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NCT02650622 · ClinicalTrials.gov registry record
Genetic and Metabolic Disease in Children
A clinical trial of Metabolic Diseases and Genetic Diseases, sponsored by University of Texas Southwestern Medical Center.
- Recruiting
- Registry status
- 1,550
- Enrollment target
- 1
- Study location
NCT02650622: Recruiting study of Metabolic Diseases and Genetic Diseases, sponsored by University of Texas Southwestern Medical Center.
NCT02650622 is a study of Metabolic Diseases and Genetic Diseases that is actively recruiting participants, run by University of Texas Southwestern Medical Center. The registered enrollment target is 1,550 participants, above the 69-participant average among 12 other Metabolic Diseases trials with a reported enrollment target (2146% higher). The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT02650622, a study of Metabolic Diseases and Genetic Diseases, is actively recruiting participants, sponsored by University of Texas Southwestern Medical Center.
- RECRUITING
- Registry status
- 1,550 participants
- Enrollment target
- 1
- Study location
Study Summary
This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while establishing a specific focus on disorders where molecular characterization is most likely to lead to novel therapies. This study will merge detailed phenotypic characterization of patients presenting to the Pediatric Genetics and Metabolism Division in the Department of Pediatrics/Children's Medical Center at Dallas and collaborating clinics with Next-Generation sequencing techniques to identify disease-producing mutations. The primary objective of the study is to identify novel pathogenic mutations in children with rare Mendelian disorders. A secondary objective of the study is to establish normative ranges of a large number of metabolites from healthy newborns and older children.
Primary Outcome
The Levels of the metabolites that can be detected in the plasma from the enrolled children will be measured by mass-spectrometry technique.The DNA samples will be extracted from the blood samples of diseased children and then subjected to exome sequencing to identify gene mutations.
Conditions Studied
Interventions
- PROCEDURE Skin Biopsy
Study Locations (1)
Texas
- Children's Medical Center at Dallas - Dallas
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 1,550 participants |
| Start Date | 2015-06 |
| Est. Completion | 2030-05 |
What NCT02650622 shows while recruiting
NCT02650622 is an observational study that tracks outcomes without assigning an intervention. Its 1,550 participants enrollment target places it among the larger protocols in the corpus, above the 69-participant average among 12 other Metabolic Diseases trials with a reported enrollment target (2146% higher).
The record links to 2 conditions, with Metabolic Diseases appearing as the primary indexed condition, and to 1 intervention - of which Skin Biopsy is the first listed.
NCT02650622 reports a single indexed study location in Texas.
Frequently Asked Questions
What is clinical trial NCT02650622 about?
NCT02650622 is a clinical study titled "Genetic and Metabolic Disease in Children". This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while establishing a specific focus on disorders where molecular characterization is most likely to lead to novel therapies. This study will merge det...
What is the current status of trial NCT02650622?
This trial is currently recruiting. The enrollment target is 1,550 participants. The study started on 2015-06. Estimated completion is 2030-05.
What conditions does trial NCT02650622 study?
This clinical trial studies the following conditions: Metabolic Diseases, Genetic Diseases.
What interventions are being tested in trial NCT02650622?
The interventions under investigation include: Skin Biopsy (PROCEDURE).
Who is sponsoring clinical trial NCT02650622?
This trial is sponsored by University of Texas Southwestern Medical Center, which has 837 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT02650622 being conducted?
This trial has 1 study location across Texas. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
Learn More About Clinical Trials
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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 NCT02650622's enrollment target sits among peer trials
1,550 1st of 12 higher than 12 of 12 other Metabolic Diseases trials
participants (enrollment target), bucketed by value
Each bar is a band; taller bars hold more other Metabolic Diseases 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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