Genetic Diseases, Inborn Clinical Trial
Official title:
Evaluating Prenatal Exome Sequencing Study
This study evaluates the impact of the various outcomes of pES (definitive diagnosis, probable diagnosis and IF) on clinical decision making and on parental psychological wellbeing, compared between different analysis strategies to investigate the clinical utility, defined as the balance between potential harms and benefits.
Foetal anomalies as detected on prenatal ultrasound are present in 2-3% of pregnancies. The diagnosis of a genetic syndrome as the underlying cause often has significant consequences for the prognosis and therefore also a significant impact on parental reproductive decision making. In addition to chromosomal testing, prenatal exome sequencing (pES) is increasingly being offered. Although prenatal diagnostic rates are promising, no studies report on the actual implementation of pES in routine care and thus several important knowledge gaps remain regarding clinical utility (the balance between potential harms and benefits) and the preferred analysis strategy (broad versus targeted analysis). A broad analysis has a possible higher diagnostic yield, but it is unknown whether the increased chance of finding an uncertain diagnosis and Incidental Findings outweighs this benefit when it comes to clinical decision making and parental psychological wellbeing. The central aim of this study is to address the knowledge gaps raised above, and increase clinical utility by using the obtained data to improve analysis strategies and to potentially identify new genes. ;
Status | Clinical Trial | Phase | |
---|---|---|---|
Completed |
NCT03563066 -
Effect of Benralizumab in Atopic Dermatitis
|
Phase 2 | |
Active, not recruiting |
NCT03655678 -
A Safety and Efficacy Study Evaluating CTX001 in Subjects With Transfusion-Dependent β-Thalassemia
|
Phase 2/Phase 3 | |
Completed |
NCT03720470 -
Study Evaluating Efficacy and Safety of PF-04965842 and Dupilumab in Adult Subjects With Moderate to Severe Atopic Dermatitis on Background Topical Therapy
|
Phase 3 | |
Recruiting |
NCT03587155 -
Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation
|
||
Not yet recruiting |
NCT05070234 -
Genetic Diagnosis and Human Growth Hormone Treatment in Small for Gestational Age Children With Short Stature
|
||
Completed |
NCT00458055 -
High-Density Lipoprotein (HDL) Treatment Study
|
N/A | |
Terminated |
NCT01963650 -
Natural History Study of Children With Metachromatic Leukodystrophy
|
||
Recruiting |
NCT05356195 -
Evaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT)
|
Phase 3 | |
Completed |
NCT03721458 -
Whole Genome Sequencing in the Neonatal Intensive Care Unit
|
||
Not yet recruiting |
NCT06337864 -
Evaluating the Efficacy and Safety of Large Neutral Amino Acids in the Treatment of Classical Phenylketonuria
|
N/A | |
Completed |
NCT02884063 -
Utilizing Free DNA in Embryo Culture for PGT
|
||
Completed |
NCT00477594 -
Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia
|
Phase 2 | |
Completed |
NCT03406780 -
A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
|
Phase 2 | |
Completed |
NCT01826487 -
Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
|
Phase 3 | |
Terminated |
NCT02090959 -
An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
|
Phase 3 | |
Recruiting |
NCT05126758 -
A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
|
Phase 3 | |
Completed |
NCT03627767 -
Study to Investigate Efficacy and Safety of PF-04965842 in Subjects Aged 12 Years and Over With Moderate to Severe Atopic Dermatitis With the Option of Rescue Treatment in Flaring Subjects
|
Phase 3 | |
Completed |
NCT03179631 -
Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
|
Phase 3 | |
Completed |
NCT02429947 -
An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients
|
N/A | |
Completed |
NCT00607373 -
Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia
|
Phase 3 |