Clinical trials: Congenital Diseases
Hereditary Tyrosinemia, Type I
Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)
The purpose of this study is to determine whether Nitisinone 10 mg Tablets (Test Product 1) and Nitisinone 10 mg Tablets 'Baked' for 6 months @ 40°C/75% RH (Test Product 2) are bioequivalent to the reference product Orfadin 10 mg…
- Trial name
- NCT02750345
- Testing
- Nitisinone, Nitisinone Baked Tablet, Orfadin
- Where
- South Africa
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Cycle Pharmaceuticals Ltd.
Diagnosis of Coarctation of the Aorta and VSD, Surgical Repair at CHOA
Surgical Outcomes in Pediatric Patients With Coarctation and VSD
Recently, a paper was published that compared outcomes of patients requiring repair of aortic coarctation and ventricular septal defect.
- Conditions
- Diagnosis of Coarctation of the Aorta and VSD, Surgical Repair at CHOA, Between January 1, 2002 and December 31, 2005
- Trial name
- NCT00327795
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Children's Healthcare of Atlanta
Laryngomalacia, Sleep Apnea, Obstructive
Laryngomalacia, Examinations and Quality of Life in Children Before and After Treatment With Follow-up After 1 Year
Laryngomalacia is the most frequent cause of stridor in children under 1 year. The airway obstruction generates turbulent airway flow and creates the characteristic high-frequency stridor sound.
- Conditions
- Laryngomalacia, Sleep Apnea, Obstructive, Sleep Apnea, Ear, Nose and Throat Disorder
- Trial name
- NCT06464757
- Where
- 2 sites in Norway
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Oslo University Hospital
Alpha-Mannosidosis
Lamazym Aftercare Study FR Designed to Provide Treatment for French Patients
The overall objective of this trial is to provide aftercare treatment with Lamazym and to evaluate the safety of repeated Lamzede i.v. treatment of subjects with alpha-Mannosidosis.
- Trial name
- rhLAMAN-07 (NCT01908712)
- Testing
- Lamazym
- Where
- France
- Volunteers
- 13 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Fovea Plana, Albinism
Genetic Analysis and Multimodal Retinal Imaging of Asymptomatic Fovea Plana Cases in the General Population
Albinism is a genetic condition, resulting from mutations in at least 19 known genes responsible for the production of melanin in the skin, hair and eyes. Ophthalmological manifestations are a constant feature of this disease.
- Trial name
- APOGEE (NCT04658381)
- Testing
- Genetic analysis, Ophthalmologic exam
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Tourette Syndrome, Tic Disorder, Chronic Motor or Vocal
Open-label MNS for Tourette Syndrome
A recent report (Morera Maiquez et al 2020) described reduced tic severity in people with Tourette syndrome during 1-minute epochs of median nerve stimulation (MNS) at 10 Hz.
- Trial name
- NCT05016765
- Testing
- Active, self-directed electrical stimulation of the median nerve
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Washington University School of Medicine
Congenital Heart Disease
Cardiac Troponin T After Transcatheter Closure of the Interatrial Septum
To examine retrospectively whether transcatheter closure of the interatrial septum leads to myocardial injury and to determine the mechanism.
- Trial name
- NCT03099967
- Testing
- Transcatheter closure of an atrial septal defect or patent foramen ovale.
- Volunteers
- 51 people
- Sponsor
- Skane University Hospital
Apnea of Prematurity, Infant, Premature, Diseases
Effect of High Frequency Oscillatory Highflow Nasal Cannula on Desaturations and Bradycardia in Preterm Infants
This study evaluates the effect of non-invasive high frequency oscillations applied via a highflow nasal cannula ('Osciflow') compared to highflow nasal cannula without oscillations (HF) on desaturations and bradycardia in…
- Trial name
- Osciflow (NCT04327466)
- Testing
- Osciflow, Highflow
- Where
- Switzerland
- Volunteers
- 30 people
- Sponsor
- University of Zurich
Neurogenic Bladder Disorder, Bladder Dysfunction
Urinary Artificial Sphincter in Children
Retrospective monocentric study of the outcomes of patients with neurogenic bladder who had a urinary artificial sphincter before the age of 18 years old.
- Conditions
- Neurogenic Bladder Disorder, Bladder Dysfunction, Spina Bifida, Urinary Incontinence Due to Urethral Sphincter Incompetence
- Trial name
- SUAPED (NCT06734429)
- Testing
- Urinary Artificial Sphincter
- Where
- France
- Volunteers
- 15 people
- Sponsor
- University Hospital, Clermont-Ferrand
Sickle Cell Disease, Asthma
Inhaled Corticosteroid Use to Prevent Acute Chest Syndrome Recurrence in Children Between 1 and 4 With Sickle Cell Disease: a Feasibility Trial
Acute and chronic pulmonary complications with concomitant inflammatory response are a leading cause of morbidity and mortality in children with sickle cell disease (SCD).
- Conditions
- Sickle Cell Disease, Asthma, Acute Chest Syndrome
- Trial name
- NCT02187445
- Testing
- Budesonide inhalation suspension
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- Vanderbilt University
Sickle Cell Disease, Vaso-Occlusive Crisis
Adjuvant Low-dose Ketamine in Pediatric Sickle Cell Vaso-occlusive Crisis
Acute vaso-occlusive episodes (VOEs) in sickle cell disease (SCD) are primarily managed with opioids. Tolerance and hyperalgesia to opioids develops due to N-methyl-D-aspartate (NMDA)-receptor mediated activation of the…
- Trial name
- AKTSS (NCT03296345)
- Testing
- Ketamine
- Where
- United States
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Down Syndrome
Fluor Varnish With Silver Nanoparticles for Dental Remineralization in Patients With Trisomy 21
Patients with trisomy 21 are in greater danger of developing caries. It has been hypothesized that adding silver nanoparticles to fluor varnishes could promote remineralization of the teeth.
- Trial name
- NCT01975545
- Testing
- Fluor varnish, Fluor varnish with nanoparticles
- Where
- Mexico
- Volunteers
- 20 people
- Sponsor
- Universidad Autonoma de San Luis Potosí
Cystic Fibrosis, Cystic Fibrosis-related Diabetes
The Effects of a Low Glycemic Load Diet on Dysglycemia and Body Composition in Adults With Cystic Fibrosis-Related Diabetes
This study will evalute the effect of a low glycemic load (LGL diet on dysglycemia, insulin requirements, DXA-derived body composition, gastrointestinal symptoms and quality of life measures in adults with cystic fibrosis-related…
- Conditions
- Cystic Fibrosis, Cystic Fibrosis-related Diabetes, Cystic Fibrosis With Intestinal Manifestations
- Trial name
- DINE (NCT05723445)
- Testing
- Low Glycemic Load Diet
- Where
- 2 sites in United States
- Volunteers
- 15 people
- Sponsor
- Rhode Island Hospital
Liver Diseases, Primary Biliary Cirrhosis
Repeatability and Reproducibility of Multiparametric MRI
This study aims to prospectively assess the repeatability and reproducibility of iron-corrected T1 (cT1), T2*, and hepatic proton density fat fraction (PDFF) quantification with multiparametric MRI using the LiverMultiScan™ (LMS…
- Conditions
- Liver Diseases, Primary Biliary Cirrhosis, Non-Alcoholic Fatty Liver Disease, Non-Alcoholic Steatohepatitis
- Trial name
- NCT03743272
- Testing
- LiverMultiScan
- Where
- 4 sites in Netherlands, United Kingdom
- Volunteers
- 61 people, healthy volunteers welcome
- Sponsor
- Perspectum
Down Syndrome
Action Observation Therapy on Balance in Children With Down Syndrome
Down syndrome is a condition in which a child is born with an extra copy of their 21st chromosome hence its other name is trisomy 21.
- Trial name
- NCT06198075
- Testing
- Control Group, Experimental Group
- Where
- Pakistan
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Congenital Myotonic Dystrophy
Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy
This is a randomized, multicenter, double-blind, placebo-controlled, Phase 2/3 study of patients (aged 6 to 16 years) diagnosed with Congenital Myotonic Dystrophy (Congenital DM1).
- Trial name
- NCT03692312
- Testing
- Tideglusib
- Where
- 14 sites in United States, Australia and 3 more
- Volunteers
- 56 people
- Sponsor
- AMO Pharma Limited
Sickle Cell Disease
Gene Therapy Communication: Use of a Needs Assessment to Drive Decision-AIDS for Gene Therapy for Rare Diseases (GENETX)
This prospective mixed-method interview study aims to qualitatively describe the beliefs, attitudes, and informational needs around gene therapy for rare pediatric diseases among patients and parents of children with a rare…
- Trial name
- NCT05810181
- Testing
- Interview
- Where
- United States
- Volunteers
- 145 people, healthy volunteers welcome
- Sponsor
- St. Jude Children's Research Hospital
Healthy Volunteers
A Study to Determine the Relative Bioavailability of Capsule and Tablet Formulations of GDC-0941 and the Effect of Food and Proton Pump Inhibition on GDC-0941 Tablet Pharmacokinetics in Healthy Volunteers
This is a Phase I, randomized, two-part, single-center pharmacokinetics (PK) study to assess the relative bioavailability of capsule and tablet formulations of GDC-0941 in the fasted state (Part 1) and to determine the effect of…
- Trial name
- NCT00999128
- Testing
- GDC-0941, rabeprazole
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Genentech, Inc.
Prosthetic Treatment, Craniofacial Abnormalities
Digital Design for Maxillofacial Prosthetics
This study will use a 3D scanner to print a 3D model or mold for each patient's prosthesis. The goal of this study to provide patients with a new, faster method of imaging and creating prostheses that preserves the quality of the…
- Conditions
- Prosthetic Treatment, Craniofacial Abnormalities, Maxillofacial Abnormalities
- Trial name
- NCT04035928
- Testing
- 3D digital scanning for maxillofacial prosthetics
- Where
- United States
- Sponsor
- University of Michigan
Friedreich's Ataxia
Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia
The primary purpose of the study is to determine whether carbamylated erythropoietin is a safe treatment for patients who suffer from Friedreich's Ataxia.
- Trial name
- NCT01016366
- Testing
- Lu AA24493
- Where
- 7 sites in Austria, Germany and 1 more
- Volunteers
- 36 people
- Sponsor
- H. Lundbeck A/S
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