You are here

Ongoing Clinical Trials

Ongoing Clinical Trials

The Epilepsy Genetics Initiative

Aim: To provide trio whole genome sequencing for patients with epilepsy where the cause remains unknown after genetic workup

Inclusion (all must be met):

  • Child or adult with epilepsy diagnosed in infancy or early childhood
  • Previous CMA and TRIO WES* with negative or inconclusive results
  • Both biological parents and child must be available and willing to provide samples (blood for WGS and skin biopsy for RNA-seq) 

Exclusion:

  • Evidence of infection, trauma, or stroke as possible etiologies for epilepsy 

Application: Clinicians encouraged to discuss with family and either one can complete an online survey at: https://redcap.link/epilepsy

Study contacts: Tiffany Nguyen Dolphyn, MS, CGC and Dr. Hsiao-Tuan Chao, MD, PhD

*We will consider negative proband WES cases if re-analysis was recently completed, but we will prioritize negative trio WES cases


The Texome Project

Aim: To provide proband/trio exome sequencing for families with undiagnosed diseases who cannot otherwise afford or have access to this testing

Inclusion:

  • Child or adult with a rare condition of unknown cause but suspected genetic etiology AND at least 1 of the following:
  • Insurance denial for genetic testing
  • Public insurance such as Medicaid
  • Incomplete or total lack of insurance coverage

Exclusion:

  • Previous genetic diagnosis
  • Previous WES or WGS completed in the last 2 years

Participant Compensation: $100 if patient completes all 5 study appointments (virtual options available)

Application: Clinicians encouraged to discuss with family and either one can complete an online survey at: https://redcap.link/texome-project  

Study contacts: Tiffany Nguyen Dolphyn, MS, CGC and Dr. Michael Wangler, MD


The Brain Gene Registry

Aim: To provide patients with variants found in suspected ID/Autism genes an opportunity to advance knowledge on the relationship between genetic changes and human disease by enrolling in a national patient registry 

Inclusion (all must be met):

  • Child or adult with a confirmed (P/LP/VUS) variant in at least 1 priority gene* suspected to cause ID/Autism
  • Access to a web-based device with a video camera and microphone
  • Ability to complete a video appointment with virtual neuropsychological assessment

Exclusion:

  • Non-English speakers (for now, likely to change in the future)

Participant Compensation: $100 if patient completes all 2 study appointments (both virtual)

Application: Clinicians encouraged to discuss with family and contact study members below 

Study contacts: Tiffany Nguyen Dolphyn, MS, CGC and Dr. Michael Wangler, MD

*There are currently 55 priority genes curated from ID/Autism panels, and more may be added over time. It is not necessary to remember which genes are on the list. If a patient receives a positive or VUS result in a suspected ID/Autism gene and little information is known about the gene, they are likely a good match for this study.


U.S. National Library of Medicine

Click here to learn more about all of Texas Children's Clinical Trial Studies by topic.