Clinical trials: Genetic Profile
Coronavirus Infection (COVID-19), Pulmonary Arterial Hypertension
Pharmacokinetics, Pharmacodynamics, and Safety Profile of Understudied Drugs Administered to Children Per Standard of Care (POPS)
The study investigators are interested in learning more about how drugs, that are given to children by their health care provider, act in the bodies of children and young adults in hopes to find the most safe and effective dose…
- Conditions
- Coronavirus Infection (COVID-19), Pulmonary Arterial Hypertension, Urinary Tract Infections in Children, Hypertension
- Trial name
- POPS or POP02 (NCT04278404)
- Testing
- The POP02 study is collecting bodily fluid samples (i.e., whole blood, effluent samples) of children prescribed the following drugs of interest per standard of care:
- Where
- 52 sites in United States, Canada
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Duke University
Down Syndrome
Functional Communicative Profile of Children With Down Syndrome
The aim of this study was to verify the use of communicative functions by children with DS in two interaction conditions: interaction with therapist and interaction with parent.
- Trial name
- NCT00844259
- Where
- Brazil
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Cystic Fibrosis
Safety, Pharmacokinetic and Pharmacodynamic Study of MP-376 in Patients With Cystic Fibrosis
Patients with cystic fibrosis (CF) suffer from chronic infections of the lower respiratory tract that can be caused by one or multiple bacteria, including Pseudomonas aeruginosa, which has been particularly problematic to…
- Trial name
- NCT00503490
- Testing
- MP-376 (Levofloxacin solution for Inhalation)
- Where
- 14 sites in United States
- Volunteers
- 40 people
- Sponsor
- Amgen
Prader-Willi Syndrome
PWS European Blood Bank for Infants and Controls From 0 to 48 Months
The present project aims to determine the underlying mechanisms for the switch from failure to thrive to excessive weight gain and hyperphagia with impaired satiety in PWS.
- Trial name
- NCT02529085
- Testing
- blood samples
- Where
- 6 sites in Belgium, France and 4 more
- Volunteers
- 215 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
Down Syndrome
Phosphoproteomic Profile of Children With Down Syndrome
One of the major causes of cognitive disorders limiting the learning abilities of children with Down's syndrome is excess activity of the DYRK1A protein kinase, whose gene is located on chromosome 21.
- Trial name
- PEPS (NCT06279208)
- Testing
- Blood sample
- Where
- 9 sites in France
- Volunteers
- 60 people
- Sponsor
- Perha Pharmaceuticals
Von Willebrand Disease
Molecular and Clinical Profile of Von Willebrand Disease in Spain
The present Project is a third phase of the previous PCM-EVW-ES Project (Batlle et al. Thromb \& Haemost 2015) with the aim of its extension, further analysis with an innovation development in the field of von Willebrand disease…
- Trial name
- PCM-EVW-ES (NCT02869074)
- Testing
- VWF gene analysis
- Where
- Spain
- Volunteers
- 790 people, healthy volunteers welcome
- Sponsor
- Spanish Society of Thrombosis and Haemostasis
Osteogenesis Imperfecta
Post-market Observational Study on JTIN Telescopic Nail in Osteogenesis Imperfecta Pediatric Patients
This study has been planned as part of the Orthofix Srl post-market active surveillance plan for the collection of data on both the clinical performance and the safety profile of the JTIN.
- Trial name
- JTIN (NCT05612139)
- Testing
- JTIN implantation surgery
- Where
- France
- Volunteers
- 14 people
- Sponsor
- Orthofix s.r.l.
Behcet Disease and Vascular Involvement
Clinical, Biochemical and Epigenetic Profile of Pediatric Behçet Disease
Behçet disease (BD) is a chronic multisystem inflammatory disorder with a relapsing-remitting course. Pediatric-onset BD is rare and characterized by marked clinical heterogeneity, frequent incomplete presentation at disease…
- Trial name
- PED-BD (NCT07375940)
- Testing
- Biomarker analysis of blood samples
- Where
- 2 sites in Italy, United Kingdom
- Volunteers
- 90 people
- Sponsor
- Meyer Children's Hospital IRCCS
Cardiovascular Diseases, Heart Diseases
Genomic Dissection of a QTL Affecting the Lipid Profile
To search for the genetic cause of the metabolic syndrome, a lipid disorder that poses a major risk for coronary heart disease.
- Conditions
- Cardiovascular Diseases, Heart Diseases, Obesity, Hyperlipidemia, Familial Combined
- Trial name
- NCT00064688
- Sponsor
- Medical College of Wisconsin
Bleeding Disorder
Early Genomic Testing for Inherited Bleeding Disorders
The investigators aim to test the introduction of genomic testing early in the diagnostic pathway for inherited bleeding disorders in patients who have not received a diagnosis after first-line testing.
- Trial name
- GT4BD (NCT06736158)
- Testing
- Genetic testing for inherited bleeding disorders
- Where
- 3 sites in Canada
- Volunteers
- 212 people
- Sponsor
- Queen's University
Niemann-Pick Disease, Type C
A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C
This is a prospective non-therapeutic observational study in NP-C patients. The aim is to characterize the individual patient disease progression profile through the historical and 6 months prospective evaluation of clinical…
- Trial name
- NCT02435030
- Where
- 16 sites in Denmark, France and 6 more
- Volunteers
- 35 people
- Sponsor
- ZevraDenmark
Thyroid Nodule, Thyroid Cancer
Genomic Profiling of Nodular Thyroid Disease and Thyroid Cancer
The purpose of this registry is to collect uniform genomics-centered data on patients with nodular thyroid disease and cancer in a prospective fashion.
- Conditions
- Thyroid Nodule, Thyroid Cancer, Thyroid Diseases, Thymic Carcinoma
- Trial name
- NCT03170804
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Aventura Hospital and Medical Center
Advanced Cancers
Genomic Profiling Assay in Phase I
The goal of this research study is to collect and test tumor tissue from patients with advanced cancers that may be enrolled in Phase 1 studies or other treatments.
- Trial name
- NCT02437617
- Testing
- Tumor Tissue
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- M.D. Anderson Cancer Center
Head and Neck Neoplasms
Molecular and Genomic Profiling of Head and Neck Tumors
The purpose of this study is to study the genetic profile of head and neck tumors and their relationship to treatment response and outcome
- Trial name
- NCT00200486
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Montefiore Medical Center
Scleroderma, Localized, Morphea
Morphea in Adults and Children (MAC) Cohort Study: A Morphea Registry and DNA Repository
The Morphea in Adults and Children (MAC) cohort is the first registry for both children and adults with morphea (also known as localized scleroderma) in the country.
- Conditions
- Scleroderma, Localized, Morphea, Frontal Linear Scleroderma en Coup de Sabre, Scleroderma, Circumscribed
- Trial name
- MAC (NCT01808937)
- Testing
- Morphea
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Recurrent Childhood Acute Myeloid Leukemia, Recurrent Childhood Acute Lymphoblastic Leukemia
Ex Vivo Drug Sensitivity Testing and Mutation Profiling
This study is a prospective, non-randomized feasibility study. Freshly isolated tumor cells from patients will be screened using state-of-the-art viability assay designed for ex vivo high-throughput drug sensitivity testing…
- Conditions
- Recurrent Childhood Acute Myeloid Leukemia, Recurrent Childhood Acute Lymphoblastic Leukemia, Recurrent Childhood Large Cell Lymphoma, Refractory Childhood Acute Lymphoblastic Leukemia
- Trial name
- NCT03860376
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Florida International University
Congenital Adrenal Hyperplasia, Adrenal Insufficiency
Evaluation of Circadian Hormonal Balance: LC-MS/MS Measurement of Salivary and Serum Steroids in Patients With Congenital Adrenal Hyperplasia
In congenital adrenal hyperplasia (CAH), lifelong hormone replacement therapy is required to treat adrenal insufficiency and to reduce elevated androgen levels. This is essential to ensure "normal" growth and puberty.
- Conditions
- Congenital Adrenal Hyperplasia, Adrenal Insufficiency, Hyperandrogenism; 21-hydroxylase Deficiency
- Trial name
- MASSALIVE (NCT07718230)
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Primary Hypercholesterolemia and Homozygous Familial Hypercholesterolemia (HoFH)
Vytorin Reexamination Study (0653A-174)
This survey is conducted for preparing application material for re-examination under the Pharmaceutical Affairs Laws and its Enforcement Regulation, its aim is to reconfirm the clinical usefulness of VYTORIN through collecting…
- Trial name
- NCT01070966
- Volunteers
- 2,089 people
- Sponsor
- Organon and Co
Neoplasms
Program to Establish the Genetic and Immunologic Profile of Patient's Tumor for All Types of Advanced Cancer
It is a non-randomized, multicentric, cohort study, combined with a biological sample collection, a clinical data collection and with a genetic and immunologic biomarkers study.
- Trial name
- PROFILER (NCT01774409)
- Testing
- Blood and tumor samples
- Where
- 6 sites in France
- Volunteers
- 10,000 people
- Sponsor
- Centre Leon Berard
Solid Tumors, Hematologic Cancers
Genomic Profiling in Cancer Patients
The purpose of this study is to determine whether certain genes in cancer may be abnormal. When a gene is abnormal this is called a mutation.
- Trial name
- NCT01775072
- Testing
- molecular profiling of tumors, Clinical Germline Analysis
- Where
- 18 sites in United States
- Volunteers
- 200 people
- Sponsor
- Memorial Sloan Kettering Cancer Center