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Diagnosis of Prader-Willi Syndrome and Angelman Syndrome

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ClinicalTrials.gov Identifier: NCT04155944
Recruitment Status : Completed
First Posted : November 7, 2019
Last Update Posted : November 7, 2019
Sponsor:
Information provided by (Responsible Party):
National Cheng-Kung University Hospital

Brief 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.

Condition or disease
Mental Disorder Fetus Disorder

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.

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Study Type : Observational
Actual Enrollment : 60 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Dr. Pao-Lin Kuo (Department of Obstetrics and Gynecology)
Actual Study Start Date : August 2013
Actual Primary Completion Date : December 2014
Actual Study Completion Date : December 2014





Primary Outcome Measures :
  1. M-PCR(methylation-specific PCR) [ Time Frame: up to 4 weeks after diagnosis ]
    Abnormal pattern of M-PCR can identify PWS or AS

  2. 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.

  3. 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.

  4. 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


Biospecimen Retention:   None Retained
fetal DNA extracted from amniocyte, cord blood, or chorionic villus


Information from the National Library of Medicine

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Ages Eligible for Study:   up to 45 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
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
Criteria

Inclusion Criteria:

  • 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

Exclusion Criteria:


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04155944


Locations
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Taiwan
National Cheng-Kung University Hospital
Tainan, Taiwan, 70428
Sponsors and Collaborators
National Cheng-Kung University Hospital
Investigators
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Study Director: Pao-Lin Kuo, MD Department of Obstetrics and Gynecology, National Chen-Kung University Hospital
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Responsible Party: National Cheng-Kung University Hospital
ClinicalTrials.gov Identifier: NCT04155944    
Other Study ID Numbers: B-ER-102-155-t
First Posted: November 7, 2019    Key Record Dates
Last Update Posted: November 7, 2019
Last Verified: August 2018
Keywords provided by National Cheng-Kung University Hospital:
M-PCR
FISH
MLPA
deletion
uniparental disomy
imprinting mutation
Additional relevant MeSH terms:
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Disease
Mental Disorders
Pathologic Processes