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Completed

NCT Number: NCT04155944

Diagnosis of Prader-Willi Syndrome and Angelman Syndrome

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.

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Key information

Conditions

Mental Disorder Chromosome Aberrations Congenital, Hereditary, and Neonatal Diseases and Abnormalities Female Urogenital Diseases and Pregnancy Complications Fetal Diseases Fetus Disorder Mental Disorders Nondisjunction, Genetic Pathologic Processes Pathological Conditions, Signs and Symptoms Pregnancy Complications Uniparental Disomy Urogenital Diseases

Age range

Up to 45 year

Sex eligibility

All sexes

Study type

Observational

Primary location

National Cheng-Kung University Hospital

Tainan, 70428, Taiwan

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  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

Sponsors and collaborators

Lead sponsor

National Cheng-Kung University Hospital

Other

Registry information

Official study title

Dr. Pao-Lin Kuo (Department of Obstetrics and Gynecology)

Important dates

Study start
2013
Primary completion
2014
Study completion
2014
First posted
Nov 7, 2019
Registry last updated
Apr 7, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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