Clinical trials: Genetic Syndrome
Wilson's Disease
Efficacy and Safety, Long-term Study of Zinc Acetate to Treat Wilson's Disease in Japan.
The purpose of this long-term study is to determine whether Zinc Acetate is effective and safe in the treatment of Wilson's disease among Japanese.
- Trial name
- NCT00212355
- Testing
- NPC-02
- Volunteers
- 37 people
- Sponsor
- Nobelpharma
Familial Chylomicronemia, High Risk Severe Hypertriglyceridemia (SHTG)
Treatment Protocol of Plozasiran in Adults With High-Risk Severe Hypertriglyceridemia (SHTG) and in Adults and Adolescents With FCS
This is a treatment program for the use of plozasiran in adults (AROAPOC3-EAP-002) and adolescents (AROAPOC3-EAP-003) with familial chylomicronemia syndrome (FCS) as well as in adults (AROAPOC3-EAP-004) with high risk severe…
- Trial name
- NCT06796426
- Testing
- Plozasiran
- Where
- United States
- Sponsor
- Arrowhead Pharmaceuticals
Achondroplasia
A Clinical Trial to Evaluate Safety of Vosoritide in At-risk Infants With Achondroplasia
Study 111-209 is a Phase 2 randomized, open-label clinical trial of BMN 111 in infants and young children with a diagnosis of Achondroplasia at a heightened risk of requiring cervicomedullary decompression surgery
- Trial name
- NCT04554940
- Testing
- vosoritide
- Where
- 3 sites in Australia, United Kingdom
- Volunteers
- 20 people
- Sponsor
- BioMarin Pharmaceutical
Cystic Fibrosis, COVID-19
COVID-19 Antibody Responses in Cystic Fibrosis
Coronavirus disease 2019 (COVID-19) which is caused by the virus SARS-CoV-2 has resulted in an ongoing global pandemic. It is unclear whether the relatively low number of reported cases of COVID-19 in people with CF (pwCF) is due…
- Trial name
- CAR-CF (NCT05561868)
- Where
- 2 sites in Ireland
- Volunteers
- 70 people
- Sponsor
- Children's Health Ireland
Cystic Fibrosis
The Use of Visual Feedback in Airway Clearance
Cystic Fibrosis (CF) patients perform airway clearance incorporating various breathing strategies, to clear secretions from their lungs.
- Trial name
- NCT01546779
- Testing
- Tri-Gym
- Where
- Israel
- Volunteers
- 40 people
- Sponsor
- Sheba Medical Center
Pulmonary Infections, Pseudomonas Aeruginosa in Cystic Fibrosis
Long Term Safety of Tobramycin Inhalation Powder in Patients With Cystic Fibrosis
This study assessed the long term safety data for the use of tobramycin inhalation powder in patients suffering from cystic fibrosis who have a chronic pulmonary infection with Pseudomonas aeruginosa.
- Trial name
- NCT01519661
- Testing
- TBM100
- Where
- 49 sites in United States, Argentina and 8 more
- Volunteers
- 157 people
- Sponsor
- Novartis Pharmaceuticals
Pediatric Cancer, Immune System Disorder
Pediatrics HOT COVID-19 Database in NY Tristate
New York City (NYC) has become the epicenter of the worldwide pandemic caused by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2).
- Conditions
- Pediatric Cancer, Immune System Disorder, COVID-19, Hemoglobinopathies
- Trial name
- NCT04445402
- Where
- United States
- Volunteers
- 77 people
- Sponsor
- Columbia University
Sickle Cell Disease
A New Reagent Assay Examining Natural Parvovirus B19 Infection in Sickle Cell Disease
Parvovirus B19 is a small virus that is the cause of "fifth" disease, a common infection in childhood. In people with sickle cell disease (SCD), parvovirus B19 infection causes the bone marrow to stop producing red blood cells…
- Trial name
- NCT02261480
- Testing
- Blood draw, Nasopharyngeal wash
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- St. Jude Children's Research Hospital
Hemophilia A With Inhibitors
rFVIIa Prophylaxis in Children With Hemophilia A and Inhibitors
The study evaluates the efficacy and safety of a prophylactic treatment with recombinant activated FVII in reducing the frequency of joint bleeds and the development of joint damage in children with hemophilia A who develop…
- Trial name
- ENJOIH (NCT01105546)
- Testing
- recombinant activated factor VII
- Where
- 15 sites in United States, France and 4 more
- Volunteers
- 50 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Duchenne Muscular Dystrophy
Open Label, Extension Study of PRO044 in Duchenne Muscular Dystrophy (DMD)
The purpose of this study is to see whether PRO044 is safe and effective to use as medication for Duchenne Muscular Dystrophy (DMD) patients with a mutation around location 44 in the DNA for the dystrophin protein.
- Trial name
- NCT02329769
- Testing
- PRO044 SC 6 mg/kg, PRO044 IV 6 mg/kg, PRO044 IV 9 mg/kg
- Where
- 5 sites in Belgium, Italy and 2 more
- Volunteers
- 15 people
- Sponsor
- BioMarin Pharmaceutical
Sickle Cell Disease
Comparison of Allogeneic Matched Related Haematopoietic Stem Cell Transplantation After a Reduced Intensity Conditioning Regimen With Standard of Care in Adolescents and Adults With Severe Sickle Cell Disease
Although the survival of children with sickle cell disease (SCD) has dramatically improved over the last decades in the US and Europe, mortality remains high in adults.
- Trial name
- DREPA-RIC (NCT04046705)
- Testing
- Allogeneic matched related haematopoietic stem cell transplantation, Standard arm
- Volunteers
- 78 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Duchenne Muscular Dystrophy, Musculoskeletal Abnormalities
Pediatric Radio Frequency Coils Generic
The purpose of this study is to evaluate and optimize advances in radio frequency (RF) coil magnetic resonance imaging (MRI) technology at Cincinnati Children's Hospital Medical Center (CCHMC).
- Trial name
- NCT01633866
- Where
- United States
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Down Syndrome
Effects of (tDCS) Combined With Virtual Reality Versus CPT on Brain, Cognitive, and GMS in Children With DS.
This randomized controlled trial aims to compare the effects of transcranial direct current stimulation (tDCS) combined with virtual reality-based training versus conventional physical therapy on brain activity, cognitive…
- Trial name
- NCT07385066
- Testing
- Conventional Physical Therapy, Experimental group (tDCS + Virtual Reality)
- Where
- Pakistan
- Volunteers
- 30 people
- Sponsor
- Superior University
Haemophilia A
TGA (Thrombin Generation Assay) and Prophylaxis in Haemophilia
Haemophilic arthropathy is one of the major complications of severe haemophilia. In order to maintain plasma clotting factor activity levels above 1% and avoid spontaneous joint bleeds and other serious bleeding events…
- Trial name
- HOPE (NCT02781766)
- Testing
- Thrombin generation measurement.
- Where
- 7 sites in France
- Volunteers
- 50 people
- Sponsor
- Hospices Civils de Lyon
PML, AIDS
Genetics of Progressive Multifocal Leukoencephalopathy and Acquired Immunodeficiency Syndrome
This study will identify genetic factors associated with the development of progressive multifocal leukoencephalopathy (PML) in patients with acquired immunodeficiency syndrome (AIDS).
- Trial name
- NCT00342602
- Where
- 6 sites in United States
- Volunteers
- 450 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Cystic Fibrosis, Adherence, Medication
Evaluation of the ReX-C System, in Patients Receiving CFTR Modulators for the Treatment of Cystic Fibrosis (CF).
Cystic fibrosis (CF) is a progressive multisystem disorder characterized by abnormalities in the transport of chloride ions in human airway epithelial cells, leading to frequent lung infections, decreased pulmonary function…
- Trial name
- NCT04215796
- Testing
- ReX-C system
- Where
- 2 sites in Israel
- Volunteers
- 10 people
- Sponsor
- Dosentrx Ltd.
Immunologic Deficiency Syndromes, Chediak-Higashi Syndrome
Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies
OBJECTIVES: I. Provide curative immunoreconstituting allogeneic bone marrow transplantation for patients with primary immunodeficiencies. II.
- Conditions
- Immunologic Deficiency Syndromes, Chediak-Higashi Syndrome, Common Variable Immunodeficiency, Graft Versus Host Disease
- Trial name
- NCT00006054
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Sponsor
- Fairview University Medical Center
Pompe's Disease
Prevalence of Heterozygote Mothers for Pompe's Disease Among Mothers Having Delivered in French Guiana
Given the high incidence of Pompe's Disease in French Guiana (100 times higher than in mainland France) the aim is to determine the prevalence of heterozygotes among women having just delivered in French Guiana who accepted that…
- Trial name
- DEPIPOMP2 (NCT02903654)
- Testing
- observational
- Volunteers
- 925 people
- Sponsor
- Centre Hospitalier de Cayenne
Osteogenesis Imperfecta
Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI
This is a prospective, multicenter, single-arm study in children 2 to 17 years of age with OI to evaluate efficacy and safety of denosumab.
- Trial name
- OI (NCT02352753)
- Testing
- Denosumab
- Where
- 49 sites in United States, Australia and 11 more
- Volunteers
- 153 people
- Sponsor
- Amgen
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
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