CompletedNot Applicable

Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome

United States11 participantsStarted 2023-04-20

Plain-language summary

The overall purpose of this project is to establish the capability of screening for Angelman syndrome (AS) and Prader-Willi syndrome (PWS) in public health newborn screening (NBS) programs, with an aim of developing and validating a screening test for AS and PWS.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Diagnosed with Angelman Syndrome, confirmed by molecular testing (deletion of maternal allele of chromosome 15q11-q13, paternal uniparental disomy, and imprinting center defects) * Diagnosed with Prader-Willi Syndrome, confirmed by molecular testing (deletion of paternal allele of chromosome 15q11-q13, maternal uniparental disomy, and imprinting center defects) * Angelman Syndrome or Prader Willi Syndrome: Current patient at UW Health in the Madison, Wisconsin metropolitan area * Healthy controls 18 years old or older and have not received a diagnosis of Angelman syndrome or Prader Willi syndrome Exclusion Criteria: * Angelman Syndrome/Prader Willi Syndrome: family requires a translator for medical visits * Healthy Controls: Participants are unable to consent and complete study procedures in English.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Sensitivity: Number of True Positive AS Results

Timeframe: 1 sample collected from participant either at home or in presence of a study team member at clinic, up to 5 minutes

Sensitivity: Number of True Positive PWS Results

Timeframe: 1 sample collected from participant either at home or in presence of a study team member at clinic, up to 5 minutes

Specificity: Number of Healthy Controls With True Negative Results

Timeframe: 1 sample collected from participant in presence of a study team member (controls), up to 5 minutes

Trial details

NCT IDNCT05783791

SponsorUniversity of Wisconsin, Madison

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2023-07-21

View on ClinicalTrials.gov More Angelman Syndrome trials

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Sensitivity: Number of True Positive AS Results

Timeframe: 1 sample collected from participant either at home or in presence of a study team member at clinic, up to 5 minutes

Sensitivity: Number of True Positive PWS Results

Timeframe: 1 sample collected from participant either at home or in presence of a study team member at clinic, up to 5 minutes

Specificity: Number of Healthy Controls With True Negative Results

Timeframe: 1 sample collected from participant in presence of a study team member (controls), up to 5 minutes