Clinical trials: Genetic Profile
Tumor Genomic Profiling
Cancer Patients Decision Making and Family Communication About Secondary Findings From Tumor Genomic Profiling
The objective of this protocol is to characterize cancer patients' responses to learning their secondary findings arising from tumor genomic profiling, and the process and outcomes of their decisions to communicate these results…
- Trial name
- NCT02713334
- Testing
- survey, semi-structured interview
- Where
- United States
- Volunteers
- 495 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
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
Spinal Muscular Atrophy
Characterization of the Clinical-epidemiological Profile of Patients With SMA5q Types II and III: Observational Study
This study aims to characterize the clinical-epidemiological profile and baseline characteristics of patients with spinal muscular atrophy (SMA) 5q types II and III in follow-up at the Brazilian Unified Public Health System…
- Trial name
- NCT04404764
- Testing
- Nusinersen Injectable Product
- Where
- 9 sites in Brazil
- Volunteers
- 155 people, healthy volunteers welcome
- Sponsor
- Hospital Israelita Albert Einstein
Prostate Cancer, Prostate Biopsy
The PROFILE Study: Germline Genetic Profiling: Correlation With Targeted Prostate Cancer Screening and Treatment
Prostate cancer is now the most common cancer in men in the Western world. In the United Kingdom (UK), there were over 52,000 new cases diagnosed in 2016-2018 and a lifetime risk of 1 in 8.
- Conditions
- Prostate Cancer, Prostate Biopsy, Genetic Counselling, Genetic Markers
- Trial name
- PROFILE (NCT02543905)
- Testing
- Prostate MRI and Biopsy
- Where
- United Kingdom
- Volunteers
- 1,600 people, healthy volunteers welcome
- Sponsor
- Institute of Cancer Research, United Kingdom
Lactose Intolerance
Effect of a Standard Meal on the Pharmacokinetic Profile of RP-G28 in Healthy Adult Male and Female Subjects
Randomized, open-label, 2-period, 2-sequence, crossover study to evaluate the effect of a standard meal on the pharmacokinetic (PK) profile of orally administered RP-G28.
- Trial name
- RP (NCT03563846)
- Testing
- RP-G28
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Ritter Pharmaceuticals, Inc.
Hutchinson-Gilford Progeria Syndrome, Werner Syndrome
Phase I Study of Progerinin in Healthy Volunteers
PRG-PRO-001 is a Phase I, Randomized, Double-blind, Placebo-Controlled, Single Ascending Dose (SAD) Study including a food interaction study, followed by a Multiple Ascending Dose (MAD) Study to Evaluate the Safety, Tolerability…
- Trial name
- NCT04512963
- Testing
- Progerinin
- Where
- United States
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- PRG Science & Technology Co., Ltd.
Intermuscular Adipose Tissue Quantification
Impact of Muscle Fat Accumulation on the Genomic Profile of Skeletal Muscle in Older Adults
Subjects were asked to come to the Purdue facilities after an overnight fast on 2 different testing days for 2.5 hours each day.
- Trial name
- NCT02187965
- Where
- United States
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- Purdue University
Hereditary Angioedema
Autonomic Nervous System Profile in Hereditary Angioedema
The goal of this study is to compare the autonomic nervous system control of patients with hereditary angioedema to healthy individuals.
- Trial name
- ANS-HAE (NCT06408805)
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Istituti Clinici Scientifici Maugeri SpA
Familial Hypercholesterolemia
Effect of Breastfeeding on Lipid Profile and Cardiovascular Risk Markers in Women With Familial Hypercholesterolemia
The study aims to investigate the effects of breastfeeding on lipid profile and cardiovascular risk markers in women with familial hypercholesterolemia (FH) compared to women without FH.
- Trial name
- FH-FEMINA (NCT05367310)
- Where
- 4 sites in Czechia, Netherlands and 1 more
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Oslo University Hospital
BRCA1 Gene Mutation, BRCA2 Gene Mutation
Transformation Potential of E2 Exposed Breast Cancer Susceptibility Gene Mutation Heterozygous Epithelial Breast Cells
Susceptibility to breast cancer is related to the combination of genetic, hormonal and multiple other environmental risk factors, such as mutations in the BRCA gene and excess exposure to exogenous estrogen, respectively.
- Trial name
- NCT01907438
- Where
- Israel
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Aging; Without Mention of Psychosis
Genetic and Physiological Aspects of Oxidative Profile in Sleep and Well-succeed Aging
The present study proposes the characterization of sleep patterns of healthy young adults, elderly individuals and individuals above 85 years old, using polysomnographic recordings, in order to clarify the importance of sleep in…
- Trial name
- NCT01480037
- Where
- Brazil
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Associação Fundo de Incentivo à Pesquisa
Juvenile Idiopathic Arthritis (JIA), Familial Mediterranean Fever (FMF )
Gait Profile and Variables in Pediatric Rheumatic Disease Using a Smart Insole System
In pediatric rheumatic diseases, joint swelling, effusion, tenderness, and painful restriction of joint movement, particularly in weight-bearing joints, frequently alter walking function.
- Conditions
- Juvenile Idiopathic Arthritis (JIA), Familial Mediterranean Fever (FMF ), Healthy Controls
- Trial name
- NCT06705673
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
Other Diseases or Conditions
Mother-caregivers of Children With Duchenne Muscular Dystrophy
The incidence of Duchenne Muscular Dystrophy (DMD) is approximately 1 in 3.500 male newborns. During its progression there is loss of mobility, swallowing difficulties and a significant reduction in respiratory capacity.
- Trial name
- DMDK (NCT01921374)
- Testing
- sleep parameters, Hormonal profile, Inflammatory profile
- Where
- Brazil
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Monica Levy Andersen
Gout, Hyperuricemia
The Effect of Colchicine on the Pharmacokinetic Profile of LC350189 in Healthy Aldults.
This is a Phase 1, open-label, fixed-sequence, 3-period, 2-way drug interaction study designed to assess the PK, PD, safety, and tolerability of LC350189 and colchicine when administered alone and in combination in healthy…
- Trial name
- NCT03927677
- Testing
- Xanthine Oxidase Inhibitor
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- LG Chem
Klinefelter Syndrome, Hypogonadism
Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome
This study will elucidate how the parental origin of the X-chromosome influences health status as well as metabolic fate in Klinefelter patients.
- Trial name
- IZKF-CRA03-09 (NCT01703676)
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University Hospital Muenster
Whole Genome Sequencing, Acute Myeloid Leukemia
Whole Genome Sequencing (ChromoSeq) as an Adjunct to Conventional Genomic Profiling in AML and MDS
This is a single institution, prospective study of the whole genome sequencing assay, ChromoSeq. Using prospectively collected patient data, coupled with physician surveys, the investigators seek to determine the feasibility of…
- Conditions
- Whole Genome Sequencing, Acute Myeloid Leukemia, Myelodysplastic Syndromes
- Trial name
- NCT04986657
- Testing
- ChromoSeq
- Where
- United States
- Volunteers
- 325 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Hereditary Angioedema
Phase 1 Crossover Study in Healthy Subjects to Evaluate the PK Profile of KVD824 Following Single and Multiple Doses of Modified Release (MR) Formulations
This is a 3 part, phase 1 crossover study in healthy subjects to evaluate the pharmacokinetic profile of KVD824 following single and multiple doses of novel KVD824 modified-release formulations compared with a reference KVD824…
- Trial name
- NCT05118958
- Testing
- KVD824 Prototype 1 modified-release tablet, KVD824 Prototype 2 modified-release tablet, KVD824 Immediate-Release Capsule
- Where
- United Kingdom
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- KalVista Pharmaceuticals, Ltd.
Genetic Testing
Improving Genetic Medicine for Ethnic Minority Groups
A key aim of the nationally commissioned Genomic Medicine Service (GMS) in England is to encourage equity of access between different patient groups, however, there is evidence to suggest that it is being under-utilised by ethnic…
- Trial name
- NCT07309835
- Where
- United Kingdom
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Guy's and St Thomas' NHS Foundation Trust
Genomic Human Endometrial Expression Profile
Endometrial Genomic Profile in Endometrial Priming
The aim of this study is to analyse genomics profile expression in endometrium under different endometrial priming for recipients.
- Trial name
- NCT01778452
- Testing
- endometrial biopsy
- Where
- Spain
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Instituto Valenciano de Infertilidad, IVI VALENCIA
Growth Hormone Deficiency, Idiopathic Short Stature
Skeletal Muscle Effects of GH in Boys
The purpose of the study is to measure the functional effects of recombinant GH in skeletal muscle, in addition to growth promotion, in short prepubertal boys with either growth hormone deficiency or idiopathic short stature.
- Trial name
- NCT04020913
- Testing
- Somatropin injection
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic