Clinical trials: Multiple Anomalies
Neonatal Disorder
Design of a Non-invasive Multi-modal Neonatal Monitoring System
This is a preliminary study whose objectives are to define the clinical use cases and the constraints of the implementation of a multi-sensor image-sound system.
- Trial name
- VARI-NEONAT (NCT03270410)
- Testing
- Data collection
- Where
- France
- Volunteers
- 35 people
- Sponsor
- Rennes University Hospital
Marfan Syndrome
Children and Adolescents With Marfan Syndrome: 10,000 Healthy Steps and Beyond
Marfan patients are at risk of sudden death due to weakening of the wall of the large blood vessel leading from the heart (aorta).
- Trial name
- NCT03567460
- Testing
- Exercise
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Stanford University
Sickle Cell Anemia
Study of Efficacy, Safety and Tolerability of ACZ885 (Canakinumab) in Pediatric and Young Adult Patients With Sickle Cell Anemia
The study assesses the efficacy, safety and tolerability of ACZ885 (canakinumab) in pediatric and young adult patients with sickle cell anemia (SCA).
- Trial name
- NCT02961218
- Testing
- ACZ885
- Where
- 15 sites in United States, Canada and 5 more
- Volunteers
- 49 people
- Sponsor
- Novartis Pharmaceuticals
Prader-Willi Syndrome
Dose Clinical Trial of Guanfacine Extended Release for the Reduction of Aggression and Self-injuries Behavior Associated With Prader-Willi Syndrome
This is a placebo-controlled clinical trial to assess the utility of Guanfacine Extended Release (GXR) in the management of patients with Prader Willi Syndrome (PWS) who have significant aggression or self-injury.
- Trial name
- NCT04066088
- Testing
- Guanfacine extended release (GXR)
- Where
- United States
- Sponsor
- NYU Langone Health
Hemophilia A
A 48-Month Study to Evaluate Long-Term Effectiveness of Elocta on Joint Health
This is a 48-month observational, prospective, multicentre study. The overall aim of the study is to evaluate the long-term effectiveness of Elocta treatment on joint health in patients treated prophylactically with Elocta in a…
- Trial name
- A-MORE (NCT04293523)
- Testing
- ELOCTA
- Where
- 53 sites in Czechia, Estonia and 12 more
- Volunteers
- 427 people
- Sponsor
- Swedish Orphan Biovitrum
Hyper-IgM Syndrome, Ectodermal Dysplasia
Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States
This study investigates gene abnormalities in Primary Immune Deficiency(PID) with a goal of improving the diagnosis and treatment of patients. The specific disorders include: 1.
- Trial name
- NCT00266513
- Where
- United States
- Volunteers
- 119 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Velo-cardio-facial Syndrome, Psychosis
Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome
This is an exploratory clinical investigation. The objectives of this study are to evaluate the safety, steady-state pharmacokinetics, and efficacy of metyrosine (Demser®) for the treatment of psychosis in patients with…
- Trial name
- NCT01127503
- Testing
- Metyrosine
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Bausch Health Americas, Inc.
Dysarthria, Down Syndrome
Intensive Dysarthria Sessions in Adults and Children With Down Syndrome
This research study is designed to investigate the feasibility and treatment effects of a behavioral speech treatment in adults and children with Down Syndrome (DS) and dysarthria.
- Trial name
- NCT01684670
- Testing
- Speech sessions
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Duke University
Down Syndrome
Effect of the Sensory Integration Approach on Balance and Motor Coordination in Children With Down Syndrome
Down syndrome can be characterized by global mental and physical dysfunction or isolated gait, cognition, growth, or sensory disturbances.
- Trial name
- NCT05583565
- Testing
- sensory integration approach, traditional physical therapy program
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Cairo University
Down Syndrome
Proactive Speech and Language Intervention for Infants With Down Syndrome
Children with Down syndrome (DS) face life-long struggles with verbal communication. Babble and speech sound development is delayed, and speech can be difficult to understand.
- Trial name
- BBC-DS (NCT06450509)
- Testing
- Babble Boot Camp
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Arizona State University
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
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
Down Syndrome
Physiological Abnormalities Associated with Down Syndrome
The overall goal of this study is to evaluate biomarkers of oxidative stress, mitochondrial function, and DNA methylation (epigenetics) in order to determine the extent to which these biomarkers are related to cognitive…
- Trial name
- NCT03087500
- Testing
- There is no other intervention, only clinical treatment.
- Sponsor
- University of Arkansas
Biotinidase Deficiency
Study of ORL-1B in Patients With Biotinidase Deficiency
An Open-label, Single-arm, Phase 2 Study of Biotin in Patients With Biotinidase Deficiency.
- Trial name
- NCT03269045
- Testing
- ORL-1B
- Volunteers
- 20 people
- Sponsor
- Orpha Labs
Cystic Fibrosis
A Safety and Tolerability Study of Denufosol in 2-4 Year Olds
The purpose of this study is to evaluate the safety and tolerability of denufosol 60 mg TID in pediatric CF patients 2 to 4 years of age
- Trial name
- REACH-1 (NCT01181622)
- Testing
- denufosol tetrasodium Inhalation Solution, 0.9% w/v sodium chloride solution
- Volunteers
- 25 people
- Sponsor
- Merck Sharp & Dohme LLC
Loeys-Dietz Syndrome
Immunopathology of Loeys-Dietz Syndrome
Loeys-Dietz syndrome (LDS) is a rare vascular genetic disorder (estimated prevalence 1/25,000-1/100,000) due primarily to mutations in the Transforming growth factor beta (TGF-β) cytokine receptor 1 and 2 genes.
- Trial name
- I-LoDiS (NCT05472519)
- Testing
- blood samples
- Where
- France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Stuttering, Down Syndrome
How Stuttering and Gestures Influence the Intelligibility of Individuals With Down Syndrome
This study wants to determine the relationship between spontaneous hand gestures, stuttering and intelligibility in individuals with Down syndrome. One third of these individuals has fluency problems, such as stuttering.
- Conditions
- Stuttering, Down Syndrome, Intelligibility, Speech, Gestures
- Trial name
- NCT03698539
- Testing
- hand gestures
- Where
- Belgium
- Volunteers
- 60 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Beta-thalassemia Major, Hemosiderosis
Extension Study of the Efficacy and Safety of Deferasirox Treatment in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2-year Duration)
To allow patients treated with deferasirox in the core study to continue iron chelation therapy for 2 years or until the drug became locally commercially available.
- Conditions
- Beta-thalassemia Major, Hemosiderosis, Iron Overload, Rare Anemia
- Trial name
- ESCALATOR (NCT00171301)
- Testing
- Deferasirox
- Where
- 5 sites in Egypt, Lebanon and 3 more
- Volunteers
- 233 people
- Sponsor
- Novartis Pharmaceuticals
Osteogenesis Imperfecta (OI)
A Dose REgimen-Finding Study of AGA2115 in Chinese Patients With Osteogenesis ImpeRfecta (EIR)
This study is to evaluate the safety and efficacy of AGA2115 at three different dose regimens in Chinese adults and adolescents with Type I, III, or IV Osteogenesis imperfecta (OI).
- Trial name
- EIR (NCT07557446)
- Testing
- AGA2115
- Where
- 5 sites in China
- Volunteers
- 48 people
- Sponsor
- Angitia Biopharmaceuticals Guangzhou Limited
Primary Ciliary Dyskinesia, Healthy
Examining Bronchial Hyperresponsiveness in Primary Ciliary Dyskinesia
The purpose of this study is to look at children with PCD and see if they have another condition called "bronchial hyperresponsiveness".
- Trial name
- BHR (NCT07288827)
- Testing
- Lung Function Testing, Phlebotomy, Allergy skin prick testing
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Indiana University
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