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Genetic Testing

usual care + exome seq for Movement Disorders (NCGENES2 Trial)

N/A

Waitlist Available

Led By Jonathan S Berg, MD, PhD

Research Sponsored by University of North Carolina, Chapel Hill

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 1 year prior to return of results

Awards & highlights

NCGENES2 Trial Summary

This trial will compare first-line exome sequencing to usual care, as well as participant pre-visit preparation to no pre-visit preparation, in order to determine the net impact of diagnostic results and secondary findings.

Who is the study for?

This trial is for infants and children up to 15 years old, or their parents, who are fluent in English or Spanish. It's aimed at those referred for evaluation of a possible single-gene disorder or an undiagnosed condition. Adults must be able to give informed consent.Check my eligibility

What is being tested?

The study compares first-line exome sequencing (a detailed DNA test) with usual medical care, and also looks at the effect of preparing participants before their visit versus no preparation. The goal is to see how these approaches affect patient well-being and medical outcomes.See study design

What are the potential side effects?

Since this trial involves genetic testing rather than medication, traditional side effects aren't expected. However, there may be emotional or psychological impacts from learning about genetic risks.

NCGENES2 Trial Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 1 year prior to return of results

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~1 year prior to return of results

This trial's timeline: 3 weeks for screening, Varies for treatment, and 1 year prior to return of results for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.

Primary outcome measures

Final Caregiver QoL score

Final Patient Pediatric Quality of Life (Peds QL) score

Initial Caregiver QoL score

+17 more

Secondary outcome measures

Child causes of death related to the primary condition

Final Amount of work missed because of child's condition or treatments score

Final Average Peds QL score for "missing school for doctors visit"

+12 more

NCGENES2 Trial Design

4Treatment groups

Experimental Treatment

Active Control

Group I: Pre-visit prep / usual care + exome seqExperimental Treatment2 Interventions

Participants randomized to pre-visit prep will receive a study packet with educational materials and a question prompt list. These participants will be instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to their clinic visit 1 appointment. Participants will receive usual care and will be offered research exome sequencing.

Group II: Pre-visit prep / usual careExperimental Treatment1 Intervention

Group III: No prep / usual care + exome seqExperimental Treatment1 Intervention

Participants in the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit. Participants will receive usual care and will be offered research exome sequencing.

Group IV: No prep / usual careActive Control1 Intervention

Participants in the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit. Participants will receive usual care.

Do I qualify?Apply below to find out

Find a Location

Who is running the clinical trial?

University of North Carolina, Chapel HillLead Sponsor

1,504 Previous Clinical Trials

4,186,856 Total Patients Enrolled

National Human Genome Research Institute (NHGRI)NIH

263 Previous Clinical Trials

283,326 Total Patients Enrolled

East Carolina UniversityOTHER

107 Previous Clinical Trials

38,003 Total Patients Enrolled

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

What principal goals has this study set out to achieve?

"The aim of this trial, evaluated two weeks after the results are returned, is to assess Final Caregiver QoL scores. Additionally, there will be evaluations on final average PedsQL scores for "missing school due to feeling unwell" and "missing school due to doctor's visits". All these assessments employ a 0-100 scale with higher numbers indicating better HRQOL levels."

Answered by AI

Do you have any availability for participants in this research project?

"According to clinicaltrials.gov, the recruitment period for this research project has ended. It began on September 28th 2018 and was amended most recently on December 15th 2021. Nevertheless, there are still 1,594 medical studies currently looking for participants."

Answered by AI