Clinical trials: Birth Defect
Achondroplasia
An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia
The intent and design of this Phase 3 study is to assess BMN 111 as a therapeutic option for the treatment of children with Achondroplasia
- Trial name
- NCT03424018
- Testing
- BMN 111
- Where
- 24 sites in United States, Australia and 5 more
- Volunteers
- 119 people
- Sponsor
- BioMarin Pharmaceutical
Microtia
Subcutaneous Implant Combination Product (AUR-201) in Patients With Unilateral Microtia
AUR-201 is indicated for the treatment of Grade II, III, or IV unilateral microtia in patients 8 to 29 years of age.
- Trial name
- AUR-201 (NCT06072040)
- Testing
- AUR-201
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Auregen Biotherapeutics, SA
Cleft Lip
Orbicularis Oris Z-plasty Modification of Modified Millard Technique and the Esthetic Outcome of Cleft Lip Repair
This study aimed to evaluate the effect of orbicularis oris muscle z-plasty modification of modified Millard technique on the esthetic outcome and length of the repaired lip
- Trial name
- NCT04627389
- Testing
- orbicularis oris muscle Z- plasty modification of modified millard technique, modified millard technique
- Where
- Egypt
- Volunteers
- 40 people
- Sponsor
- Fayoum University
Achondroplasia
Lifetime Impact of Achondroplasia Study in Europe-LIAISE
Observational study looking at the burden of illness in achondroplasia subjects aged 5-70. The study will include a 5 year review of historical clinical data as well as a single point collection of questionnaire data to look at…
- Trial name
- LIAISE (NCT03449368)
- Where
- 13 sites in Austria, Denmark and 4 more
- Volunteers
- 196 people
- Sponsor
- BioMarin Pharmaceutical
Fragile X Syndrome
Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.
- Trial name
- NCT01616589
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Esoterix Genetic Laboratories, LLC
Xeroderma Pigmentosum, Basal Cell Carcinoma
Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum
This study will determine if family members of patients with xeroderma pigmentosum (XP) have various abnormalities, including: skin abnormalities; nervous system abnormalities, such as hearing problems; skin, eye, or internal…
- Conditions
- Xeroderma Pigmentosum, Basal Cell Carcinoma, Squamous Cell Carcinoma, Melanoma
- Trial name
- NCT00046189
- Where
- United States
- Volunteers
- 301 people
- Sponsor
- National Cancer Institute (NCI)
Junctional Epidermolysis Bullosa
Optimizing IV Gentamicin in JEB
Herlitz junctional epidermolysis bullosa (H-JEB), an incurable and fatal inherited skin disease, is caused by loss-of-function mutations in LAMA3, LAMB3 and LAMC2.
- Trial name
- NCT04140786
- Testing
- Gentamicin Sulfate, Injectable
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Southern California
Bronchopulmonary Dysplasia (BPD), Premature Births
PK, Safety and Preliminary Efficacy Study of Montelukast in Critically Ill Infants With Developing Bronchopulmonary Dysplasia
The purpose of the study is to learn how safe montelukast may be in premature infants at significant risk for Bronchopulmonary Dysplasia (BPD) and to determine how much and how quickly montelukast moves from the stomach into the…
- Conditions
- Bronchopulmonary Dysplasia (BPD), Premature Births, Critical Illness
- Trial name
- PRISM (NCT07101640)
- Testing
- montelukast 4 mg granule
- Where
- 5 sites in United States
- Volunteers
- 28 people
- Sponsor
- Duke University
Inherited BMF Syndrome, Inherited Platelet Disorder
Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
This project seeks to perform whole genome sequence (WGS) and whole transcriptome sequence (WTS) analysis on 350 patients with suspected inherited bone marrow failure syndromes and related disorder (IBMFS-RD) in order to increase…
- Conditions
- Inherited BMF Syndrome, Inherited Platelet Disorder, Hematologic Diseases
- Trial name
- IBMDx (NCT05196789)
- Testing
- whole genome and transcriptome sequencing
- Where
- Australia
- Volunteers
- 350 people
- Sponsor
- Peter MacCallum Cancer Centre, Australia
Newborn Jaundice, Hyperbilirubinemia, Neonatal
White Cover and Massage Impact on Bilirubin Levels and Phototherapy Duration in Newborns
This study aimed to examine the effect of white cover and massage application on newborns' bilirubin level and duration of phototherapy in newborns receiving phototherapy.
- Conditions
- Newborn Jaundice, Hyperbilirubinemia, Neonatal, Newborn Massage, Phototerapy
- Trial name
- NCT06209489
- Testing
- White cover
- Where
- Turkey (Türkiye)
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Karabuk University
Marfan Syndrome
Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients
The major clinical problems in patients with Marfan Syndrome (MFS) are aortic root dilation (ARD), dissection and rupture. Although the available treatments (beta-blockers, BBs) improve the evolution of the disease, they do not…
- Trial name
- MaNeLo (NCT00683124)
- Testing
- Losartan and nebivolol, Losartan, Nebivolol
- Where
- Italy
- Volunteers
- 291 people
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
Hemophilia A, Anticoagulant Therapy
Home Monitoring in Hemophilia A
Rationale: A novel point-of-care device capable of measuring factor VIII (FVIII) activity and thrombin generation (TG) is currently under development.
- Conditions
- Hemophilia A, Anticoagulant Therapy, Monitoring, Point of Care Testing
- Trial name
- NCT06702579
- Where
- Netherlands
- Volunteers
- 19 people
- Sponsor
- Radboud University Medical Center
Mycoses
Itraconazole for the Prevention of Fungal Infections in Chronic Granulomatous Disease
This protocol describes a prospective, randomized study examining the safety and efficacy of Itraconazole for preventing fungal infections in patients with Chronic Granulomatous Disease (CGD).
- Trial name
- NCT00001280
- Testing
- itraconazole
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Congenital Heart Disease
Effectiveness of a Transition Program for Adolescents With Congenital Heart Disease in the Transition to Adulthood
This study is part of a larger research project known as Swedish Transition Effects Project Supporting Teenagers with chrONic mEdical conditionS (STEPSTONES).
- Trial name
- NCT02675361
- Testing
- Transition program
- Where
- 7 sites in Sweden
- Volunteers
- 189 people
- Sponsor
- Göteborg University
Neonatal Sepsis, Neonatal Infection
Infection, Sepsis and Meningitis in Surinamese Neonates
Suriname is a small developing country in South America with a population of half a million people. Early neonatal death in Suriname is high with 16 per 1000 live births.
- Conditions
- Neonatal Sepsis, Neonatal Infection, Neonatal Meningitis
- Trial name
- InSepSur (NCT02486783)
- Where
- Suriname
- Volunteers
- 190 people, healthy volunteers welcome
- Sponsor
- Academic Hospital Paramaribo
Bronchopulmonary Dysplasia
Safety and Efficacy of MSC-EVs in the Prevention of BPD in Extremely Preterm Infants
The phase 1/2 trial aims to evaluate the safety and efficacy of EXOB-001 consisting of extracellular vesicles derived from umbilical cord mesenchymal stromal cells in the prevention of bronchopulmonary dysplasia (BPD) in…
- Trial name
- EVENEW (NCT06279741)
- Testing
- Endotracheopulmonary Instillation, Suspension
- Where
- 8 sites in Belgium, Italy
- Volunteers
- 265 people
- Sponsor
- EXO Biologics S.A.
Fragile X Syndrome (FXS), Autism Spectrum Disorder
Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism…
- Trial name
- NCT06677866
- Testing
- Cognitive behavioral therapy, Waiting List
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Lafora Disease
Natural History and Functional Status Study of Patients With Lafora Disease
A natural history and functional status study to characterize the clinical disease course in Lafora disease patients using standardized, quantitative evaluations and to identify useful biomarkers and clinical outcome measures for…
- Trial name
- NCT03876522
- Where
- 4 sites in United States, Italy and 1 more
- Volunteers
- 33 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Tourette Syndrome, Chronic Tic Disorder
Anger Control Training for Youth With Tourette Syndrome
This is a clinical study of a cognitive-behavioral therapy known as anger control training in adolescents with Tourette Syndrome and explosive, disruptive behavior.
- Conditions
- Tourette Syndrome, Chronic Tic Disorder, Oppositional Defiant Disorder, ADHD
- Trial name
- NCT00486551
- Testing
- Anger control training
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- Yale University
Aortic Coarctation
Aortic Stiffness by CMR in Aortic Coarctation
This study investigates the correlation between medium-term systemic blood pressure control and aortic stiffness index in adults following coarctation stenting, using cardiac magnetic resonance (CMR) imaging.
- Trial name
- NCT06740461
- Volunteers
- 30 people
- Sponsor
- Assiut University
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