Angelman SyndromeNCT05783791
Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome
An observational study of Angelman Syndrome and Prader-Willi Syndrome, run by University of Wisconsin, Madison at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Angelman Syndrome, Prader-Willi Syndrome
- What is being tested?
- Newborn Screening Assay
- How many people
- 11 participants
- Where
- 1 siteUnited States
- Study dates
- 20 Apr 2023to 21 Jul 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: This study will target three groups: * participants with Angelman Syndrome * participants with Prader-Willi Syndrome * healthy controls
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Wisconsin School of Medicine and Public Health
Madison, Wisconsin, 53705
About this study
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.
Read the detailed description
This project will have an assay development phase and an assay validation phase.
In the assay development phase, the investigators will develop a method of assessing SNRPN promoter (located in chromosome 15 q11-q13) methylation status using methylation-specific PCR coupled with a melting curve analysis with de-identified leftover DNA from routine newborn screening dried blood samples for severe combined immunodeficiency and spinal muscular atrophy.
In the assay validation phase, the investigators plan to assess the assay sensitivity and specificity using a set of DNA samples extracted from dried blood spots in each following group:
- Healthy individuals
- AS patients with genetic testing confirmation that the maternal copy of chromosome 15 q11-q13 is deleted, or that there are two paternal copies of chromosome 15 q11-q13 or imprinting center defect.
- PWS patients with genetic testing confirmation that the paternal copy of chromosome 15 q11-q13 is deleted, or that there are two maternal copies of chromosome 15 q11-q13 or imprinting center defect.
For participants with AS or PWS, blood samples will be obtained via a self-administered finger prick performed in the participant's home. The participant will mail the sample to the researchers using a provided envelope. If the team is not able to reach the participant after two phone call attempts, the study team may approach them at their next clinic visit to assess interest in study participation. If participants opt to join the study at this clinic visit, the blood sample may be obtained in clinic.
For healthy controls, blood samples will be obtained via a self-administered finger prick, and participants will verbally respond to a brief demographic questionnaire.
- Conditions
- Angelman Syndrome, Prader-Willi Syndrome
- Being tested
- Newborn Screening Assay
- Keywords
- Newborn Screening, Assay, Public Health
- Medical subject headings
- Angelman Syndrome, Prader-Willi Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Newborn Screening AssayDiagnostic 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.
| Study group | Role | What they receive |
|---|---|---|
| Participants with Angelman Syndrome (AS) | AS confirmed by molecular testing Receives: Diagnostic Test: Newborn Screening Assay | |
| Participants with Prader-Willi Syndrome (PWS) | PWS confirmed by molecular testing Receives: Diagnostic Test: Newborn Screening Assay | |
| Healthy Controls | Not described Receives: Diagnostic Test: Newborn Screening Assay |
What is being measured
The primary outcome is the main question the study is designed to answer.
Sensitivity: Number of True Positive AS Results
Measured: 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
Measured: 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
Measured: 1 sample collected from participant in presence of a study team member (controls), up to 5 minutes
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Mar 2023
- Study start20 Apr 2023
- Primary completion21 Jul 2023
- Study completion21 Jul 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Angelman SyndromeStudies of the same condition, open and under way.
- More trials run by University of Wisconsin, MadisonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 11 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Wisconsin, Madison
- Sponsor type
- University, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Responsible party
- Sponsor
- Investigators
- Mei W Baker, M.D., FACMG, Principal investigator, University of Wisconsin, Madison
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05783791
- Sponsor's protocol ID
- 2022-1467
- Other IDs
- WSLH Newborn Screening, CP001 approved 1/31/2023
- Status last verified
- Aug 2023
- First submitted
- 13 Mar 2023
- Last updated
- 6 Sep 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- Yes
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome
- ClinicalTrials.gov ID
- NCT05783791
- Acronym / sponsor ID
- 2022-1467
- Conditions
- Angelman Syndrome, Prader-Willi Syndrome
- Keywords
- Newborn Screening, Assay, Public Health
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 11 participants (actual)
- Lead sponsor
- University of Wisconsin, MadisonUniversity, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Study start
- 20 Apr 2023 (actual)
- Primary completion
- 21 Jul 2023 (actual)
- Study completion
- 21 Jul 2023 (actual)
- First posted
- 24 Mar 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
This project will have an assay development phase and an assay validation phase.
In the assay development phase, the investigators will develop a method of assessing SNRPN promoter (located in chromosome 15 q11-q13) methylation status using methylation-specific PCR coupled with a melting curve analysis with de-identified leftover DNA from routine newborn screening dried blood samples for severe combined immunodeficiency and spinal muscular atrophy.
In the assay validation phase, the investigators plan to assess the assay sensitivity and specificity using a set of DNA samples extracted from dried blood spots in each following group:
- Healthy individuals
- AS patients with genetic testing confirmation that the maternal copy of chromosome 15 q11-q13 is deleted, or that there are two paternal copies of chromosome 15 q11-q13 or imprinting center defect.
- PWS patients with genetic testing confirmation that the paternal copy of chromosome 15 q11-q13 is deleted, or that there are two maternal copies of chromosome 15 q11-q13 or imprinting center defect.
For participants with AS or PWS, blood samples will be obtained via a self-administered finger prick performed in the participant's home. The participant will mail the sample to the researchers using a provided envelope. If the team is not able to reach the participant after two phone call attempts, the study team may approach them at their next clinic visit to assess interest in study participation. If participants opt to join the study at this clinic visit, the blood sample may be obtained in clinic.
For healthy controls, blood samples will be obtained via a self-administered finger prick, and participants will verbally respond to a brief demographic questionnaire.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Participants with Angelman Syndrome (AS) | – | Diagnostic Test: Newborn Screening AssayAS confirmed by molecular testing |
| Participants with Prader-Willi Syndrome (PWS) | – | Diagnostic Test: Newborn Screening AssayPWS confirmed by molecular testing |
| Healthy Controls | – | Diagnostic Test: Newborn Screening Assay |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This study will target three groups: * participants with Angelman Syndrome * participants with Prader-Willi Syndrome * healthy controls
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Newborn Screening AssayThe 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. | Diagnostic test | Healthy Controls, Participants with Angelman Syndrome (AS), Participants with Prader-Willi Syndrome (PWS) |
Primary outcome
Sensitivity: Number of True Positive AS Results
Time frame: 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
Time frame: 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
Time frame: 1 sample collected from participant in presence of a study team member (controls), up to 5 minutes
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Sep 2023.
- Individual participant dataSharing planned: No
Related trials for Angelman Syndrome
RecruitingPhase 3
BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome.
Angelman Syndrome
RecruitingPhase 3
CHAMPION: A Study to Evaluate the Efficacy and Safety of Obudanersen (ION582) in Children and Adults With Angelman Syndrome (AS)
Angelman Syndrome
RecruitingObservational study
A Natural History Study of Angelman Syndrome
Angelman Syndrome, Neurodevelopmental Conditions
Active, not recruitingPhase 3
REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome
Angelman Syndrome
Active, not recruiting
Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)
Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Mei W Baker, M.D., FACMG principal investigator
University of Wisconsin, Madison
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Angelman Syndrome and Prader-Willi Syndrome, run by University of Wisconsin, Madison at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Sep 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Sensitivity: Number of True Positive AS Results (time frame: 1 sample collected from participant either at home or in presence of a study team member at clinic, up to 5 minutes). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Sep 2023.