Mental DisorderNCT04155944
Diagnosis of Prader-Willi Syndrome and Angelman Syndrome
An observational study of Mental Disorder and Fetus Disorder, run by National Cheng-Kung University Hospital at 1 site in Taiwan.
Trial summary
In a retrospective study, data were assessed from cases regarding PWS/AS that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2014. Read more about this study
- Who is it for?
- Ages Up to 45 years
- Conditions the study is for
- Mental Disorder, Fetus Disorder
- How many people
- 60 participants
- Where
- 1 siteTaiwan
- Study dates
- Aug 2013to Dec 2014
- 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 Up to 45 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: During January 1, 2001, and December 31, 2014, cases were referred for molecular diagnosis such as individual with clinical features related to Prader-Willi syndrome or Angelman syndrome ; fetus with deletion or duplication of chromosome 15q11.2-q13 visible by the microscope; fetus whose mother or father has chromosomal abnormality involving 15q11.2-q13 and fetus with mosaic trisomy 15
Who may be able to join
- Individual with clinical features related to Prader-Willi syndrome or Angelman syndrome;
- Fetus with suspicious deletion or duplication of chromosome 15q11.2-q13 visible by the microscope;
- Fetus whose mother or father has chromosomal abnormality involving 15q11.2-q13
- Fetus with mosaic trisomy 15
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Dr. Pao-Lin Kuo (Department of Obstetrics and Gynecology)
In a retrospective study, data were assessed from cases regarding PWS/AS that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2014.
Read the detailed description
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct syndromes of developmental impairment that result from loss of the expression of imprinted genes on the q11-q13 region of chromosome 15 (15q11-q13). Approximately 70%--75% of individuals affected with PWS and AS have an interstitial deletion of 15q11-q13. Regarding the remaining individuals with PWS, maternal uniparental disomy is the cause in 20% of cases, imprinting errors in 3% of cases, and chromosomal translocation in approximately 1% of cases. Regarding the remaining cases of AS, paternal uniparental disomy accounts for 2% of cases and mutations in the UBE3A gene for 20% of cases.The PWS/AS critical region was examined by fluorescence in situ hybridization (FISH), methylation-specific PCR (M-PCR), and methylation-specific multiplex-ligation dependent probe amplification(MS-MLPA). In a retrospective study at the National Chen-Kung University Hospital,Tainan, Taiwan, data were reviewed from cases that were referred for molecular diagnosis between January 1, 2001, and December 31, 2014.
- Conditions
- Mental Disorder, Fetus Disorder
- Keywords
- M-PCR, FISH, MLPA, deletion, uniparental disomy, imprinting mutation
- Medical subject headings
- Mental Disorders, Fetal Diseases, Uniparental Disomy
What is being measured
The primary outcome is the main question the study is designed to answer.
M-PCR(methylation-specific PCR)
Abnormal pattern of M-PCR can identify PWS or AS
Measured: up to 4 weeks after diagnosis
FISH(fluorescent in-situ hybridization)
A "FISH" test will identify PWS/AS due to a deletion, but it will not identify those by UPD or an imprinting error.
Measured: up to 4 weeks after diagnosis
STR(short tandem repeat) for UPD (uniparental disomy)
A '"STR" test can identify PWS/AS duo to paternal or maternal UPD.
Measured: up to 4 weeks after diagnosis
MS-MLPA (methylation-specific multiplex-ligation-dependent probe amplification)
Use of the quantitative MS-MLPA method provides detailed information about deletions, rare duplications, and possibly UPD
Measured: up to 4 weeks after diagnosis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Nov 2019
- Study startAug 2013
- Primary completionDec 2014
- Study completionDec 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mental DisorderStudies of the same condition, open and under way.
- More trials run by National Cheng-Kung University HospitalThe 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
- Retrospective
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Cheng-Kung University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Pao-Lin Kuo, MD, Study director, Department of Obstetrics and Gynecology, National Chen-Kung University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04155944
- Sponsor's protocol ID
- B-ER-102-155-t
- Status last verified
- Aug 2018
- First submitted
- 28 Oct 2019
- Last updated
- 7 Apr 2023
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Apr 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Dr. Pao-Lin Kuo (Department of Obstetrics and Gynecology)
- ClinicalTrials.gov ID
- NCT04155944
- Acronym / sponsor ID
- B-ER-102-155-t
- Conditions
- Mental Disorder, Fetus Disorder
- Keywords
- M-PCR, FISH, MLPA, deletion, uniparental disomy, imprinting mutation
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- National Cheng-Kung University HospitalUniversity, hospital or other
- Study start
- Aug 2013 (actual)
- Primary completion
- Dec 2014 (actual)
- Study completion
- Dec 2014 (actual)
- First posted
- 7 Nov 2019 (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.
In a retrospective study, data were assessed from cases regarding PWS/AS that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2014.
Detailed description
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct syndromes of developmental impairment that result from loss of the expression of imprinted genes on the q11-q13 region of chromosome 15 (15q11-q13). Approximately 70%--75% of individuals affected with PWS and AS have an interstitial deletion of 15q11-q13. Regarding the remaining individuals with PWS, maternal uniparental disomy is the cause in 20% of cases, imprinting errors in 3% of cases, and chromosomal translocation in approximately 1% of cases. Regarding the remaining cases of AS, paternal uniparental disomy accounts for 2% of cases and mutations in the UBE3A gene for 20% of cases.The PWS/AS critical region was examined by fluorescence in situ hybridization (FISH), methylation-specific PCR (M-PCR), and methylation-specific multiplex-ligation dependent probe amplification(MS-MLPA). In a retrospective study at the National Chen-Kung University Hospital,Tainan, Taiwan, data were reviewed from cases that were referred for molecular diagnosis between January 1, 2001, and December 31, 2014.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- Up to 45 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- During January 1, 2001, and December 31, 2014, cases were referred for molecular diagnosis such as individual with clinical features related to Prader-Willi syndrome or Angelman syndrome ; fetus with deletion or duplication of chromosome 15q11.2-q13 visible by the microscope; fetus whose mother or father has chromosomal abnormality involving 15q11.2-q13 and fetus with mosaic trisomy 15
Key inclusion criteria (4 listed)
- Individual with clinical features related to Prader-Willi syndrome or Angelman syndrome;
- Fetus with suspicious deletion or duplication of chromosome 15q11.2-q13 visible by the microscope;
- Fetus whose mother or father has chromosomal abnormality involving 15q11.2-q13
- Fetus with mosaic trisomy 15
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
M-PCR(methylation-specific PCR)
Time frame: up to 4 weeks after diagnosis
Abnormal pattern of M-PCR can identify PWS or AS
FISH(fluorescent in-situ hybridization)
Time frame: up to 4 weeks after diagnosis
A "FISH" test will identify PWS/AS due to a deletion, but it will not identify those by UPD or an imprinting error.
STR(short tandem repeat) for UPD (uniparental disomy)
Time frame: up to 4 weeks after diagnosis
A '"STR" test can identify PWS/AS duo to paternal or maternal UPD.
MS-MLPA (methylation-specific multiplex-ligation-dependent probe amplification)
Time frame: up to 4 weeks after diagnosis
Use of the quantitative MS-MLPA method provides detailed information about deletions, rare duplications, and possibly UPD
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 7 Apr 2023.
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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.
Pao-Lin Kuo, MD study director
Department of Obstetrics and Gynecology, National Chen-Kung University Hospital
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 Mental Disorder and Fetus Disorder, run by National Cheng-Kung University Hospital at 1 site in Taiwan.
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 0 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 7 Apr 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 Taiwan. 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?
M-PCR(methylation-specific PCR) (time frame: up to 4 weeks after diagnosis). The study lists 4 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 7 Apr 2023.