Clinical trials: Congenital Diseases
Thyroid Eye Disease
An Open-label Study (OLE) for Non-responders of VRDN-001-101 and VRDN-001-301
The investigational drug, VRDN-001, is a monoclonal antibody that inhibits the activity of a cell surface receptor called insulin-like growth factor-1 receptor (IGF-1R).
- Trial name
- OLE (NCT06179875)
- Testing
- Veligrotug
- Where
- 45 sites in United States, France and 6 more
- Volunteers
- 139 people
- Sponsor
- Viridian Therapeutics, Inc.
Beta Thalassemia Major Anemia, Iron Overload
Safety and Efficacy of Early Treatment With Deferiprone in Infants and Young Children
This study is looking at the effects of giving early treatment of deferiprone to young children with beta thalassemia who have started receiving regular blood transfusions but have not yet reached the criteria for starting on…
- Trial name
- START (NCT03591575)
- Testing
- Deferiprone oral solution
- Where
- 4 sites in Egypt, Indonesia
- Volunteers
- 64 people
- Sponsor
- Chiesi Canada Corp
Lynch Syndrome, Endometrial Cancer
Frequency of Endometrial Cancer Precursors Associated with Lynch Syndrome
Given that there is a significant prevalence of Lynch syndrome among patients with endometrial cancer (about 5% of patients with endometrial cancer), and given there is a known risk of endometrial cancer among patients with…
- Conditions
- Lynch Syndrome, Endometrial Cancer, Endometrial Hyperplasia, Mismatch Repair Deficiency
- Trial name
- NCT05257057
- Testing
- Immunohistochemical staining
- Where
- United States
- Volunteers
- 91 people, healthy volunteers welcome
- Sponsor
- WellSpan Health
Friedreich's Ataxia
A Study to Learn More About Friedrich's Ataxia in People Living in the Gulf Cooperation Council (GCC) Region of the World
In this study, researchers will learn more about a disease called Friedrich's Ataxia, also known as FA. This is known as an "observational" study, which collects health information about study participants without changing their…
- Trial name
- NCT07887828
- Volunteers
- 40 people
- Sponsor
- Biogen
Bronchopulmonary Dysplasia (BPD), Preterm Birth Complication
Parent Perceptions of OptiPAP Junior
To evaluate how different forms of respiratory support affect parent interaction, how parents feel about different methods of support, and how their child's current respiratory support level is perceived in the setting of…
- Conditions
- Bronchopulmonary Dysplasia (BPD), Preterm Birth Complication, Pulmonary, CPAP
- Trial name
- NCT07837700
- Testing
- Nasal CPAP interface: OptiPAP Junior, Nasal CPAP interface: FlexiTrunk
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Sharp HealthCare
Congenital Afibrinogenemia
Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Participants With Congenital Afibrinogenemia
The main objective of this study was to evaluate the pharmacokinetics (PK), efficacy, and safety of human plasma-derived fibrinogen concentrate FIB Grifols after a single-dose 70 milligrams/kilogram (mg/kg) body weight…
- Trial name
- IG0902 (NCT02281500)
- Testing
- Human Plasma-Derived Fibrinogen Concentrate
- Where
- 6 sites in United States, India and 2 more
- Volunteers
- 24 people
- Sponsor
- Grifols Therapeutics LLC
Huntington Disease
Clinical Extension Study for Safety and Efficacy Evaluation of Cellavita-HD Administration in Huntington's Patients.
Cellavita-HD is a stem-cell therapy for Huntington's Disease. Open label, single treatment, extension study for long-term safety and efficacy evaluation of Cellavita-HD intravenous administration in Huntington's disease patients…
- Trial name
- ADORE-EXT (NCT04219241)
- Testing
- Cellavita-HD
- Where
- Brazil
- Volunteers
- 35 people
- Sponsor
- Azidus Brasil
Advanced Malignant Solid Neoplasm, Recurrent Ependymal Tumor
Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well ulixertinib works in treating patients with solid tumors that have spread to other places in the body (advanced), non-Hodgkin lymphoma, or histiocytic disorders that have a…
- Conditions
- Advanced Malignant Solid Neoplasm, Recurrent Ependymal Tumor, Recurrent Ewing Sarcoma, Recurrent Glioma
- Trial name
- NCT03698994
- Testing
- Pharmacokinetic Study, Ulixertinib
- Where
- 107 sites in United States, Puerto Rico
- Volunteers
- 20 people
- Sponsor
- National Cancer Institute (NCI)
Familial Hypercholesterolemia, Adherence, Medication
The Use of Mobile Health Technology and Behavioral Economics to Encourage Adherence in Adolescents
Familial hypercholesterolemia (FH) affects over one million Americans and increases the risk of cardiovascular disease (CVD) by as much as 20-fold.
- Trial name
- NCT04458766
- Testing
- Monetary incentives
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Boston Children's Hospital
Gout Initiating Urate-loweringUrate-lowering Therapy, Gout Arthritis
HLA-B*58:01-Guided Therapy for Gout: Effectiveness, Safety, and Cost-Effectiveness
Severe cutaneous adverse reactions (SCARs), such as Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) and drug reaction with eosinophilia and systemic symptoms (DRESS), are rare but life-threatening complications that…
- Conditions
- Gout Initiating Urate-loweringUrate-lowering Therapy, Gout Arthritis, Gout and Hyperuricemia
- Trial name
- HLA-SCREEN (NCT07369622)
- Testing
- HLA-B*58:01 Genotyping, Allopurinol Tablet, Febuxostat
- Volunteers
- 228 people, healthy volunteers welcome
- Sponsor
- Haiphong University of Medicine and Pharmacy
Glucose Metabolism Disorders in Cystic Fibrosis
Reproducibility of Continuous Glucose Monitoring (CGM) in the Assessment of Glucose Metabolism Disorders in Children With Cystic Fibrosis
Glucose metabolism disorders in cystic fibrosis (CF-GMD) are common and have a negative clinical impact. Screening currently relies on the oral glucose tolerance test (OGTT); however, this procedure is burdensome and complex for…
- Trial name
- CGMUCODIAB (NCT07851831)
- Testing
- Continuous Glucose Monitoring, Eating Habits Questionnaire, Use of an actigraphy watch
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Hospices Civils de Lyon
Myotonic Dystrophy
DM1 Heart Registry - DM1 Respiratory Registry
Myotonic dystrophy type 1 (DM1) is the most frequent neuromuscular disease in adults. DM1 patients have an impaired prognosis (mean age of death <60 years) due to cardiac and respiratory complications.
- Trial name
- DM1-Heart-R (NCT01136330)
- Where
- France
- Volunteers
- 914 people
- Sponsor
- Institut de Myologie, France
Lipodystrophy, Familial Partial
Familial Partial Lipodystrophy Study
Studying patients with rare adipose tissue disorders may help the investigators to better understand the pathophysiology of diabetes and dyslipidemia in relation to adiposity, and thus have an enormous impact on public health.
- Trial name
- FPL (NCT02858830)
- Testing
- High fat mixed meal
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Pes Planus
Plantar Fascia and Achilles Tendon Thickness and Flexibility in Pes Planus
The aim of this study is to examine the plantar fascia and Achilles tendon thickness and flexibility in individuals with pes planus.
- Trial name
- NCT06987422
- Where
- Turkey (Türkiye)
- Volunteers
- 93 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Osteogenesis Imperfecta
Study to Evaluate Efficacy and Safety of Romosozumab Compared With Bisphosphonates in Children and Adolescents With Osteogenesis Imperfecta
The primary objective of this study is to evaluate the effect of romosozumab treatment for 12-months compared with bisphosphonate(s) on the number of clinical fractures at 12-months; the number of any fractures at 12-months and…
- Trial name
- NCT05972551
- Testing
- Romosozumab, Bisphosphonate
- Where
- 65 sites in United States, Australia and 16 more
- Volunteers
- 111 people
- Sponsor
- Amgen
Dermatitis, Atopic
A Study of JNJ-95475939 in the Treatment of Participants With Moderate to Severe Atopic Dermatitis (AD)
The purpose of this study is to evaluate how well JNJ-95475939 works as compared to placebo in participants with moderate to severe atopic dermatitis.
- Trial name
- DUPLEX-AD (NCT06881251)
- Testing
- Dupilumab, JNJ-95475939
- Where
- 71 sites in United States, Argentina and 7 more
- Volunteers
- 256 people
- Sponsor
- Janssen Research & Development, LLC
Pompe Disease (Late-onset), GAA Deficiency
Treatment Frequency Reduction in Pompe Disease
The aim of this study is to assess if dosing frequency reduction of alglucosidase alfa 20 mg/kg once every 2 weeks to once every 4 weeks is safe and does not lead to increased progression of disease in a selected group of…
- Conditions
- Pompe Disease (Late-onset), GAA Deficiency, Glycogen Storage Disease Type II, Acid Maltase Deficiency
- Trial name
- TRIPOD (NCT06575829)
- Testing
- Algucosidase alfa 20 mg/kg once every 4 weeks instead of once every 2 weeks
- Volunteers
- 10 people
- Sponsor
- Erasmus Medical Center
Thalassemia
Safety and Efficacy of Hemoglobin F Inducers in Patients With Beta Thalassemia
The aim of this study is to determine the safety and therapeutic effect of HbF inducers (combination therapy: thalidomide and hydroxyurea) on beta thalassemia patients.
- Trial name
- NCT07673302
- Testing
- Thalidomide, Hydroxy Urea
- Where
- Pakistan
- Volunteers
- 240 people
- Sponsor
- Riphah International University
Huntington Disease
A Randomised Controlled Trial, Of N-Acetyl Cysteine (NAC), for Premanifest Huntingtin Gene Expansion Carriers
NAC-preHD is a phase II randomized placebo controlled study of oral NAC among premanifest HD gene expansion carriers, with clinical and radiological outcome at three years.
- Trial name
- NAC-preHD (NCT05509153)
- Testing
- NAC
- Where
- 5 sites in Australia
- Volunteers
- 160 people
- Sponsor
- Western Sydney Local Health District
Beta-thalassemia Major, Hemosiderosis
Extension Study of the Efficacy and Safety of Deferasirox Treatment in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2-year Duration)
To allow patients treated with deferasirox in the core study to continue iron chelation therapy for 2 years or until the drug became locally commercially available.
- Conditions
- Beta-thalassemia Major, Hemosiderosis, Iron Overload, Rare Anemia
- Trial name
- ESCALATOR (NCT00171301)
- Testing
- Deferasirox
- Where
- 5 sites in Egypt, Lebanon and 3 more
- Volunteers
- 233 people
- Sponsor
- Novartis Pharmaceuticals
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