Diagnosis of Prader-Willi Syndrome and Angelman Syndrome

NCT04155944 | Completed

• 1 other identifier: B-ER-102-155-t
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

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.

Conditions

Mental Disorder; Fetus Disorder

Keywords

M-PCR; FISH; MLPA; deletion; uniparental disomy; imprinting mutation

Outcome Measures

Primary Outcomes (4)

• M-PCR(methylation-specific PCR)

  Abnormal pattern of M-PCR can identify PWS or AS

  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.

  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.

  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

  up to 4 weeks after diagnosis

Eligibility Criteria

• Age: Up to 45 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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

You may qualify if:

• 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

Sponsors & Collaborators

• National Cheng-Kung University Hospital: lead

Study Sites (1)

National Cheng-Kung University Hospital

Tainan, 70428, Taiwan

Location

Biospecimen

Retention: NONE RETAINED

fetal DNA extracted from amniocyte, cord blood, or chorionic villus

MeSH Terms

Conditions

Mental Disorders; Fetal Diseases; Uniparental Disomy

Condition Hierarchy (Ancestors)

Pregnancy Complications; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nondisjunction, Genetic; Chromosome Aberrations; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Pao-Lin Kuo, MD

  Department of Obstetrics and Gynecology, National Chen-Kung University Hospital

  STUDY DIRECTOR

Study Design

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

Study Record Dates

• First Submitted: October 28, 2019
• First Posted: November 7, 2019
• Study Start: August 1, 2013
• Primary Completion: December 1, 2014
• Study Completion: December 1, 2014
• Last Updated: April 7, 2023

Record last verified: 2018-08

Locations

TW (1)