Clinical trials: Genetics
Cystic Fibrosis
Registry Study on Cystic Fibrosis in Chinese Children
This study is a multicenter, prospective cohort study of patients diagnosed with cystic fibrosis, the clinical information of recruited patients, including clinical manifestations, lung function, chest imaging, quality of life…
- Trial name
- NCT02753374
- Volunteers
- 100 people
- Sponsor
- Beijing Children's Hospital
Familial Hypercholesterolemia
Effect of Rapeseed Oil and Sunflower Oil
Familial hypercholesterolemia (FH), an inherited disorder of lipoprotein metabolism, is a risk for early cardiovascular disease (CVD).
- Trial name
- NCT00924274
- Testing
- rapeseed oil, sunflower oil
- Where
- Austria
- Volunteers
- 24 people
- Sponsor
- Medical University of Vienna
Neoplastic Syndromes, Hereditary, Urologic Neoplasms
Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples
Investigation of the causes of genetic defects relating to hereditary urologic malignancies will be undertaken. These rare disorders result from inherited or newly arising mutations in genes involved in the development and…
- Trial name
- NCT00001814
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Tourette Syndrome, Chronic Tic Disorder
VoIP Delivered Behavior Therapy for Tourette Syndrome
The purpose of this research is to examine the preliminary efficacy, feasibility, and acceptability of Voice over Internet Protocol delivered behavior therapy for Tourette Syndrome through in a randomized waitlist-controlled…
- Trial name
- NCT02247206
- Testing
- Behavior Therapy for Tics (CBIT)
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Wisconsin, Milwaukee
Friedreich's Ataxia
Cardiac Output and Fatigue in Friedreich's Ataxia
This is a clinical trial examining to impact of aerobic training plus omaveloxolone in FRDA. Thirty individuals with FRDA will be recruited; 20 individuals will be on omaveloxolone treatment whereas the other ten individuals will…
- Trial name
- NCT07444333
- Testing
- Aerobic Exercise
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Scott Barbuto
Cystic Fibrosis
Streamlined Treatment of Pulmonary Exacerbations in Pediatrics
The STOP PEDS RCT is a multicenter, parallel, open label randomized controlled trial evaluating the long-term (one year) and short-term safety and efficacy of two antibiotic treatment strategies for the management of outpatient…
- Trial name
- STOP PEDS RCT (NCT06654752)
- Testing
- Immediate Oral Antibiotics, Tailored Treatment: Oral Antibiotics only if Additional Treatment needed
- Where
- 33 sites in United States, Canada
- Volunteers
- 430 people
- Sponsor
- University of Washington, the Collaborative Health Studies Coordinating Center
Down Syndrome
Physical Fitness in DS: A Comparison of Cuevas Medak and Rebound Exercises
This randomized clinical trial investigates the comparative effects of Cuevas Medak Exercises Vs Rebound Exercises on physical fitness in DS.
- Trial name
- DownSyndrome (NCT07248449)
- Testing
- Cuevas Medak Exercises
- Where
- Pakistan
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Recessive Dystrophic Epidermolysis Bullosa
Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients
Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable, devastating, inherited skin disease for which there is only supportive care.
- Trial name
- NCT02698735
- Testing
- Gentamicin
- Volunteers
- 5 people
- Sponsor
- University of Southern California
Hypophosphatasia
Natural History Study of Patients With Hypophosphatasia (HPP)
Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by defective bone and teeth mineralization caused by mutations of the ALPL gene, which encodes for the tissue-nonspecific alkaline phosphatase (TNSALP)…
- Trial name
- NatHisHPP (NCT02237625)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Niemann-Pick Disease Type C, GM2 Gangliosidosis
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
This is an open-label extension trial to evaluate the long-term safety and tolerability of nizubaglustat (AZ-3102) in participants with rare lysosomal disorders who have participated in a previous nizubaglustat trial and wish to…
- Conditions
- Niemann-Pick Disease Type C, GM2 Gangliosidosis, GM1 Gangliosidosis, Gaucher Disease Type 3
- Trial name
- HARBOR (NCT07885917)
- Testing
- AZ-3102
- Volunteers
- 218 people
- Sponsor
- Azafaros B.V.
Asthma in Children, Genetic Disease
Association Between Genetic Polymorphisms and Type 2 Asthma in Children
To further understand the role of gene single nucleotide polymorphism (SNP) in the occurrence of type 2 inflammation-related asthma in children by analyzing the gene single nucleotide polymorphism (SNP), lung function and type 2…
- Conditions
- Asthma in Children, Genetic Disease, Inflammation
- Trial name
- SNP (NCT06840717)
- Where
- China
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Guangzhou Institute of Respiratory Disease
Spinal Muscular Atrophy
Outpatient Rehabilitation Intervention for Young Children With SMA
An outpatient rehabilitation program for children (6 months to less than 6 years old) with Spinal Muscular Atrophy (SMA) treated with genetic based therapies is being studied.
- Trial name
- NCT05638750
- Testing
- Rehabilitation Intervention
- Where
- Canada
- Volunteers
- 10 people
- Sponsor
- Holland Bloorview Kids Rehabilitation Hospital
Atopic Dermatitis
Correlation Study Between PEST and SCORAD in Management of Atopic Dermatitis With Ceradan® Regimen
This is a prospective, open label, single arm, and observational and multicenter study to assess the correlation between PEST and SCORAD scores in the management of AD with the Ceradan® regimen.
- Trial name
- COPES (NCT02073591)
- Testing
- Ceradan Cream, Ceradan Wash
- Where
- 2 sites in Singapore
- Volunteers
- 58 people
- Sponsor
- Hyphens Pharma Pte Ltd
Giant Axonal Neuropathy (GAN)
Intraneural Administration of scAAV9/JeT-GAN Into the Vagus Nerve for Patients With Giant Axonal Neuropathy (GAN)
Giant axonal neuropathy (GAN) is a rare pediatric disorder caused by autosomal recessive mutations in the GAN gene. GAN is a multisystem, neurodegenerative disorder affecting the peripheral nervous system (PNS), central nervous…
- Trial name
- NCT07543991
- Testing
- scAAV9/JeT-GAN
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- University of Texas Southwestern Medical Center
Childhood Acute Lymphoblastic Leukemia, Childhood Rhabdomyosarcoma
Evaluating Dactinomycin and Vincristine in Young Patients With Cancer
This laboratory study is evaluating how well dactinomycin and vincristine work in treating young patients with cancer. Studying samples of blood and urine in the laboratory from patients with cancer may help doctors learn how…
- Conditions
- Childhood Acute Lymphoblastic Leukemia, Childhood Rhabdomyosarcoma, Childhood Soft Tissue Sarcoma, Ewing Sarcoma
- Trial name
- NCT00674193
- Testing
- pharmacological study, laboratory biomarker analysis
- Where
- 38 sites in United States, Australia and 1 more
- Volunteers
- 158 people
- Sponsor
- Children's Oncology Group
Rett Syndrome
Osteopathic Manipulative Treatment for Constipation in People With Rett Syndrome
Constipation consists of bowel symptoms characterized by difficulty or infrequency passage of stool, stiff stool, or a feeling of incomplete evacuation. However, its impact goes far beyond this definition.
- Trial name
- NCT05687214
- Testing
- Osteopathic manipulative treatment
- Where
- Italy
- Volunteers
- 12 people
- Sponsor
- Ariel University
Obesity, Genetic Disorder
Brain-Derived Neurotrophic Factor in Obesity and Brain Function
Background: Prader-Willi syndrome (PWS) and MC4R genetic mutations are two conditions that can cause problems with appetite regulation. People with PWS often have behavior and thinking problems.
- Conditions
- Obesity, Genetic Disorder, Mental Retardation, Developmental Delay
- Trial name
- NCT01517048
- Where
- 2 sites in United States, Canada
- Volunteers
- 93 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Transfusion-dependent Hemachromatosis, Thalassemia Major
Pilot Study for Patients With Poor Response to Deferasirox
This purpose of this study is to understand the differences between people who have a good response to deferasirox (exjade) compared to people who have a poor response to this medication when used for transfusion-dependent iron…
- Conditions
- Transfusion-dependent Hemachromatosis, Thalassemia Major, Sickle Cell Disease
- Trial name
- NCT00749515
- Testing
- Deferoxamine, Deferasirox, HIDA
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Boston Children's Hospital
Atopic Dermatitis
Multiple-Dose Pharmacokinetics and Potential for Adrenal Suppression Following Treatment With Halobetasol Spray in Patients With Atopic Dermatitis
This is an open-label, safety study designed to assess the multiple-dose pharmacokinetics and potential for adrenal suppression following topical treatment with halobetasol propionate 0.05% spray applied twice-daily in adult…
- Trial name
- NCT03245385
- Testing
- Treatment with Halobetasol propionate 0.05% topical spray
- Where
- 13 sites in United States
- Volunteers
- 20 people
- Sponsor
- Sun Pharmaceutical Industries Limited
Beta-Thalassemia
A Clinical Study Evaluating the Safety and Efficacy of CS-101 in Treating Subjects With β-thalassemia
The goal of this open label, single-arm clinical study is to learn about the safety and efficacy of CS-101 in treating β-thalassemia.
- Trial name
- NCT06024876
- Testing
- CS-101
- Where
- China
- Volunteers
- 5 people
- Sponsor
- CorrectSequence Therapeutics Co., Ltd
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