Clinical trials: Genetic Screening
- Condition Genetic Screening
- Funder type Industry (pharma, biotech, devices)
- Age group Children (under 18)
Down Syndrome, Patau Syndrome
Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies
The purpose of this study is to evaluate the performance of the IONA® test which is a non-invasive prenatal test (NIPT) for Down's syndrome and other chromosomal abnormalities in twin pregnancies, from a maternal blood sample.
- Conditions
- Down Syndrome, Patau Syndrome, Edward's Syndrome
- Trial name
- TWIN (NCT03200041)
- Testing
- Blood sample
- Where
- United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Premaitha Health
Pompe Disease
Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease
Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00113035
- Where
- 5 sites in United States
- Volunteers
- 60 people
- Sponsor
- Genzyme, a Sanofi Company
Down Syndrome, Aneuploidy
Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies
To collect samples for the purpose of developing and optimizing an in vitro noninvasive prenatal diagnostic (NIPD) test. The NIPD test employs circulating cell free (ccff) DNA extracted from whole blood samples collected from…
- Trial name
- CHARMM-AP (NCT01052688)
- Testing
- Maternal blood draw of 30 to 50ml
- Where
- 10 sites in United States
- Volunteers
- 150 people
- Sponsor
- Sequenom, Inc.
Lysosomal Acid Lipase Deficiency
Screening for Lysosomal Acid Lipase Deficiency
The primary outcome of this study is the development of a clinical profile of pediatric patients with LAL-D, which will enable the Sponsor to provide more focused guidance to the medical community as to which pediatric patients…
- Trial name
- NCT02926872
- Testing
- There is no intervention in the study
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Down Syndrome
A Screening Protocol to Assess Adults and Adolescents With Down Syndrome for Eligibility For Upcoming Study of RG1662 (Study BP27832)
This is a single visit study in which people with Down syndrome aged 12-30 will attend the clinical center to undergo assessments to evaluate their eligibility for potential enrollment in the future BP27832 Phase II clinical…
- Trial name
- NCT01920633
- Where
- 22 sites in United States, Argentina and 5 more
- Volunteers
- 135 people
- Sponsor
- Hoffmann-La Roche
Infertility
Correlating Time-Lapse Parameters Detected by the Eeva™ System With Comprehensive Chromosome Screening Results
The purpose of this research study protocol is to collect imaging data on embryos followed to blastocyst stage (Day 5-6) and correlate Eeva System parameters with comprehensive chromosome screening (CCS) results, implantation and…
- Trial name
- CCS (NCT01635049)
- Where
- 2 sites in United States
- Volunteers
- 110 people
- Sponsor
- Progyny, Inc.
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Hunter Syndrome
Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®
This study is being conducted to identify pediatric patients with Hunter syndrome who have neurodevelopmental disease characteristics, who are currently receiving treatment with Elaprase, and who may be suitable to participate in…
- Trial name
- NCT00937794
- Testing
- Neurobehavioral testing, Visual and auditory assessments
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 33 people
- Sponsor
- Shire
Infertility
Oocyte Donor Application Discrepancies
Retrospective observational study comparing information received on Inception Central Donor Recruitment's standardized online egg donor application compared to information reported during a Genetic Risk Assessment (GRA)…
- Trial name
- NCT06362551
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- Inception Fertility Research Institute, LLC
Breast Neoplasms
Screening Tool Artificial Intelligence-based for Predicting the Genetic Risk of BREAST Cancer
It is a retrospective observational study that will include female patients aged 18 years or older, who were treated between 2017 and 2024, in both public and private institutions, and identified as at high genetic risk by breast…
- Trial name
- STAR-BREAST (NCT07070128)
- Where
- 3 sites in Brazil
- Volunteers
- 800 people
- Sponsor
- AstraZeneca
Gaucher Disease, Type 1
A Screening Study Evaluating Disease Status of Gaucher Type I Patients
A screening study to identify and characterize the disease status of patients with Gaucher Type 1 disease for potential inclusion in a subsequent phase 3 clinical study.
- Trial name
- NCT00795197
- Where
- 3 sites in United States, India
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis (MPS)
Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)
Mucopolysaccharidosis (MPS) type II (MPS II; Hunter syndrome) is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S) and occurs almost exclusively in boys, with an incidence of…
- Trial name
- NCT02095015
- Where
- 14 sites in United States, Canada and 5 more
- Volunteers
- 159 people
- Sponsor
- Shire
Pancreatic Ductal Adenocarcinoma, Familial Pancreatic Cancer
A Study of IMMray™ PanCan-d Test for Early Detection of Pancreatic Cancer in High-risk Groups
PanFAM-1 is a clinical study for early detection of pancreatic cancer in high-risk groups. The goals of the study are to assess the performance and diagnostic accuracy of the IMMray™ PanCan-d test compared to standard-of-care…
- Conditions
- Pancreatic Ductal Adenocarcinoma, Familial Pancreatic Cancer, FAMMM - Familial Atypical Mole Malignant Melanoma Syndrome
- Trial name
- NCT03693378
- Where
- 21 sites in United States, Canada and 3 more
- Volunteers
- 1,349 people, healthy volunteers welcome
- Sponsor
- Immunovia, Inc.
Von Willebrand Disease (VWD), Von Willebrand Disease (VWD), Type 1
A Study of Bleeding and Treatment in Participants With Von Willebrand Disease
The purpose of this screening study is to accumulate information regarding bleeding events, quality of life, and the social and clinical impact of bleeds in participants with Von Willebrand Disease (VWD).
- Conditions
- Von Willebrand Disease (VWD), Von Willebrand Disease (VWD), Type 1, Von Willebrand Disease (VWD), Type 2, Von Willebrand Disease (VWD), Type 3
- Trial name
- NCT06610201
- Testing
- Clinical outcomes of patients with VWD, Type 1, Clinical outcomes of patients with VWD, Type 2A, Type 2M, Type 2N, or Type 3
- Where
- 17 sites in United States, Australia and 1 more
- Volunteers
- 200 people
- Sponsor
- Hemab ApS
Osteogenesis Imperfecta
Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI
This is a prospective, multicenter, single-arm study in children 2 to 17 years of age with OI to evaluate efficacy and safety of denosumab.
- Trial name
- OI (NCT02352753)
- Testing
- Denosumab
- Where
- 49 sites in United States, Australia and 11 more
- Volunteers
- 153 people
- Sponsor
- Amgen
Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)
Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD)
Gene Security Network has developed a novel technology called Parental SupportTM (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF).
- Trial name
- IVF008 (NCT01023048)
- Testing
- preimplantation diagnosis
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Hemophilia B, Blood Coagulation Disorders, Inherited
AAV Gene Therapy Screening/Observational Protocol (ECLIPSE)
Freeline is developing adeno-associated virus (AAV) vector based gene therapies for a number of diseases and is actively advancing a programme in Haemophilia B (HB).
- Conditions
- Hemophilia B, Blood Coagulation Disorders, Inherited, Blood Coagulation Disorder, Haematologic Disease
- Trial name
- ECLIPSE (NCT04272554)
- Where
- 56 sites in United States, Australia and 10 more
- Volunteers
- 37 people
- Sponsor
- Spur Therapeutics