Clinical trials: Multiple Congenital Anomaly
MDC1A, SELENON-related Myopathy
The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2
SEPN1 (SELENON) is a rare congenital myopathy due to mutations in the SELENON gene. MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene.
- Trial name
- NCT04478981
- Testing
- No intervention
- Where
- Netherlands
- Volunteers
- 38 people
- Sponsor
- Radboud University Medical Center
Severe Bronchopulmonary Dysplasia
PNEUMOSTEM for the Prevention and Treatment of Severe BPD in Premature Infants
This study is to evaluate the efficacy and safety of PNEUMOSTEM® for the Prevention and Treatment of Severe Bronchopulmonary Dysplasia (Severe BPD) in Premature Infants.
- Trial name
- NCT03392467
- Testing
- PNEUMOSTEM
- Where
- 2 sites in South Korea
- Volunteers
- 60 people
- Sponsor
- Medipost Co Ltd.
Cystic Fibrosis
Clinical Study to Investigate Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of POL6014 in Patients With CF
"This is a randomised, double-blind, placebo-controlled multi-centre study to investigate safety and tolerability and to provide pharmacokinetic and pharmacodynamics information of orally inhaled multiple doses (80 mg, 160 mg or…
- Trial name
- NCT03748199
- Testing
- POL6014
- Where
- 4 sites in Germany
- Volunteers
- 32 people
- Sponsor
- Santhera Pharmaceuticals
Respiratory Tract Diseases, Abnormal Mucus Secretions
A Clinical Trial to Compare the Efficacy and Safety of 1-week Treatment of Intravenous N-acetylcysteine (NAC) 600 mg Twice Daily, Ambroxol Hydrochloride 30 mg Twice Daily and Placebo as Expectorant Therapies in Adult Chinese Patients With Respiratory Tract Diseases and Abnormal Mucus Secretions
This is a phase 3, multicenter, randomized, rater- and patient-blind, placebo- and active-controlled, 3-arm parallel group clinical trial.
- Trial name
- NCT03843541
- Testing
- N-acetylcysteine (NAC) 600 mg, Ambroxol hydrochloride 30 mg
- Where
- 32 sites in China
- Volunteers
- 333 people
- Sponsor
- Zambon SpA
Sickle Cell Disease
PK Study of Ticagrelor in Children Aged Less Than 24 Months, With Sickle Cell Disease (HESTIA4)
The purpose of this Phase I study is to investigate the pharmacokinetic properties of ticagrelor in pediatric patients from 0 to less than 24 months with sickle cell disease.
- Trial name
- HESTIA4 (NCT03492931)
- Testing
- Ticagrelor
- Where
- 8 sites in Belgium, Italy and 4 more
- Volunteers
- 21 people
- Sponsor
- AstraZeneca
Autosomal Dominant Polycystic Kidney Disease
Pravastatin and Alkali Therapy in Patients With Autosomal Dominant Polycystic Kidney Disease
This is an one-year open-label study to determine treatment efficacy and feasibility of a trial that uses open-label interventions in ADPKD patients.
- Trial name
- ADPKD-SAT (NCT04284657)
- Testing
- Pravastatin, sodium citrate
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Southern California
Iron Overload, Accelerated Phase Chronic Myelogenous Leukemia
Deferasirox for Treating Patients Who Have Undergone Allogeneic Stem Cell Transplant and Have Iron Overload
RATIONALE: Low dose deferasirox may be safe and effective in treating patients who have undergone hematopoietic stem cell transplant and have iron overload.
- Conditions
- Iron Overload, Accelerated Phase Chronic Myelogenous Leukemia, Adult Acute Lymphoblastic Leukemia in Remission, Adult Acute Myeloid Leukemia in Remission
- Trial name
- NCT01159067
- Testing
- deferasirox
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- City of Hope Medical Center
22q11.2 Deletion Syndrome
Effects of Methylphenidate on Brain and Cognition in 22q11 Deletion Syndrome
Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with a high risk of psychiatric disorders, including schizophrenia spectrum disorders.
- Trial name
- NCT04647500
- Testing
- Concerta
- Where
- Switzerland
- Volunteers
- 45 people
- Sponsor
- University of Geneva, Switzerland
Duchenne Muscular Dystrophy
DART Electrical Impedance Myography (EIM) Trial in Duchenne Muscular Dystrophy (DMD) and Healthy Controls
Physicians seek a method to assess neuromuscular disease that is both non-invasive and quantifiable. Many patients do not tolerate standard current day assessment tools (such as needle electromyogram), and Electrical Impedance…
- Trial name
- NCT01523964
- Testing
- Testing with EIM
- Where
- 6 sites in United States
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Dart Therapeutics. LLC
Down Syndrome, Alzheimer's Disease
Down Syndrome Biomarker Initiative (DSBI)
Non-randomized natural history study involving 12 subjects with Down Syndrome, who are aged 30-60 years old. This study will observe 3 different groups: four non-demented subjects between ages 30-40 years old, four non-demented…
- Trial name
- DSBI (NCT02141971)
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Michael Rafii
Angelman Syndrome
Nutritional Formulation for Angelman Syndrome
Low carbohydrate diets such as the ketogenic (KD) and low glycemic index (LGIT) diets have been shown to be effective in treating drug resistant seizures in children with Angelman syndrome (AS).
- Trial name
- FANS (NCT03644693)
- Testing
- Nutritional Formulation Containing Exogenous Ketones
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- University of Colorado, Denver
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Polycystic Kidney Disease 1 (PKD1) Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease
The purpose of this study is to estimate the prevalence, demographic, and clinical characteristics of PKD1/2 gene variant groups in the ADPKD population.
- Trial name
- NCT06747572
- Where
- 45 sites in United States, Belgium and 7 more
- Volunteers
- 401 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Ataxia Telangiectasia
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside
Study design: Single arm open-label clinical trial in ataxia-telangiectasia to test the effects of nicotinamide riboside on ataxia scales, immune function, and neurofilament light chain.
- Trial name
- ATNAD (NCT06324877)
- Testing
- Nicotinamide riboside
- Where
- Australia
- Volunteers
- 10 people
- Sponsor
- The University of Queensland
Congenital Bleeding Disorder, Haemophilia A
Safety and Efficacy of Turoctocog Alfa in Previously Treated Male Children With Haemophilia A
This trial is conducted in Asia, Europe, and North and South America. The aim of this clinical trial is to investigate the safety and efficacy of turoctocog alfa (recombinant factor VIII, rFVIII (N8)) in male previously treated…
- Trial name
- guardian™ 3 (NCT01138501)
- Testing
- turoctocog alfa
- Where
- 38 sites in United States, Brazil and 11 more
- Volunteers
- 65 people
- Sponsor
- Novo Nordisk A/S
Cancer
Heparin or M-EDTA in Preventing Catheter-Related Infections and Blockages in Patients at High Risk for a Catheter-Related Infection
RATIONALE: Heparin or M-EDTA may prevent catheter-related infections and blockages in patients at high risk for a catheter-related infection.
- Trial name
- NCT00378781
- Testing
- Heparin, Minocycline-EDTA
- Sponsor
- M.D. Anderson Cancer Center
Multicystic Dysplastic Kidney, Polycystic Kidney Disease
Amnioinfusion for Fetal Renal Failure
The goal of this clinical trial is to learn if serial amnioinfusions can improve the chances of survival for fetuses with severe kidney problems that cause low amniotic fluid (anhydramnios).
- Conditions
- Multicystic Dysplastic Kidney, Polycystic Kidney Disease, Fetal Renal Anomaly, Anhydramnios
- Trial name
- NCT06728228
- Testing
- Amnioinfusion
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Fetal Care Center, PLLC
Adult Caregivers of Individuals With TSC, Tuberous Sclerosis Complex (TSC)
TANDem-2: Closing the Gap to Interventions for TAND
The goal of this pilot study is to determine the feasibility, acceptability and impact of a brief behavioral intervention - the "Well-Beans for Caregivers" program, for adult caregivers of individuals with tuberous sclerosis…
- Trial name
- TANDem-2 (NCT06879665)
- Testing
- Well-Beans for Caregivers Program
- Where
- 2 sites in United States, Australia
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Vrije Universiteit Brussel
Suicide Prevention, Help-Seeking Behavior
Healthcare for Men with Suicidal Thoughts: Needs Assessment
The aim of the current project is twofold, namely 1. To gain insight into needs related to help-seeking among men with (previous) suicidal thoughts (STUDY 1).
- Conditions
- Suicide Prevention, Help-Seeking Behavior, Men
- Trial name
- KUJK2NEEDS (NCT06375200)
- Testing
- No intervention
- Where
- Belgium
- Volunteers
- 500 people
- Sponsor
- University Ghent
Port-Wine Stain
Pilot Study to Evaluate the Effect of Multiple Passes on Port Wine Stain Treatments With the Cutera Excel V™ Laser.
Two limitations of single pulse, laser treatment of port-wine stains (PWS) are: (i) hemorrhage and purpura which may lead to post-treatment pigmentation and (ii) the necessity for repeated treatment sessions.
- Trial name
- NCT04103164
- Testing
- Cutera excel V™ Laser
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Pregnant Women Requiring Amniocentesis
Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
Losses of imprinting are involved in various syndromes. Those occurring in the 11p15 region lead to Beckwith-Wiedemann and Silver-Russell Syndromes.
- Trial name
- DASIRUWIBE (NCT01842659)
- Testing
- Methylation Index
- Where
- France
- Volunteers
- 67 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris