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Mendelian Disorders clinical trials

View clinical trials related to Mendelian Disorders.

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NCT ID: NCT05290701 Enrolling by invitation - Clinical trials for Genetic Diseases, Inborn

Evaluating Prenatal Exome Sequencing Study

EPES
Start date: February 21, 2022
Phase:
Study type: Observational

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.

NCT ID: NCT03589079 Recruiting - Genetic Disorder Clinical Trials

Delineation of Novel Monogenic Disorders in the United Arab Emirates Population

Start date: January 1, 2018
Phase:
Study type: Observational

The study aims to identify novel monogenic phenotypes from specific pedigrees and discover the underlying causal genetic variant using genetic sequencing (Sanger and/or Next Generation Sequencing - Panel/WES/WGS) methodologies in families across the United Arab Emirates (UAE).

NCT ID: NCT03211039 Active, not recruiting - Genetic Diseases Clinical Trials

Perinatal Precision Medicine

NSIGHT2
Start date: June 29, 2017
Phase: N/A
Study type: Interventional

This study will seek to determine if rapid genomic sequencing improves outcomes for acutely ill infants. The investigator will enroll up to 1,000 acutely ill infants in a prospective, randomized, blinded study to either rapid Whole Genome Sequencing (WGS) or rapid Whole Exome Sequencing (WES, which is 2% of the genome and ~4-fold less expensive). 213 infants were actually enrolled. Outcomes will be measured both by objective clinical measures and family perceptions (patient/family centered outcomes). Primary analysis of WGS or WES will be in infants alone. Secondary analysis, in infants who do not receive a diagnosis, will be of families - ideally trios (mother, father, and affected infant), which is ~2-fold more expensive. Trios will be analyzed within the same randomization arm (WGS or WES). This study is designed to quantify which acutely ill infants benefit from rapid genomic sequencing, by how much they benefit, how they benefit, which rapid genomic sequencing method is superior, and the cost effectiveness of such testing.

NCT ID: NCT02021734 Active, not recruiting - Mendelian Disorders Clinical Trials

Genetics of Mendelian Diseases in Qatar

Start date: November 19, 2012
Phase:
Study type: Observational

There are certain categories of diseases which are more prevalent in the Arab world due to increased rates of consanguinity in relatively isolated populations. The goal is to discover these mutations by using next-generation human genetics tools.