Clinical trials: Genetic Disorders
Myocardial Infarction (MI), Hypertrophic Cardiomyopathy (HCM)
The Application of T1 Mapping in Real-World
The goal of this observational study is to create a comprehensive real-world spectrum of T1 mapping measurements across different heart conditions.
- Conditions
- Myocardial Infarction (MI), Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Arrhythmogenic Cardiomyopathy
- Trial name
- NCT07354646
- Testing
- Magnetic Resonance Imaging with Contrast
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Genetic Disease
Newborn Genomic Sequencing Pilot Study
The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Newborns who are not suspected of having genetic diseases and who are admitted to the NICU at Rady…
- Trial name
- NCT06276348
- Testing
- Whole genome sequencing, BeginNGS test, WES
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Rady Pediatric Genomics & Systems Medicine Institute
Sotos Syndrome, Beckwith-Wiedemann Syndrome
Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development
Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve an excessive growth of the whole body or of specific body parts.
- Conditions
- Sotos Syndrome, Beckwith-Wiedemann Syndrome, Overgrowth Syndrome, Body Image
- Trial name
- Body-PROBAND (NCT04993235)
- Testing
- NEPSY-II, CBCL and AQ questionnaires, BUT questionnaire and experimental tasks
- Where
- Italy
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Lipoprotein Lipase Deficiency
Study to Re-assess and Re-confirm Data Previously Recorded About the Incidence and Severity of Acute Abdominal "Pancreatitis" Episodes in Lipoprotein Lipase Deficient (LPLD) Subjects Previously Enrolled on AMT Clinical Studies
Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited condition caused by homozygosity or compound heterozygosity for mutations within the LPL gene.
- Trial name
- NCT01448577
- Where
- 2 sites in Canada
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Amsterdam Molecular Therapeutics
Phenylketonuria
Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU
Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. The mainstay of treatment is a Phe-restricted diet, which aims to maintain blood Phe concentrations within the recommended range and prevent…
- Trial name
- NCT07728032
- Testing
- Phenylalanine-restricted diet alone, Sapropterin Dihydrochloride, Sepiapterin
- Where
- United Kingdom
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust
Healthy
A Pharmacokinetics and Safety of Methylphenidate HCl in Healthy Japanese Adult Male Volunteers
The purpose of the study is to evaluate the pharmacokinetics and safety of 3 single doses of Methylphenidate HCl in healthy Japanese adult male volunteers.
- Trial name
- NCT01202734
- Testing
- Methylphenidate HCl
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Johnson & Johnson Pharmaceutical Research & Development, L.L.C.
Atopic Dermatitis
Impact of Narrowband UVB Phototherapy on Systemic Inflammation in Patients With Atopic Dermatitis
Atopic dermatitis (eczema) is a chronic inflammatory disease that causes significant morbidity and is now known to be associated with cardiovascular disease.
- Trial name
- NCT03083730
- Testing
- Narrow band UVB treatment (NB-UVB)
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Rockefeller University
Type 2 Diabetes, Cardiovascular Disease
Risk Factors of Incidence of Type 2 Diabetes and Cardiovascular Diseases---Shanghai Baoshan Study
Objective: Recruit 3 cohorts with 1000-1200 subjects each: people with normal glucose metabolism, impaired glucose regulation (IGR), and with Type 2 diabetes. To study the risk factors in development of type 2 diabetes.
- Trial name
- SBSS (NCT00949416)
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Shanghai Jiao Tong University School of Medicine
Cystic Fibrosis
Breath Analysis in in Adults With Cystic Fibrosis (CF)
Exploratory comparative evaluation of exhaled breath composition in cystic fibrosis patients with age and gender-matched healthy adults in order to identify a disease-specific exhaled breath pattern as well as to gain insight…
- Trial name
- NCT02209571
- Testing
- Venous blood markers
- Where
- Switzerland
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Zurich
Atopic Dermatitis
A PhaseⅠ Comparative Study to Evaluate the Pharmacokinetics of QL2108 to Dupixent®
It is a randomized, double-blinded, parallel, single-dose, PhaseⅠcomparative study to evaluate the pharmacokinetics and safety of QL2108 to Dupixent® in healthy Chinese adult subjects.
- Trial name
- NCT06614907
- Testing
- QL2108 injection, Dupixent®
- Where
- China
- Volunteers
- 198 people, healthy volunteers welcome
- Sponsor
- Qilu Pharmaceutical Co., Ltd.
Periodontal Disease
Genetics of Periodontal Diseases in Chinese (Taiwan)
A retrospective case control study to validate the association between Interleukin-1 gene variations and adult chronic periodontal disease in Chinese (Taiwan).
- Trial name
- NCT01675336
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Kaohsiung Medical University
Brugada Syndrome
Southeast Asian Brugada Syndrome Cohort
Brugada syndrome (BrS) is the leading cause of sudden death in young Asian adults including Thailand. This syndrome may be hereditary and involve mutations in certain genes.
- Trial name
- SEA-BrS (NCT04232787)
- Where
- 11 sites in Thailand
- Volunteers
- 750 people, healthy volunteers welcome
- Sponsor
- Chulalongkorn University
Pancreatic Cancer, Thyroid Cancer
Integrated Cancer Repository for Cancer Research
The iCaRe2 is a multi-institutional resource created and maintained by the Fred \& Pamela Buffett Cancer Center to collect and manage standardized, multi-dimensional, longitudinal data and biospecimens on consented adult cancer…
- Conditions
- Pancreatic Cancer, Thyroid Cancer, Lung Cancer, Esophageal Cancer
- Trial name
- iCaRe2 (NCT02012699)
- Where
- 42 sites in United States
- Volunteers
- 999,999 people, healthy volunteers welcome
- Sponsor
- University of Nebraska
Melanoma, Dysplastic Nevus Syndrome
Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma
This study will investigate how genetic and environmental factors contribute to the development of melanoma, a type of skin cancer, and related conditions.
- Trial name
- NCT00040352
- Where
- 2 sites in United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Down Syndrome
Qualitative Exploratory Study Among Reunionese Women and Their Partners Who Have a Child With Trisomy 21
According to data from French congenital malformation registries, the prevalence of Down Syndrome (DS) in 2017 (live births and medical termination of pregnancy (MToP)) in Reunion Island was the lowest in France (23.04 per 10,000…
- Trial name
- QUALI-21 (NCT04811534)
- Testing
- Interview
- Where
- 2 sites in Reunion
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de la Réunion
Breast Cancer
Genetic Risk Estimation of Breast Cancer Prior to Preventive Medication Uptake
The primary aim of this study is to determine if the addition of an individual polygenic risk score (PRS), in addition to the standard National Cancer Institute's Breast Cancer Risk Assessment Tool (BCRAT) or Tyrer-Cuzick (IBIS)…
- Trial name
- GENRE (NCT02517593)
- Testing
- Polygenic Risk Score
- Where
- 2 sites in United States, Canada
- Volunteers
- 151 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Inborn Errors of Metabolism, Epilepsy (Treatment Refractory)
Metabolites in Blood and Breath in Metabolic Conditions
In patients with inborn errors of metabolism (IEM) and in those requiring a ketogenic diet for the treatment of medical conditions, relevant biochemical analytes are routinely and regularly measured in venous or capillary blood…
- Trial name
- NCT07704606
- Testing
- Observational Study
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Children's Hospital, Zurich
Laxity; Skin
Safety and Efficacy of Matrix Pro for Eyebrow Lift and Lift of Submental/Neck Laxity
Prospective, non-randomized, multi-center, pivotal clinical trial
- Trial name
- NCT06640998
- Testing
- Matrix Pro
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Candela Corporation
Atopic Dermatitis
Safety and Tolerability of BSI-045B in Healthy Adult Subjects and Patients With Atopic Dermatitis
This randomized, double-blind, single center, placebo-controlled, phase 1 single ascending dose (SAD)/multiple ascending dose (MAD) study is designed to assess the safety, tolerability, PK, activity, immunogenicity, and PD of…
- Trial name
- NCT05114889
- Testing
- BSI-045B
- Where
- Australia
- Volunteers
- 54 people, healthy volunteers welcome
- Sponsor
- Biosion, Inc.
Congenital Hemolytic Anemia, Sickle Cell Disease
Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias
People with severe congenital anemias, such as sickle cell anemia and beta-thalassemia, have been cured with bone marrow transplantation (BMT).
- Trial name
- NCT00061568
- Testing
- Peripheral blood hematopoietic progenitor cell (PBPC) transplant, Alemtuzumab, Peripheral blood hematopoietic progenitor cell Apheresis
- Where
- United States
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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