Clinical trials: Congenital Diseases
Turner Syndrome
Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
Turner syndrome affects 1/2500 female newborns. It is characterized by a short stature, gonadal dysgenesis and bone anomalies. It is secondary to X chromosome abnormality.
- Trial name
- Turner-Ylc (NCT06202846)
- Testing
- cfDNA analysis
- Where
- 2 sites in France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Strasbourg, France
Blood Disease, Anemia, Sickle Cell
Pediatrics:Chlamydia, Sickle Cell Anemia and Stroke Risk - Ancillary to STOP II
To establish a link among Chlamydia infection, sickle cell anemia, and stroke risk.
- Conditions
- Blood Disease, Anemia, Sickle Cell, Chlamydia Infections, Cerebrovascular Accident
- Trial name
- NCT00037388
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Cystic Fibrosis
Steady-state Pharmacokinetics of Ceftazidime/Avibactam in Cystic Fibrosis
The purpose of this research study is to characterize the pharmacokinetics of intravenous ceftazidime/avibactam in patients with Cystic Fibrosis.
- Trial name
- NCT02504827
- Testing
- Ceftazidime/avibactam
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- University of Southern California
Grönblad-Stranberg Disease (Pseudoxanthoma Elasticum)
Response to Oral Lansoprazole of Inorganic Pyrophosphate Levels in Patients With Grönblad-Stranberg Disease (Pseudoxanthoma Elasticum)
Protocol code and version: FIM-PXE-2016-01 Version 1.4 Trial title: "Response to oral lansoprazole of inorganic pyrophosphate levels in patients with Grönblad- Stranberg disease (Pseudoxanthoma Elasticum)" Trial design…
- Trial name
- FIMPXE2016-01 (NCT04660461)
- Testing
- Lansoprazole 30mg
- Where
- Spain
- Volunteers
- 20 people
- Sponsor
- Fundación Pública Andaluza para la Investigación de Málaga en Biomedicina y Salud
Cancer
Clinical Study of WT2725 in Patients With Advanced Malignancies
This clinical study is designed to evaluate the safety, immunogenicity and antitumor activity of WT2725. WT2725 will be administered to patients with advanced malignancies known to overexpress WT1
- Trial name
- NCT01621542
- Testing
- WT2725
- Where
- 6 sites in United States
- Volunteers
- 64 people
- Sponsor
- Sumitomo Pharma America, Inc.
Healthy Volunteer, Muscular Dystrophies
Absorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers
This is a Phase 1 2-part, single-center, open-label study in healthy male volunteers. Part A will assess the absorption, metabolism, excretion, and pharmacokinetics of one oral dose of radiolabeled EDG-5506.
- Conditions
- Healthy Volunteer, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- NCT05730842
- Testing
- EDG-5506 Tablet, Radiolabeled EDG-5506 Suspension, Radiolabeled EDG-5506 Intravenous
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Edgewise Therapeutics, Inc.
Thyroid Eye Disease, Graves Ophthalmopathy
The Effect of Teprotumumab on Thyroid Eye Disease and Thyroid Dysfunction
This protocol studies the clinical outcome of patients with active thyroid disease with visually significant signs and symptoms of proptosis, pain, diplopiam lid/orbital edema, or lid/orbital erythema recommended for treatment…
- Conditions
- Thyroid Eye Disease, Graves Ophthalmopathy, Graves Disease
- Trial name
- Teprotumumab (NCT06275373)
- Testing
- Teprotumumab Injection [Tepezza]
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Walter Reed National Military Medical Center
Alpha-Mannosidosis
Analysis of Velmanase Alfa (Lamzede®)'s Effects in the Body of Children With Alpha-Mannosidosis Under the Age 3
The goal of this observational study is to learn the effects of the drug velmanase alfa (Lamzede®) in the bodies of children under the age of 3 with Alpha-Mannosidosis.
- Trial name
- LAMPO(0-3) (NCT06184503)
- Testing
- Velmanase Alfa
- Where
- 2 sites in United States
- Volunteers
- 5 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Duchenne Muscular Dystrophy
Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy
In some patients with Duchenne muscular dystrophy (DMD), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the dystrophin protein.
- Trial name
- NCT00264888
- Testing
- PTC124
- Where
- 3 sites in United States
- Volunteers
- 38 people
- Sponsor
- PTC Therapeutics
Gaucher Disease
Exploration of Immunity in Gaucher Disease
Gaucher disease (GD), the inherited deficiency of the lysosomal enzyme glucocerebrosidase is characterized with accumulation of abnormal lipid in cells of the immune system, called macrophages.
- Trial name
- NCT01358188
- Where
- United States
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Cystic Fibrosis
Inflammatory Markers in Broncho-alveolar Lavage Fluid as Risk Factors for Lung Disease in Infants With Cystic Fibrosis: the I-BALL Study
Airway disease, featuring intense inflammation, is the main cause of morbidity and mortality in cystic fibrosis (CF). Mechanisms of CF airway inflammation remain unclear, hampering development of better treatments.This…
- Trial name
- I-BALL (NCT02907788)
- Where
- Netherlands
- Volunteers
- 51 people
- Sponsor
- Erasmus Medical Center
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.
Cerebral Palsy, Neuromuscular Disease
Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular Dystrophy
Background: Neuromuscular diseases (NMDs) do not have cures. But future treatments will try to improve the health-related quality of life (HRQoL) in people with NMD. Computer questionnaires can help test HRQoL in people with NMD.
- Trial name
- NCT02153970
- Where
- United States
- Volunteers
- 137 people
- Sponsor
- National Institute of Nursing Research (NINR)
Congenital Adrenal Hyperplasia
Effects of Pioglitazone in Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, an autosomal recessive condition, is mainly caused by mutations in the gene 21-hydroxylase and is treated with glucocorticoids in a slightly supraphysiological dose.
- Trial name
- NCT00151710
- Testing
- Pioglitazone
- Where
- Netherlands
- Sponsor
- Radboud University Medical Center
Atopic Dermatitis
Validation of the Short-term Antimicrobial Action of Transplanted Bacteria
Unlike healthy control skin, the skin of patients with atopic dermatitis (AD) is frequently colonized by Staphylococcus aureus (S. aureus), putting these patients at increased risk of S. aureus skin infections.
- Trial name
- NCT01959113
- Testing
- Autologous Microbiome Transplant
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- University of California, San Diego
Sickle Cell Disease
Haploidentical Stem Cell Transplant for Patients With Sickle Cell Disease and Prior Stroke or Abnormal Transcranial Ultrasound
Sickle cell disease is a life-long blood condition that can cause damage to the brain and other organs of the body. Children may develop severe, debilitating clinical states, with stroke or abnormal blood flow to the brain.
- Trial name
- NCT00152113
- Testing
- Hematopoietic Stem Cell Transplantation, CliniMACS, See intervention description
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- St. Jude Children's Research Hospital
Plagiocephaly, Nonsynostotic
Observe the Effects of the Serkel Cranial Remolding Orthosis on Infants With Deformational Plagiocephaly
The purpose of this study is to determine the safety and effectiveness of a specific brand of cranial remolding orthosis (a custom made helmet), which is new to the United States market
- Trial name
- NCT06831513
- Testing
- Serkel 3D CRO
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Bacterial Vaginosis, Premature Birth
Probiotics for the Prevention of Premature Birth and Neonatal Related Morbidity
The trial intends to evaluate the efficacy of specially designed probiotics to prevent premature birth and related neonatal morbidity associated to intra-uterine infection.
- Conditions
- Bacterial Vaginosis, Premature Birth, Sepsis, Periventricular Leukomalacia
- Trial name
- NCT00303082
- Testing
- Lactobacillus rhamnosus GR1 and Lactobacillus reuteri RC-14
- Where
- 2 sites in Brazil
- Volunteers
- 645 people
- Sponsor
- Oswaldo Cruz Foundation
Capillary Malformations, Vascular Malformations
Electrosclerotherapy for Capillary Malformations
Capillary malformations (port-wine stains) consist of abnormally developed capillary blood vessels in the skin. To date, laser therapy is the only widely accepted treatment modality for capillary malformations, but this therapy…
- Trial name
- NCT02883023
- Testing
- Electrosclerotherapy, Intralesional bleomycin injection
- Where
- Netherlands
- Volunteers
- 20 people
- Sponsor
- Sophie Horbach
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency
Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency
The purpose of this study is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency and the early-onset form of adenosine triphosphate binding cassette transporter subfamily C…
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets
- Trial name
- NCT07745179
- Where
- 8 sites in United States, France and 2 more
- Volunteers
- 23 people
- Sponsor
- Inozyme Pharma
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.