1
- Study location
NCT05528744: Recruiting study of Genetic Disease and Chopra-Amiel-Gordon Syndrome, sponsored by Boston Children's Hospital.
NCT05528744 is a study of Genetic Disease and Chopra-Amiel-Gordon Syndrome that is actively recruiting participants, run by Boston Children's Hospital. The registered enrollment target is 125 participants, below the 2,557-participant average among 30 other Genetic Disease trials with a reported enrollment target (95% lower). The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT05528744, a study of Genetic Disease and Chopra-Amiel-Gordon Syndrome, is actively recruiting participants, sponsored by Boston Children's Hospital.
- RECRUITING
- Registry status
- 125 participants
- Enrollment target
- 1
- Study location
Study Summary
The purpose of this study is to establish the longitudinal natural history of individuals with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS) to learn more about the range of symptoms, changes in the structure of the brain seen on imaging, and learning difficulties that individuals with this disorder may experience. The investigators will obtain medical history, family history, MRI records, patient photographs, genetic test results, neurobehavioral and quality of life questionnaires from individuals with confirmed or suspected CAGS at annual research visits. Participants may also complete standardized research neurobehavioral assessments, research EEGs, and sample collections at each visit. This data will be maintained on a secure research database. Samples collected will be used for functional testing and the generation of iPSC cell lines, for neuronal reprogramming and phenotyping.
Primary Outcome
The primary endpoint of this cross-sectional natural history study will be the creation and implementation of a research registry of molecular and phenotypic information for CAGS.
Conditions Studied
Interventions
- OTHER Observational Study
- OTHER Sample collection only
Study Locations (1)
Massachusetts
- Boston Children's Hospital - Boston
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 125 participants |
| Start Date | 2022-08-27 |
| Est. Completion | 2030-12 |
What NCT05528744 shows while recruiting
NCT05528744 is an observational study that tracks outcomes without assigning an intervention. The registered 125 participants enrollment target is mid-sized for trials with a published cap, below the 2,557-participant average among 30 other Genetic Disease trials with a reported enrollment target (95% lower).
The record links to 4 conditions, with Genetic Disease appearing as the primary indexed condition, and to 2 interventions - of which Observational Study is the first listed.
NCT05528744 reports a single indexed study location in Massachusetts.
Frequently Asked Questions
What is clinical trial NCT05528744 about?
NCT05528744 is a clinical study titled "Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome". The purpose of this study is to establish the longitudinal natural history of individuals with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS) to learn more about the range of symptoms, changes in the structure of the brain seen on imaging, and learning difficulties that individuals with ...
What is the current status of trial NCT05528744?
This trial is currently recruiting. The enrollment target is 125 participants. The study started on 2022-08-27. Estimated completion is 2030-12.
What conditions does trial NCT05528744 study?
This clinical trial studies the following conditions: Genetic Disease, Chopra-Amiel-Gordon Syndrome, CAGS, ANKRD17.
What interventions are being tested in trial NCT05528744?
The interventions under investigation include: Observational Study (OTHER), Sample collection only (OTHER).
Who is sponsoring clinical trial NCT05528744?
This trial is sponsored by Boston Children's Hospital, which has 462 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT05528744 being conducted?
This trial has 1 study location across Massachusetts. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
Learn More About Clinical Trials
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Where NCT05528744's enrollment target sits among peer trials
125 19th of 30 higher than 12 of 30 other Genetic Disease trials
participants (enrollment target), bucketed by value
Each bar is a band; taller bars hold more other Genetic Disease 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.
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