Epilepsy Clinical Trial
Official title:
Genomic Sequencing to Aid Diagnosis in Pediatric and Prenatal Practice: Examining Clinical Utility, Ethical Implications, Payer Coverage, and Data Integration in a Diverse Population.
Verified date | June 2023 |
Source | University of California, San Francisco |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Interventional |
The investigator aims to examine the clinical utility of WES, including assessment of a variety of clinical outcomes in undiagnosed pediatric cases.
Status | Completed |
Enrollment | 529 |
Est. completion date | May 13, 2022 |
Est. primary completion date | May 13, 2022 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A to 25 Years |
Eligibility | Inclusion Criteria: 1. Presenting clinical features suggestive of a genetic etiology, including intellectual disability, seizures, multiple congenital anomalies, metabolic conditions, and neurodegenerative conditions or idiopathic cerebral palsy. 2. A minimum of one biological parent is available and willing to provide a specimen for WES, with a preference for two available parents. At least one parent consenting to WES of the child. 4. Pediatric patients must have had at least one prior genetics appointment or evaluation 5. Pediatric patients may have had a single nucleotide polymorphism (SNP) array or oligonucleotide array that did not provide a diagnosis. Even though this study is for pediatric patients, maximum age limit was increased to 25, if patients fulfilling the above criteria were being followed by Pediatrics Department since they were younger than 18. Exclusion Criteria: 1. Prior WES performed for a clinical or research indication 2. Lack of phenotypic indication of a likely underlying genetic etiology 3. Both biological parents are unavailable. |
Country | Name | City | State |
---|---|---|---|
United States | UCSF Fresno | Fresno | California |
United States | UCSF Benioff Children's Hospital Oakland | Oakland | California |
United States | Benioff Children's Hospital Mission Bay | San Francisco | California |
United States | Zuckerberg San Francisco General Hospital | San Francisco | California |
Lead Sponsor | Collaborator |
---|---|
University of California, San Francisco | National Human Genome Research Institute (NHGRI) |
United States,
Slavotinek A. Clinical care models in the era of next-generation sequencing. Mol Genet Genomic Med. 2016 May 12;4(3):239-42. doi: 10.1002/mgg3.225. eCollection 2016 May. No abstract available. — View Citation
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Number of Pediatric Patients With a Positive Exome Sequencing Result | Number of pediatric patients with a diagnostic result among all patients where exome was performed.
A positive exome sequencing result means the identification of a pathogenic or likely pathogenic gene variant to explain the child's condition. The definition of pediatric was expanded to include participants over the age of 18 if they were being followed by UCSF pediatrics department if they were patients at the pediatrics department before they were 18 years old. |
At the completion of data collection (follow-up visit at 6-12 months after return of results) |
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