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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 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.
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.
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 |
Interested in This Trial?
Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT05528744
The ClinicalTrials.gov registry entry for NCT05528744 describes a study currently listed as recruiting, categorized as an unspecified phase. The registered enrollment target is 125 participants, a figure that helps gauge the scale of data the investigators plan to collect, below the 2,557-participant average among 30 other Genetic Disease trials with a reported enrollment target (95% lower). The listed sponsor is Boston Children's Hospital, which has 462 total studies on file at ClinicalTrials.gov.
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 1 study location spanning 1 distinct geographic area - top geographies include 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.
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