Clinical trials: Genetic Testing
Pregnancy, Down Syndrome
Comparison of Aneuploidy Risk Evaluations
This is a prospective, multi-center observational study designed to compare the test results of the Verinata Health Prenatal Aneuploidy Test to results of conventional prenatal screening for fetal chromosome abnormalities in…
- Conditions
- Pregnancy, Down Syndrome, Edwards Syndrome, Patau Syndrome
- Trial name
- CARE (NCT01663350)
- Where
- 26 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Verinata Health, Inc.
Pancreatic Adenocarcinoma, Pancreatic Cancer
ARTEMIS: Study of Patients With Early Stage Pancreatic Cancer Who Have Undergone Genetic Testing
This study includes participants with pancreatic cancer who are undergoing genetic testing at Invitae related to their diagnosis of pancreatic cancer. Our goal in this study is two-fold.
- Conditions
- Pancreatic Adenocarcinoma, Pancreatic Cancer, Resectable Pancreatic Cancer
- Trial name
- ARTEMIS (NCT05380557)
- Testing
- Germline genetic testing
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Invitae Corporation
Down Syndrome, Fetal Aneuploidy
Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
- Trial name
- NCT01555346
- Where
- 29 sites in United States, Canada
- Volunteers
- 3,062 people
- Sponsor
- Sequenom, Inc.
Microdeletion Syndromes, Trisomy 21
Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on…
- Conditions
- Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- Microdel Triad (NCT02109770)
- Where
- 2 sites in United States
- Volunteers
- 216 people
- Sponsor
- Natera, Inc.
Pregnancy Related
Cell-Based Noninvasive Prenatal Testing
The purpose of the overall study is to develop improved methods for recovery and analysis of fetal cells from the mother's blood in order to develop clinically useful forms of cell-based, diagnostic, noninvasive prenatal testing…
- Trial name
- NIPT (NCT05245266)
- Testing
- Redraw for analysis of blood samples from healthy pregnant women
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Luna Genetics
Congenital Sucrase-isomaltase Deficiency (CSID)
Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Congenital sucrose-isomaltase deficiency (CSID) is a rare, genetic disease in which mutations in the sucrose-isomaltase (SI) gene cause digestion problems of sucrose resulting in diarrhea and abdominal pain.
- Trial name
- CSID GPS (NCT01914003)
- Where
- 19 sites in United States
- Volunteers
- 53 people
- Sponsor
- QOL Medical, LLC
Limb-Girdle Muscular Dystrophy ; Subtypes 2A, 2B, and 2I
Limb-Girdle Video Assessment
The purpose of this study is to develop a new remote-based video assessment outcome measure for Limb-Girdle Muscular Dystrophy (LGMD) trials. The overall objectives for this study are: 1.
- Trial name
- NCT05528757
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- The Emmes Company, LLC
X-linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia
Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status
The investigators propose to obtain facial photographs for use in testing a computer algorithm that recognizes males at high risk for Hypohidrotic Ectodermal Dysplasia (XLHED).
- Trial name
- ECP-013 (NCT01629940)
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Phenylketonuria
Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period
The primary objective of the study is to evaluate the proportion of responders (that is, greater than or equal to [>=] 30 percent reduction from Baseline in blood phenylalanine [Phe] level) to treatment with Kuvan® (sapropterin…
- Trial name
- ENDURE (NCT01082328)
- Testing
- Kuvan®
- Where
- Norway
- Volunteers
- 59 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Colitis, Ulcerative
A Study to Evaluate the Accuracy of a Subset of the Length-109 Probe Set Panel (a Genetic Test) in Predicting Response to Golimumab in Participants With Moderately to Severely Active Ulcerative Colitis
The purpose of this study is to evaluate the accuracy of a subset of the length-109 probe set panel (a genetic test) in predicting response to golimumab treatment in participants with moderately to severely active ulcerative…
- Trial name
- NCT01988961
- Testing
- Golimumab
- Where
- 45 sites in United States, Belgium and 10 more
- Volunteers
- 103 people
- Sponsor
- Janssen Research & Development, LLC
Infertility
Overture Metabolomics Non-Selection Study
In this study, study investigators will collect embryo culture media on day 5 of vitro fertilization (IVF) culture, prior to vitrification and embryo transfer for testing via Metabolomic screening.
- Trial name
- NCT04878991
- Testing
- Overture Metabolomics Embryo Selection
- Where
- 2 sites in United States, Spain
- Volunteers
- 410 people, healthy volunteers welcome
- Sponsor
- Overture Life
Atopic Dermatitis (Eczema)
The Effects of an Oral Prebiotic and an Oral Synbiotic Supplement in Combination With a Topical Lotion and Soap On Eczema
The purpose of this study is to examine the effects of 2 dietary supplements (an oral prebiotic and an oral synbiotic) in combination with a topical lotion, and an unscented soap on eczema severity, various skin measures (such as…
- Trial name
- NCT07041892
- Testing
- Prebiotic Supplement + Synbiotic Supplement + Topical Lotion + Unscented Soap
- Where
- Poland
- Volunteers
- 34 people
- Sponsor
- Codex Labs Corporation
Aneuploidy, Trisomy 21
Prenatal Test for Fetal Aneuploidy Detection
The purpose of this study is to develop and evaluate a blood test for pregnant women for detection of fetal aneuploidy.
- Trial name
- NCT01256606
- Where
- 6 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Roche Sequencing Solutions
Dermatitis, Atopic
A Study in Patients With Atopic Eczema to Test How Effective BI 655130 is and How Well it is Tolerated
The primary objective of this trial is to investigate the safety, tolerability and efficacy of BI 655130 in patients with Atopic Dermatitis (AD) following repeated intravenous administrations compared to placebo.
- Trial name
- NCT03822832
- Testing
- BI 655130
- Where
- 23 sites in United States, Canada and 1 more
- Volunteers
- 51 people
- Sponsor
- Boehringer Ingelheim
Phenylketonuria (PKU)
A Self-test Home-use Blood Phenylalanine Monitoring System Under the Brand Name Egoo Phe System Has Been Developed for Measurement of Phenylalanine (Phe) in Individuals Diagnosed With Phenylketonuria (PKU): The Study Purpose is to Evaluate Accuracy and Usability
A home-use self-test blood phenylalanine monitoring system under the brand name Egoo Phe System from manufacturer Egoo Health Aps has been developed for measurement of phenylalanine (Phe) in individuals diagnosed with…
- Trial name
- NCT06940193
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- Egoo Health Aps
Pain, Chronic Pain
A Study of the Impact of Genetic Testing on Clinical Decision Making and Patient Care
The purpose of this study is to evaluate the impact of genetic testing on healthcare decisions and patient outcomes for patients suffering from pain, cardiovascular problems, Arthritis, Type II Diabetes, and/or Mental Health…
- Conditions
- Pain, Chronic Pain, Mental Disorders, Cardiovascular Diseases
- Trial name
- REVOLUTION (NCT02487888)
- Testing
- Unblinded to Genetic Testing Results, Blinded to Genetic Testing Results
- Where
- 31 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Proove Bioscience, Inc.
Adenocarcinoma, Adenocystic Carcinoma
The Registry of Oncology Outcomes Associated With Testing and Treatment
This study is to collect and validate regulatory-grade real-world data (RWD) in oncology using the novel, Master Observational Trial construct. This data can be then used in real-world evidence (RWE) generation.
- Conditions
- Adenocarcinoma, Adenocystic Carcinoma, Anal Cancer, Appendix Cancer
- Trial name
- ROOT (NCT04028479)
- Testing
- Biomarker Testing (L), Systemic Treatment (T), Patient Reported Outcomes (P)
- Where
- 2 sites in United States
- Volunteers
- 167 people
- Sponsor
- Taproot Health
Hypohidrotic Ectodermal Dysplasia, X-Linked Hypohidrotic Ectodermal Dysplasia
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey
In this survey of X-Lined Hypohidrotic Ectodermal Dysplasia (XLHED) carrier females, Edimer proposes to review responses to an XLHED Carrier Outlook toward Reproduction Survey in order to understand attitudes toward reproduction…
- Trial name
- X-CORS (NCT01398813)
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Edimer Pharmaceuticals
Down Syndrome
Non-drug Study to Assess the Suitability of Assessment Scales in Japanese Individuals With Down Syndrome Aged 6-30
To evaluate the suitability (i.e. number of tests completed and number of participants completing the tests, variance estimate of baseline and of the change from baseline values) of neurocognitive tests and functioning scales in…
- Trial name
- NCT02431117
- Where
- 7 sites in Japan
- Volunteers
- 43 people
- Sponsor
- Chugai Pharmaceutical
Pregnancy Related
Cell- Based Noninvasive Prenatal Testing (NIPT): Single Cell Prenatal Diagnosis (SCPD)
The purpose of the overall study is to develop improved methods for recovery of fetal cells from the mother's blood in order to develop a clinically useful form of cell-based, diagnostic, noninvasive prenatal testing (NIPT).
- Trial name
- NIPT & SCPD (NCT05076734)
- Testing
- Redraw for analysis of blood samples from healthy pregnant women
- Where
- United States
- Volunteers
- 157 people, healthy volunteers welcome
- Sponsor
- Luna Genetics