Clinical trials: Congenital Diseases
Intellectual Disability, Multiple Congenital Anomaly
Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and…
- Conditions
- Intellectual Disability, Multiple Congenital Anomaly, Rare Diseases
- Trial name
- NCT03424772
- Testing
- Whole genome sequencing
- Where
- 14 sites in China
- Volunteers
- 100 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Atopic Dermatitis
Evaluating the Effects of Tradipitant vs. Placebo in Atopic Dermatitis (EPIONE2)
This is a multicenter, randomized, double-blind, placebo-controlled study to be conducted in the United States in subjects with atopic dermatitis.
- Trial name
- NCT04140695
- Testing
- Tradipitant
- Where
- 51 sites in United States
- Volunteers
- 87 people
- Sponsor
- Vanda Pharmaceuticals
Duchenne Muscular Dystrophy (DMD)
A Phase 2 Trial to Investigate the Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Tegacorat in Male Participants 4 to <7 Years of Age With Duchenne Muscular Dystrophy
This Phase 2 clinical trial will evaluate the efficacy, safety, tolerability, pharmacokinetics, and pharmacodynamics of tegacorat oral solution in male participants 4 to less than 7 years of age with Duchenne muscular dystrophy…
- Trial name
- NCT07911995
- Testing
- Tegacorat
- Volunteers
- 36 people
- Sponsor
- Grünenthal GmbH
Cystic Fibrosis
A Phase 1 Relative Bioavailability Study of a VX-581 Tablet Formulation
The purpose of this study is to evaluate the relative bioavailability of VX-581 tablet formulation compared to a suspension formulation along with its safety and tolerability.
- Trial name
- NCT07813039
- Testing
- VX-581
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Vertex Pharmaceuticals Incorporated
Pyruvate Dehydrogenase Complex Deficiency Disease
Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI)
This is a phase II, multicenter, prospective, non-comparative clinical trial to assess the efficacy and safety of the treatment of pyruvate dehydrogenase deficiency (PDH) patients with glycerol phenylbutyrate (Ravicti®).
- Trial name
- PDH-RAVICTI (NCT06887777)
- Testing
- Glycerol Phenylbutyrate 1100 MG/ML [Ravicti]
- Where
- France
- Volunteers
- 15 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Marfan Syndrome, Marfan's Syndrome With Cardiovascular Manifestations
Transcriptomic Study of Adult Population With Marfan Syndrome
This project is designed to discover circulating biomarkers for aortic aneurysms in adults affected by Marfan Syndrome (MFS). The first aim is to identify circulating transcripts, protein-coding (mRNA) and not (ncRNAs), which…
- Trial name
- MaRfaNomicA (NCT05700175)
- Testing
- Transcriptomic, epigenetic and proteomic analysis
- Where
- Italy
- Volunteers
- 99 people
- Sponsor
- IRCCS Policlinico S. Donato
Congenital Heart Disease (CHD)
Transition and Transfer of Congenital Heart Disease Care From Pediatrics to Adulthood
Adults with congenital heart disease (CHD) are a growing patient population in need of ongoing specialized care. Lapses in appropriate transition and transfer processes from childhood to adulthood in CHD care can lead to loss in…
- Trial name
- NCT07585175
- Testing
- Multi-pronged transfer program
- Where
- Canada
- Volunteers
- 200 people
- Sponsor
- Ottawa Heart Institute Research Corporation
Noonan Syndrome
Neuroradiological Features of Noonan Syndrome and Genotype-Phenotype Correlations
Retrospective and prospective collection of brain and spinal MRI and MR angiography images from patients of all ages with a genetically confirmed diagnosis of Noonan syndrome.
- Trial name
- NCT07881081
- Testing
- Brain MRI and MR angiography (MRA)
- Where
- 10 sites in Italy
- Volunteers
- 60 people
- Sponsor
- Istituto Giannina Gaslini
Gaucher Disease
Auto-antibodies Prevalence and CD1 Role in Gaucher Disease
Hypergammaglobulinaemia is frequently observed in type 1 Gaucher disease (GD1), being either polyclonal or monoclonal gammopathies. Polyclonal hypergammaglobulinemia may be related to the presence of autoantibodies.
- Trial name
- NCT02650219
- Testing
- genetic analyses
- Where
- 11 sites in France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Hospital St. Joseph, Marseille, France
Gastrointestinal Symptoms in Young Infants
Milk-induced Gastrointestinal Symptoms in Infants
Various digestive manifestations are common in infants less than 6 months and have a significant impact on morbidity and quality of life of the family.
- Trial name
- NCT01684319
- Testing
- Formula milk free of cow's milk protein
- Where
- Switzerland
- Volunteers
- 120 people
- Sponsor
- University Hospital, Geneva
Patent Ductus Arteriosus
Brain, Gut and Kidney Blood Flow During Medical Closure of PDA
The purpose of this study is to determine how the medications which are used to close the patent ductus arteriosus (PDA) in preterm infants affect brain, kidney and gut blood flow when compared to infants that are not treated…
- Trial name
- NCT00554307
- Testing
- INVOS Cerebral/Somatic oximeter
- Where
- United States
- Sponsor
- University of Louisville
Atopic Dermatitis, Atopic Hand Eczema
A 32-week Trial to Evaluate the Efficacy and Safety of Tralokinumab in Subjects With Moderate-to-severe Atopic Hand Eczema Who Are Candidates for Systemic Therapy
The purpose of this study is to test if treatment with tralokinumab is safe and efficacious in treating moderate-to-severe atopic hand eczema.
- Trial name
- ADHAND (NCT05958407)
- Testing
- Tralokinumab
- Where
- 69 sites in United States, Belgium and 8 more
- Volunteers
- 235 people
- Sponsor
- LEO Pharma
Hepatitis C Virus Infection
Ledipasvir/Sofosbuvir Fixed-Dose Combination for 12 or 24 Weeks in Genotype 1 or 4 HCV Infected Adults With Sickle Cell Disease
The primary objectives of this study are to evaluate the antiviral efficacy, safety, and tolerability of ledipasvir/sofosbuvir (LDV/SOF) fixed-dose combination (FDC) administered for 12 or 24 weeks in adults with genotype 1 or 4…
- Trial name
- NCT02301936
- Testing
- LDV/SOF
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Gilead Sciences
Incomplete Spinal Cord Injury, Spasticity, Muscle
Activating Spinal Circuits to Improve Walking, Balance, Strength, and Reduce Spasticity
For many people with spinal cord injury (SCI), the goal of walking is a high priority. There are many approaches available to restore walking function after SCI; however, these approaches often involve extensive rehabilitation…
- Trial name
- NCT05429736
- Testing
- Motor Skill Training (MST), Transcutaneous Spinal Stimulation (TSS)
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Shepherd Center, Atlanta GA
Fabry Disease, Left Ventricular Hypertrophy
Viennese Prevalence Study of Anderson-Fabry Disease
The prevalence of Anderson - Fabry disease in patients with left ventricular hypertrophy is unclear. The investigators will examine urine - α - Galactosidase activity and globotriaosylceramide isoforms in these patients.
- Trial name
- VIEPAF (NCT00871611)
- Where
- Austria
- Volunteers
- 4,000 people
- Sponsor
- Medical University of Vienna
Healthy, Chronic Rhinosinusitis With Nasal Polyps
Study Of PF-06817024 In Healthy Subjects, In Patients With Chronic Rhinosinusitis With Nasal Polyps And in Patients With Atopic Dermatitis
The purpose of this study is to evaluate safety, tolerability, pharmacokinetics, and pharmacodynamics of PF-06817024 in healthy volunteers, in participants with chronic rhinosinusitis, with nasal polyps and in participants with…
- Conditions
- Healthy, Chronic Rhinosinusitis With Nasal Polyps, Atopic Dermatitis
- Trial name
- NCT02743871
- Testing
- PF-06817024
- Where
- 20 sites in United States
- Volunteers
- 97 people, healthy volunteers welcome
- Sponsor
- Pfizer
Leukemia
A Phase II Open-Label Study of High-Dose Cytarabine and Clofarabine in Adult Patients With Refractory or Relapsed Acute Myelogenous Leukemia or Refractory or Relapsed Acute Lymphoblastic Leukemia
RATIONALE: Drugs used in chemotherapy, such as cytarabine and clofarabine, work in different ways to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing.
- Trial name
- NCT01656031
- Testing
- clofarabine, cytarabine
- Where
- United States
- Volunteers
- 39 people
- Sponsor
- Wake Forest University Health Sciences
Tourette Syndrome, Tic Disorders
Study of Tics in Patients With Tourette's Syndrome and Chronic Motor Tic Disorder
This study will investigate which areas of the brain are primarily involved in and responsible for tics in patients with Tourette's syndrome and chronic motor disorder.
- Trial name
- NCT00033995
- Where
- United States
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II)
Late-Onset Treatment Study Extension Protocol
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II), Glycogenesis Type II, Acid Maltase Deficiency (AMD)
- Trial name
- NCT00455195
- Testing
- alglucosidase alfa
- Where
- 31 sites in United States, Australia and 3 more
- Volunteers
- 81 people
- Sponsor
- Genzyme, a Sanofi Company
Flatfeet
Arthroereisis Versus Lateral Column Lengthening in the Treatment of Planovalgus Feet
There is no consensus on the surgical treatment of unremitting, painful flatfeet in children. Subtalar arthroereisis has gained notoriety although there is a paucity of literature on its biomechanical effects.
- Trial name
- NCT02055495
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- University of Utah
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