Clinical trials: Multiple Congenital Anomaly
Down Syndrome, SARS-CoV-2 Vaccination
Prospective Monitoring of Antibody Response Following COVID-19 Vaccination in Patients With Down Syndrome.
The risk of severe course of SARS-CoV-2 infection in people with Down Syndrome is substantially increased. The risk of death is 3-10 fold higher than in healthy people.
- Trial name
- PRIDE (NCT05145348)
- Testing
- Immune response to Sars-CoV-2 vaccinations; including COVID-19 vaccin Moderna, Comirnaty (Pfizer) and Vaxzevria (AstraZeneca)
- Where
- Netherlands
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- UMC Utrecht
Down Syndrome
A Non-Drug Study of The Suitability of Neurocognitive Tests And Functioning Scales For The Measurement of Cognitive And Functioning Changes in Individuals With Down Syndrome
This non-drug, longitudinal, multi-center, multi-national study will evaluate the suitability of neurocognitive tests and functioning scales for the measurement of cognitive and functioning changes in individuals with Down…
- Trial name
- NCT01580384
- Where
- 12 sites in United States, Argentina and 5 more
- Volunteers
- 90 people
- Sponsor
- Hoffmann-La Roche
Cystic Fibrosis
Evaluation of Ciprofloxacin for Inhalation to Cystic Fibrosis Patients With P. Aeruginosa
This is a Phase 1/2a, multicenter study, designed to evaluate the pharmacokinetics, safety, and tolerability of once daily administration of 150 mg of Ciprofloxacin for Inhalation (CFI) in patients with Cystic Fibrosis who have a…
- Trial name
- NCT01090908
- Testing
- Antibiotic
- Sponsor
- Aradigm Corporation
Beta-Thalassemia
Iron Status in BTM With Blood Transfusion
To assess the possible role of iron overload as a cause of liver dysfunction in thalassemic childrens receiving multiple blood transfusion and its correlation with serum aminotransferases.
- Trial name
- NCT04947540
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Assiut University
Polycystic Kidney, Autosomal Recessive
A Safety, Pharmacokinetic, Single Ascending Dose Study of Tesevatinib in Pediatric Subjects With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
This study evaluates safety and tolerability of a single ascending dose of a tesevatinib liquid formulation administered to pediatric subjects with ARPKD.
- Trial name
- NCT03096080
- Testing
- Tesevatinib
- Where
- 2 sites in United States
- Volunteers
- 10 people
- Sponsor
- Kadmon Corporation, LLC
VHL Pancreatic Neuroendocrine Tumors, Von Hippel-Lindau Disease
Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors
Background: People with von Hippel-Lindau (VHL) can have problems with a variety of organs, such as the pancreas. The disease can cause tumors of the pancreas. This can result in life-threatening complications.
- Conditions
- VHL Pancreatic Neuroendocrine Tumors, Von Hippel-Lindau Disease, Neuroendocrine Tumors
- Trial name
- NCT04074135
- Testing
- 68-Gallium DOTATATE
- Where
- United States
- Volunteers
- 740 people
- Sponsor
- National Cancer Institute (NCI)
Mild Cognitive Impairment
Effects of Shuttle Balance Training on Balance , Gait and Postural Control in Children With Mild Cognitive Impairment
This study aims to investigate the impact of Shuttle Balance Training (SBT) on balance, gait, and postural control among children diagnosed with mild cognitive impairment (MCI).
- Trial name
- NCT06974890
- Testing
- Shuttle Balance Training, Baseline Treatment
- Where
- Pakistan
- Volunteers
- 24 people
- Sponsor
- Riphah International University
Translocation Down Syndrome, Chromosomal Abnormalities
Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents
This research study will investigate a special type of Down syndrome called translocation Down syndrome. While most children with Down syndrome have an extra copy of chromosome 21, about 3-4% have this extra chromosome material…
- Trial name
- PTP-DS (NCT07175168)
- Testing
- No medical or experimental intervention will be administered
- Volunteers
- 230 people
- Sponsor
- Assiut University
Neutropenia
A Study of Mavorixafor in Participants With Congenital and Acquired Primary Autoimmune and Idiopathic Chronic Neutropenic Disorders Who Are Experiencing Recurrent and/or Serious Infections
The purpose of this study is to demonstrate the efficacy and evaluate the safety and tolerability of mavorixafor in participants with congenital or acquired primary autoimmune and idiopathic chronic neutropenic disorders who are…
- Trial name
- NCT06056297
- Testing
- Mavorixafor
- Where
- 114 sites in United States, Argentina and 23 more
- Volunteers
- 176 people
- Sponsor
- X4 Pharmaceuticals
Tuberous Sclerosis Complex, Epilepsy
Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants
This phase I/II clinical trial is an open-label clinical trial design to verify safety and dosing for TAVT-18 (sirolimus) powder for oral solution in TSC infants (N=5).
- Trial name
- STOP2 (NCT04595513)
- Testing
- TAVT-18 (sirolimus)
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Marfan Syndrome, FBN1 Mutation
Genome-wide Epistasis for Cardiovascular Severity in Marfan Study
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular systems.
- Trial name
- GEMS (NCT06257004)
- Testing
- Saliva collection (screening of all participants), Bloodsampling
- Where
- Belgium
- Volunteers
- 200 people
- Sponsor
- University Hospital, Antwerp
Cystic Fibrosis
The Role of Oral Glutathione on Growth Parameters in Children With Cystic Fibrosis
The purpose of this randomized, placebo-controlled (Phase II) study will be to further evaluate the effects of oral glutathione on growth in children with CF.
- Trial name
- GROW (NCT03020719)
- Testing
- Oral Glutathione
- Where
- 18 sites in United States
- Volunteers
- 60 people
- Sponsor
- University of Minnesota
Hippel-Lindau Disease
EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome
This study will test the ability of the experimental drug EYE001 to reduce retinal thickening and improve vision in patients with Von Hippel-Lindau syndrome (VHL).
- Trial name
- NCT00056199
- Testing
- EYE001
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Eye Institute (NEI)
Asthma, Primary Ciliary Dyskinesia
Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)
Asthma is a major health problem worldwide. The measurement of fractional exhaled nitric oxide (FENO) has been established as a valuable non invasive and simple tool in the diagnosis of asthma and may also act as a useful…
- Trial name
- NCT00686309
- Where
- Israel
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Ziv Hospital
Hypotonia-Cystinuria Syndrome, Muscle Hypotonia
PREPL in Health and Disease
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
- Conditions
- Hypotonia-Cystinuria Syndrome, Muscle Hypotonia, Healthy Volunteers, Dwarfism, Growth Hormone Deficiency
- Trial name
- PHD (NCT02263781)
- Testing
- Blood draw, muscle biopsy
- Where
- Belgium
- Volunteers
- 125 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Tuberous Sclerosis Complex, Epilepsy
The Effectiveness and Safety of Resective Epilepsy Surgery for TRE
A prospective cohort studies to identify clinical seizure control, cognitive changes, and safety in resective epilepsy surgery in patients with TSC-related drug-resistant epilepsy.
- Trial name
- NCT04198181
- Testing
- Surgery
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Beijing Children's Hospital
Dermatitis, Atopic
Prevention of Asthma With Levocetirizine 18 Month Treatment in Infants (12 - 24 Months) Suffering From Eczema (Atopic Dermatitis) and Sensitized to Grass Pollen and/or House Dust Mite (HDM)
The Early Prevention of Asthma in Atopic Children (EPAAC™). 24 months study to evaluate the efficacy and safety of levocetirizine (LCTZ) in preventing the onset of asthma in 12 to 24 months old children.
- Trial name
- NCT00152464
- Testing
- Levocetirizine
- Volunteers
- 514 people
- Sponsor
- UCB Pharma SA
Waardenburg Syndrome, Large Vestibular Aqueduct Syndrome
Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit
The purpose of this study is to develop and applicate two new genetic deafness gene diagnostic kit for Waardenburg syndrome and large vestibular aquduct syndrome.
- Trial name
- NCT02418936
- Testing
- gene diagnostic kit
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Xiangya Hospital of Central South University
Ciliopathies, Nephronophthisis
Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure.
- Conditions
- Ciliopathies, Nephronophthisis, Senior-Loken Syndrome, Joubert Syndrome
- Trial name
- CILLICORIRCM (NCT04874909)
- Testing
- Blood sample, Urine sample
- Where
- France
- Volunteers
- 240 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Prader-Willi Syndrome
A Study to Assess RAD011 (Cannabidiol Oral Solution) for the Treatment of Participants With Prader-Willi Syndrome
This was a study investigating RAD011 in participants diagnosed with Prader-Willi Syndrome (PWS). The primary objective of the Phase 2 part of this study was to assess the safety and tolerability of multiple dose levels of RAD011…
- Trial name
- NCT05098509
- Testing
- RAD011
- Where
- 8 sites in United States
- Volunteers
- 4 people
- Sponsor
- Radius Pharmaceuticals, Inc.