Clinical trials: Congenital Malformation
Nosocomial Infection
New Dosages of Inflammatory Markers for the Early Diagnosis of Nosocomial Bacterial Infections of the Newborn
This study aims to evaluate new dosage of inflammatory markers or new inflammatory markers for the diagnosis of nosocomial bacterial infection.
- Trial name
- NOSODIAG (NCT00701948)
- Where
- 2 sites in France
- Volunteers
- 240 people
- Sponsor
- University Hospital, Strasbourg, France
Alport Syndrome
Vonafexor ALPort Syndrome Efficacy & Safety TRIAl-1 (ALPESTRIA-1)
This study is a proof-of-concept trial of vonafexor safety, its effects on kidney function in subjects with at risk of progression Alport syndrome.
- Trial name
- ALPESTRIA-1 (NCT06425055)
- Testing
- Vonafexor
- Where
- 13 sites in United States, France and 1 more
- Volunteers
- 26 people
- Sponsor
- Enyo Pharma
Nephropathic Cystinosis, Cystinosis
Pilot Study of TTI-0102 in Cystinosis
White blood cell (WBC) cystine levels serve as the primary therapeutic target for monitoring cysteamine treatment in cystinosis, with a goal of <1.9 nmol ½ cystine/mg protein as measured 5-6 hours post-dose when treated with…
- Trial name
- NCT07837726
- Testing
- TTI-0102 (cysteamine-pantetheine disulfide)
- Volunteers
- 6 people
- Sponsor
- Thiogenesis Therapeutics, Inc.
Retinitis Pigmentosa (RP)
Retrospective Natural History Study of Retinitis Pigmentosa
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6A or PDE6B gene mutations.
- Trial name
- PHENOROD1 (NCT03975543)
- Where
- France
- Volunteers
- 113 people
- Sponsor
- SparingVision
Alpha-Mannosidosis
Evaluation of Long-term Efficacy of Treatment With Lamazym
The overall objective is to evaluate the long-term efficacy of Lamazym i.v. treatment in patients with alpha-Mannosidosis previously enrolled in Lamazym trials and currently receiving the treatment according to the AfterCare…
- Trial name
- rhLAMAN-10 (NCT02478840)
- Testing
- Lamazym
- Where
- Denmark
- Volunteers
- 18 people
- Sponsor
- Zymenex A/S
Duchenne Muscular Dystrophy
A Long-term Observational Study Evaluating Eteplirsen, Golodirsen, or Casimersen in Routine Clinical Practice
This is a phase 4, multicenter, prospective, observational study designed to collect both medical history data and prospective data on Duchenne Muscular Dystrophy (DMD) treatment outcomes in participants receiving eteplirsen…
- Trial name
- EVOLVE (NCT06606340)
- Testing
- Eteplirsen, Golodirsen, Casimersen
- Where
- 23 sites in United States
- Volunteers
- 300 people
- Sponsor
- Sarepta Therapeutics, Inc.
Liver Post-transplant Patients
Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients
Lysosomal Acid Lipase (LAL) deficiency is a rare, autosomal recessive storage disease linked to decrease enzymatic activity of LAL, responsible for intracellular accumulation of cholesterol esters and triglycerides.
- Trial name
- LALTH-2 (NCT02851550)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Hospices Civils de Lyon
Severe Combined Immunodeficiency, Atypical
Generalized Neonatal Screening of Severe Combined Immunodeficiencies
Severe combined Immunodeficiencies ( SCID ) are a group of inherited diseases of the immune system by characterised profound abnormalities of T cell development .
- Trial name
- DEPISTREC (NCT02244450)
- Testing
- SCID screening
- Where
- 51 sites in France
- Volunteers
- 190,539 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Hemophilia A
Factor IX as Adjunctive Therapy to Emicizumab (EMIX)
This trial will enroll patients with severe hemophilia A. Experiments will be run in vitro by spiking patients' blood with different molecules (currently used and theoretically proposed as adjunctive therapy to emicizumab)…
- Trial name
- NCT05281718
- Testing
- Factor IX
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Tulane University
Spinal Cord Injury, Neurogenic Detrusor Overactivity
Is the Nerve Growth Factor (NGF) a Useful Biomarker in Neurogenic Bladder Dysfunction After Spinal Cord Injury?
Spinal cord injury (SCI) almost always affects bladder function as well. As a result of this bladder dysfunction, individuals with SCI have to undergo regular invasive examination of their bladder function (urodynamic…
- Conditions
- Spinal Cord Injury, Neurogenic Detrusor Overactivity, Neurogenic Lower Urinary Tract Dysfunction
- Trial name
- NCT02138149
- Where
- Switzerland
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- Swiss Paraplegic Research, Nottwil
Cystic Fibrosis, Quality of Life
The Effects of Massage Therapy on QOL in Youth/Young Adults With Cystic Fibrosis
The purpose of this study is to describe the effects of massage therapy on quality of life (QOL) in youth and young adults (ages 8 to 21 years) with cystic fibrosis (CF).
- Trial name
- NCT01729585
- Testing
- Massage Therapy
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Graves Ophthalmopathy
Sirolimus for Graves' Orbitopathy (GO)
Graves' Orbitopathy (GO) is a disabling and disfiguring condition associated with Graves' Disease, due to autoimmunity against antigens expressed by the thyroid and orbital tissues, and resulting in orbital fibroblast…
- Trial name
- SIRGO (NCT04598815)
- Testing
- Sirolimus
- Where
- Italy
- Volunteers
- 54 people
- Sponsor
- University of Pisa
Sickle Cell Disease
A Study to Investigate the Effect of Mitapivat on Transfusion Burden in Subjects With Sickle Cell Disease (SCD)
The primary objective of this study is to determine the effect of mitapivat versus placebo on the need for transfusions in subjects with SCD.
- Trial name
- NCT07656415
- Testing
- Mitapivat
- Where
- 5 sites in United States
- Volunteers
- 159 people
- Sponsor
- Agios Pharmaceuticals, Inc.
Phenylketonuria
A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects
Sapropterin dihydrochloride (subsequently referred to as sapropterin) (Kuvan®) was approved by the FDA for the treatment of hyperphenylalaninemia in 2007.
- Trial name
- NCT00789568
- Testing
- sapropterin dihydrochloride, Moxifloxacin
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- BioMarin Pharmaceutical
Sickle Cell Disease
Biotin-RBC Transfusion in SCD
This is a single-arm, mechanistic clinical trial to measure predictors of senescence and the in vivo survival of transfused red blood cells (RBCs) in individuals with sickle cell disease (SCD) receiving chronic transfusion…
- Trial name
- NCT04426591
- Testing
- Biotin Labeled Red Blood Cells, Pathogen-reduced Biotin Labeled Red Blood Cells
- Where
- 3 sites in United States
- Volunteers
- 22 people
- Sponsor
- Marianne Yee
Teeth Absent, Tooth-loss
Peri-implant Tissues on the Galimplant Anti-rotational Slim Abutment.
A dental implant is an alloplastic material surgically inserted in a residual bone ridge, mainly with a prosthetic foundation. Nowadays the most widely used implants and with a higher degree of scientific evidence are the…
- Conditions
- Teeth Absent, Tooth-loss, Tooth Extraction, Dental Implant
- Trial name
- NCT05118815
- Testing
- Slim abutment, Standard abutment
- Where
- Spain
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- University of Santiago de Compostela
Congenital Myotonia
Relations Between Myotonia and Fitness
Investigators aimed to investigate whether training can increase fitness levels in patients with myotonia, and thereby reduce the symptom of myotonia.
- Trial name
- NCT02161835
- Testing
- Training
- Where
- Denmark
- Volunteers
- 9 people
- Sponsor
- Grete Andersen, MD
Psuedomas Infection, Cystic Fibrosis
The Role of Bacteria and Genetic Variations in Cystic Fibrosis
This study will examine 1) the role of hereditary factors in cystic fibrosis; i.e., the relationship of the disease to specific gene variations, and 2) the role of bacterial products involved in lung infections substances…
- Trial name
- NCT00043225
- Where
- 4 sites in United States
- Volunteers
- 76 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Duchenne Muscular Dystrophy
Exploratory Study of NS-065/NCNP-01 in DMD
This study is designed to assess the safety, tolerability, efficacy and pharmacokinetics (PK) of NS-065/NCNP-01 in subjects diagnosed with Duchenne muscular dystrophy (DMD).
- Trial name
- NCT02081625
- Testing
- NS-065/NCNP-01
- Where
- Japan
- Volunteers
- 10 people
- Sponsor
- National Center of Neurology and Psychiatry, Japan
Anemia, Sickle Cell
Transfusion Treatment in Patients With SCD
The "National Transfusion Treatment Survey in patients with sickle cell disease (SCD)" is a prospective longitudinal systemic study that was created in order to evaluate the therapeutic approach, mainly transfusional, in patients…
- Trial name
- NCT03397017
- Testing
- Transfusion
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Società Italiana Talassemie ed Emoglobinopatie
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