Clinical trials: Genetics
Cardiovascular Diseases, Coronary Disease
Genetics of Atherosclerosis in Mexican Americans
To identify individual genes that contribute to variation in susceptibility to coronary heart disease (CHD) in Mexican Americans.
- Conditions
- Cardiovascular Diseases, Coronary Disease, Obesity, Atherosclerosis
- Trial name
- NCT00005462
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Retinitis Pigmentosa, Inherited Ophthalmic Diseases
Repository for Inherited Eye Diseases
The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE(R)) is a genomic medicine initiative created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), in partnership with…
- Trial name
- NCT00378742
- Where
- United States
- Volunteers
- 6,618 people
- Sponsor
- National Eye Institute (NEI)
Duchenne Muscular Dystrophy (DMD)
An Open-Label Extension Study to Evaluate the Long-term Safety and Efficacy of BMN 351 in Participants With Duchenne Muscular Dystrophy
This open-label extension study aims to evaluate the long-term safety and tolerability of weekly BMN 351 infusions, as well as to assess the effect of BMN 351 on physical function, in participants with DMD who participated in the…
- Trial name
- NCT07573631
- Testing
- BMN 351
- Where
- 6 sites in Italy, Netherlands and 3 more
- Volunteers
- 18 people
- Sponsor
- BioMarin Pharmaceutical
PHACE Syndrome
PHACE - Prospective Genetic Investigation
Investigation for potential PHACE syndrome gene.
- Trial name
- PHACE (NCT05133245)
- Testing
- Diagnostic study only
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Vanderbilt University Medical Center
Mucopolysaccharidoses
Evaluation of Cardiac Affections in Patients With Mucopolysaccharidosis (MPS) in Assuit University Children Hospital (AUCH)
This study aims to evaluate the different cardiac changes in the various types of MPS disorder and define the outcome of these cardiac abnormalities in those patients admitted to assuit University Children Hospital
- Trial name
- MPS (NCT04637646)
- Volunteers
- 25 people
- Sponsor
- Assiut University
Von Hippel Lindau Disease, Kidney Neoplasms
Von Hippel-Lindau Disease Genetic Epidemiology Study
The Von Hippel-Lindau (VHL) Disease Genetic Epidemiology Study is a family-based case-control study to be conducted by the National Cancer Institute.
- Trial name
- NCT00001803
- Where
- United States
- Volunteers
- 546 people
- Sponsor
- National Cancer Institute (NCI)
Dermatitis, Contact, Dermatitis
Post-Marketing Clinical Follow-Up Trial to Evaluate the Performance and Safety of the Medical Device 047 TD Dermatitis Cream in Adults and Children With Atopic and Contact Dermatitis Symptoms Confirmed by Clinical Parameters
The study aims to evaluate and confirm the performance of 047 TD Dermatitis cream in the improvement of eczematous dermatitis and contact dermatitis, throughout a reduction in disease severity and symptoms.
- Conditions
- Dermatitis, Contact, Dermatitis, Dermatitis, Chronic, Dermatitis, Eczematous
- Trial name
- NCT07056569
- Testing
- 047_TD Dermatitis cream twice a day for 28 days
- Where
- 3 sites in Italy
- Volunteers
- 90 people
- Sponsor
- Biokosmes Srl
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder
Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
This is a research protocol that will examine Hematopoietic Stem Cell Transplantation (HSCT) using a reduced conditioning regimen (RIC) with total body Irradiation (TBI) in those diagnosed with Common Variable Immunodeficiency…
- Conditions
- Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome
- Trial name
- CVID/PIRD (NCT07284641)
- Testing
- Hematopoietic stem cell transplant (HSCT)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Paul Szabolcs
Sleep Disorders
Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities
The purpose of this study is to establish the efficacy and safety of Circadin in children with neurodevelopmental disorders and to determine the dose, this randomized, placebo-controlled study is planned to evaluate the efficacy…
- Trial name
- NCT01906866
- Testing
- Circadin 2/5/10 mg
- Where
- 28 sites in United States, Finland and 3 more
- Volunteers
- 125 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
PKU, Phenylketonurias
Market Research - Acceptability Trial for a New PKU Amino Acid Based Protein Substitute
The aim of this study is to demonstrate that a new protein substitute is acceptable and well tolerated in children with PKU.
- Conditions
- PKU, Phenylketonurias, Inborn Errors of Metabolism, Metabolic Disease
- Trial name
- NCT04309331
- Testing
- Motion
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- Dr. Schär AG / SPA
Down Syndrome
Role of Sleep Apnea in the Neuropsychological Function in Down Syndrome People
This is the first study about Neuropsychological function and OSAS in Taiwan. Although the correlation between OSAS and neuropsychological abnormalities had been reported, it is worth to understand more about the detailed domains…
- Trial name
- NCT03267602
- Testing
- CPAP
- Volunteers
- 45 people
- Sponsor
- National Taiwan University Hospital
Diabetes Mellitus, Diabetes Mellitus, Type 1
Genetic Risk Score of Type 1 Diabetes Mellitus for Progression to Insulin in Diabetic Patients Lack of Predictive Value: a Multicenter Nested Case-control Study
The goal of this observational study is to evaluate the predictive value of the genetic risk score for type 1 diabetes in the progression to insulin deficiency in diabetic patients. The main question it aims to answer is: 1.
- Trial name
- NCT07621445
- Where
- China
- Volunteers
- 2,950 people
- Sponsor
- Second Xiangya Hospital of Central South University
Beta-Thalassemia
Study of Safety & PK of Luspatercept (ACE-536) in Pediatric Participants With Beta (β)-Thalassemia
This is a Phase 2a study to evaluate the safety and pharmacokinetics (PK) of luspatercept in pediatric participants with β-thalassemia.
- Trial name
- NCT04143724
- Testing
- ACE-536
- Where
- 26 sites in United States, China and 7 more
- Volunteers
- 99 people
- Sponsor
- Celgene
N-acetylglutamate Synthase (NAGS) Deficiency
Orphan Europe Carbaglu® Surveillance Protocol
The purpose of this study is to conduct post-marketing surveillance of carglumic acid (Carbaglu) to obtain long-term clinical safety information.
- Trial name
- NCT03409003
- Where
- 3 sites in United States
- Volunteers
- 30 people
- Sponsor
- Nicholas Ah Mew
Sickle Cell Disease, Pain
Preliminary Feasibility and Efficacy of Behavioral Intervention to Reduce Pain-Related Disability in Pediatric SCD
Pain is the primary complication of sickle cell disease (SCD), including vaso-occlusive crises and more persistent, chronic pain.
- Trial name
- NCT04388241
- Testing
- The Balance Program
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Children's National Research Institute
Li-Fraumeni Syndrome, TP53 Gene Mutation
Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress
The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g.
- Conditions
- Li-Fraumeni Syndrome, TP53 Gene Mutation, Hereditary Cancer Syndrome, Clonal Hematopoiesis
- Trial name
- LiFT_UP (NCT04541654)
- Testing
- Data and Specimen Collection
- Where
- 3 sites in United States
- Volunteers
- 1,500 people
- Sponsor
- Dana-Farber Cancer Institute
Acute Lymphoblastic Leukemia, Leukemia, Acute Myeloid (AML), Child
Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
This study will evaluate pediatric patients with malignant or non-malignant blood cell disorders who are having a blood stem cell transplant depleted of T cell receptor (TCR) alfa and beta cells that comes from a partially…
- Conditions
- Acute Lymphoblastic Leukemia, Leukemia, Acute Myeloid (AML), Child, Lymphoma, Non-Hodgkin, Myelodysplastic Syndrome
- Trial name
- NCT02065869
- Testing
- BPX-501 T cells, Rimiducid
- Where
- 4 sites in Italy, United Kingdom
- Volunteers
- 187 people
- Sponsor
- Bellicum Pharmaceuticals
Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorder
Clinical, Environmental, Neurocognitive, Brain Imaging, and Genetic Validity of Autism and ADHD
The behavioral patterns, neurocognitive and social impairments, and high heritability are the common characteristics of autism spectrum disorders (ASD) and attention-deficit hyperactivity disorder (ADHD), the two most common…
- Trial name
- NCT00916851
- Where
- Taiwan
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Epidermolysis Bullosa
Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis Bullosa
OBJECTIVES: I. Determine the safety of isotretinoin in patients with recessive dystrophic epidermolysis bullosa.
- Trial name
- NCT00014729
- Testing
- isotretinoin
- Volunteers
- 20 people
- Sponsor
- University of North Carolina
Dermatitis, Atopic
An Efficacy and Safety Study of Tacrolimus Ointment in Pediatric Participants With Atopic Dermatitis
The purpose of this study is to evaluate the safety and efficacy of tacrolimus ointment in treating the signs and symptoms of moderate (medium level of seriousness) to severe (very serious, life threatening) atopic dermatitis (an…
- Trial name
- NCT01782729
- Testing
- Tacrolimus
- Where
- Vietnam
- Volunteers
- 30 people
- Sponsor
- Janssen-Cilag Ltd.,Thailand
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