Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders

NCT02339402 | Unknown

• 1 other identifier: NL48304/METC azM/UM 14-02-012
• Study Type: observational
• Target: 160
• Locations: 1 country
• Sites: 2

Brief Summary

Developing a new non-invasive prenatal test for single gene disorders from cell free fetal DNA, retrieved from the mothers blood.

Conditions

Hereditary Disease

Keywords

Cystic fibrosis, Myotonic dystrophy, Noonan, Huntingtons

Outcome Measures

Primary Outcomes (1)

• Development of a targeted molecular test (mostly standard PCR or real-time PCR) for non-invasive prenatal testing of single-gene disorders.

  Main aims are to 1. demonstrate the presence or absence of (a) mutant allele(s) in maternal plasma 2. examine if there is a sufficient concentration of fetal nucleic acids in the maternal plasma to reliably diagnose the monogenic disorder

  2014-2016

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Pregnant women and their partner (≥18y) that undergo an invasive procedure for prenatal genetic diagnosis in the MUMC+ of RUMC for one of the following indications: * fetus at high risk of having inherited a dominant or recessive disorder of his/her affected parent(s) or * fetus at risk of having a de novo disorder on the basis of ultrasonography findings.

You may qualify if:

• the pregnant woman is scheduled for or has recently undergone invasive prenatal testing (regular care) because of one of the following reasons:
• the fetus is at high risk of a having inherited a single-gene disorder from his/her affected parent(s).
• the fetus is at risk of having a de dominant novo disorder on the basis of ultrasonography findings.
• the pregnant woman is 18 years or older
• the pregnant woman has sufficient understanding of Dutch language and is able to give informed consent

You may not qualify if:

• if in the opinion of the treating physician psychological distress is so severe that asking for participation is not safe
• the pregnant woman is treated for a malignancy

Sponsors & Collaborators

• Maastricht University Medical Center: lead
• Radboud University Medical Center: collaborator

Study Sites (2)

Radboud UMC

Nijmegen, Gelderland, 6500HB, Netherlands

RECRUITING

Maastricht UMC

Maastricht, 6202AZ, Netherlands

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Foetal DNA is isolated from the blood of pregnant women and their partners

MeSH Terms

Conditions

Genetic Diseases, Inborn; Cystic Fibrosis; Myotonic Dystrophy

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pancreatic Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Infant, Newborn, Diseases; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases

Study Officials

• Christine de Die, MD PhD

  Maastricht UMC

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Christine EM de Die, MD PhD

CONTACT

0031433877859; c.dedie@mumc.nl

Nienke Muntjewerff, MD

CONTACT

0031433877859; nienke.muntjewerff@mumc.nl

Study Design

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

Study Record Dates

• First Submitted: January 12, 2015
• First Posted: January 15, 2015
• Study Start: June 1, 2014
• Primary Completion: January 1, 2018
• Study Completion: May 1, 2018
• Last Updated: January 13, 2017

Record last verified: 2017-01

Locations

NL (2)