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

NCT05783791 | Completed FDA Device

• 3 other identifiers: 2022-1467WSLH Newborn ScreeningCP001 approved 1/31/2023
• Study Type: observational
• Target: 11
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Angelman Syndrome; Prader-Willi Syndrome

Keywords

Newborn Screening; Assay; Public Health

Outcome Measures

Primary Outcomes (3)

• Sensitivity: Number of True Positive AS Results

  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

  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

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

Study Arms (3)

Participants with Angelman Syndrome (AS)

AS confirmed by molecular testing

Diagnostic Test: Newborn Screening Assay

Participants with Prader-Willi Syndrome (PWS)

PWS confirmed by molecular testing

Diagnostic Test: Newborn Screening Assay

Healthy Controls

Diagnostic Test: Newborn Screening Assay

Interventions

Newborn Screening Assay DIAGNOSTIC_TEST

The assay developed in this study is determined to be FDA regulated as an exempt diagnostic device. In this study, the testing involved with this assay fulfills the following criteria: * Is noninvasive * Does not require an invasive sampling procedure that presents significant risk (the finger prick is minimal risk) * Does not by design or intention introduce energy into a subject, and * Is not used as a diagnostic procedure without confirmation of the diagnosis by another, medically established diagnostic product or procedure, as participants will not receive results in this study.

Healthy Controls; Participants with Angelman Syndrome (AS); Participants with Prader-Willi Syndrome (PWS)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This study will target three groups: * participants with Angelman Syndrome * participants with Prader-Willi Syndrome * healthy controls

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Wisconsin, Madison: lead
• Ultragenyx Pharmaceutical Inc: collaborator

Study Sites (1)

University of Wisconsin School of Medicine and Public Health

Madison, Wisconsin, 53705, United States

Location

MeSH Terms

Conditions

Angelman Syndrome; Prader-Willi Syndrome

Condition Hierarchy (Ancestors)

Movement Disorders; Central Nervous System Diseases; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Obesity; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases

Study Officials

• Mei W Baker, M.D., FACMG

  University of Wisconsin, Madison

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 13, 2023
• First Posted: March 24, 2023
• Study Start: April 20, 2023
• Primary Completion: July 21, 2023
• Study Completion: July 21, 2023
• Last Updated: September 6, 2023

Record last verified: 2023-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)