Clinical trials: Genetic Conditions
Type 3 Von Willebrand's Disease
Type 3 Von Willebrand International Registries Inhibitor Prospective Study
International Registries and Prospective Study on Type 3 Von Willebrand's Disease (VWD3), aimed to assess number, types and risk factors for bleeding and the efficacy and safety of plasma-derived and/or recombinant Von Willebrand…
- Trial name
- 3WINTERS-IPS (NCT02460458)
- Testing
- Von Willebrand Factor
- Where
- 25 sites in Finland, France and 8 more
- Volunteers
- 265 people
- Sponsor
- Fondazione Angelo Bianchi Bonomi
Death, Sudden, Cardiac, Ventricular Fibrillation
DISCOVERY: Diagnostic Data and Genetic Polymorphisms in ICD Patients.
To prospectively evaluate if the analysis of genetic polymorphisms can be used to identify patients at risk of ventricular tachycardia.
- Conditions
- Death, Sudden, Cardiac, Ventricular Fibrillation, Tachycardia, Atrial Fibrillation
- Trial name
- DISCOVERY (NCT00478933)
- Testing
- Defibrillator, Dual Chamber ; Implantable, Blood sampling
- Volunteers
- 1,223 people
- Sponsor
- Medtronic Cardiac Rhythm and Heart Failure
Type 1 Diabetes Mellitus
Study of Human Plasma-Derived Alpha1-Proteinase Inhibitor in Subjects With New-Onset Type 1 Diabetes Mellitus
This is a multicenter, randomized, partial-blinded, five-arm, placebo-controlled study of human plasma-derived alpha1-proteinase inhibitor (alpha1-PI) in children (ages 6-11 years old) and teens/adults (ages 12-35 years old) with…
- Trial name
- NCT02093221
- Testing
- 180 mg/kg Alpha1-PI, 90 mg/kg Alpha1-PI
- Where
- 36 sites in United States
- Volunteers
- 76 people
- Sponsor
- Grifols Therapeutics LLC
Hunter Syndrome
An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients
The objective of this study is to evaluate the effect of anti-idursulfase antibodies on idursulfase safety (measured by infusion related adverse events) between patients who develop anti-idursulfase antibodies and patients who do…
- Trial name
- NCT00882921
- Testing
- Idursulfase
- Where
- 6 sites in United States, Brazil and 1 more
- Volunteers
- 26 people
- Sponsor
- Shire
Diabetes Mellitus, Gout
Pharmacogenetics of SGLT2 Inhibitors
Sodium-dependent glucose transporter-2 (SGLT2) inhibitors are a new class of anti-diabetic drugs, which increase urinary glucose excretion thereby promoting weight loss and decreasing plasma glucose levels.
- Conditions
- Diabetes Mellitus, Gout, Hyperuricemia
- Trial name
- SGLT2iPGx (NCT02462421)
- Testing
- Canagliflozin
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Maryland, Baltimore
Spinocerebellar Ataxias, Spinocerebellar Ataxia Type 1
Troriluzole in Adult Participants With Spinocerebellar Ataxia
The purpose of this study is to compare the efficacy of Troriluzole (200 mg once daily) versus placebo after 48 weeks of treatment in subjects with spinocerebellar ataxia (SCA).
- Conditions
- Spinocerebellar Ataxias, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3
- Trial name
- NCT03701399
- Testing
- troriluzole
- Where
- 23 sites in United States, China
- Volunteers
- 299 people
- Sponsor
- Biohaven Pharmaceuticals, Inc.
Cardiac Amyloidosis
Imaging Cardiac Amyloidosis: A Pilot Study Using F-18 Florbetapir Positron Emission Tomography
The primary aim of this pilot study is to determine whether amyloid deposits in the heart can be measured non-invasively by F-18 florbetapir (Trade Name: Amyvid) positron emission tomography (PET) in 30 individuals with…
- Trial name
- NCT01683825
- Testing
- F-18 florbetapir PET
- Where
- United States
- Volunteers
- 23 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Dermatitis, Atopic
A Study to Assess Immunization Responses in Adult and Adolescent Participants With Moderate-to-Severe Atopic Dermatitis Treated With Nemolizumab
The purpose of this study is to assess the effect of nemolizumab (CD14152) on humoral immune responses to tetanus and meningococcal vaccination in adult and adolescent participants with moderate-to-severe atopic dermatitis (AD).
- Trial name
- NCT04365387
- Testing
- Nemolizumab
- Where
- 64 sites in United States
- Volunteers
- 242 people
- Sponsor
- Galderma R&D
Cystic Fibrosis, Liver Fibrosis
Elastography of the Liver in Cystic Fibrosis Patients. Diagnostic and Prognostic Aspects
The aim of the study is to find CF patients at risk for cystic fibrosis related liver disease (CFLD). Comparison of ultrasound by two modalities and biochemical markers with histological evaluation of liver biopsy if present.
- Trial name
- NCT02603666
- Testing
- Fibroscan
- Volunteers
- 130 people
- Sponsor
- Karolinska University Hospital
Alpha 1-Antitrypsin Deficiency
The Safety and Tolerability of Alpha-1 Modified Process (MP) In Subjects With Alpha-1-antitrypsin (AAT) Deficiency
The purpose of this clinical study is to assess the safety and tolerability of Alpha-1 MP in adult Alpha1-antitrypsin deficient patients.
- Trial name
- STAMP (NCT00301366)
- Testing
- alpha-1 proteinase inhibitor (human)
- Where
- 10 sites in United States, United Kingdom
- Volunteers
- 38 people
- Sponsor
- Grifols Therapeutics LLC
Human Immunodeficiency Virus Infection, Sexually Transmitted Diseases
Men Together Making a Difference: Reducing HIV/STD Risk Behavior Among South African Men
Sub-Saharan Africa has about 10% of the world's population, but was home to more than 60% of all people living with HIV in 2003.
- Trial name
- NCT01490359
- Testing
- Men Making a Difference HIV/STD Risk Reduction Intervention, Health Promotion Control
- Volunteers
- 1,181 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Obesity, Short Stature
Free Fatty Acids, Body Weight, and Growth Hormones Secretion in Children
Background: Overweight and obese children and adults often have lower levels of growth hormone in the blood. Regulation of growth hormone may be tied to weight and free fatty acids in the blood.
- Conditions
- Obesity, Short Stature, Growth Hormone Deficiency
- Trial name
- NCT01237041
- Testing
- Niacin First, Dose-Establishing Study 1 Niacin 250mg, Dose-Establishing Study 1 Niacin 500mg
- Where
- United States
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Prader-Willi Syndrome
Phase 2 Trial to Evaluate Safety and Efficacy of Setmelanotide (RM-493) in Obese Participants With Prader-Willi Syndrome
The purpose of this study was to evaluate the effects of a once daily subcutaneous injectable formulation of setmelanotide in obese participants with Prader-Willi syndrome on tolerability, weight loss, and hyperphagia-related…
- Trial name
- NCT02311673
- Testing
- Setmelanotide
- Where
- 5 sites in United States
- Volunteers
- 40 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Genetic Predisposition
Early Detection of GEnetic Risk (EDGE)
The study intervention involves having patients complete a familial cancer risk assessment survey. Those who are found to be at high risk will be offered genetic testing for a panel of hereditary cancers.
- Trial name
- NCT04746794
- Testing
- Population-level screening
- Where
- 2 sites in United States
- Volunteers
- 20,184 people, healthy volunteers welcome
- Sponsor
- University of Washington
Childhood Acute Lymphoblastic Leukemia in Remission, Childhood Acute Myeloid Leukemia in Remission
Supersaturated Calcium Phosphate Rinse in Preventing Oral Mucositis in Young Patients Undergoing Autologous or Donor Stem Cell Transplant
This randomized phase III trial is studying how well Caphosol rinse works in preventing mucositis in young patients undergoing autologous or donor stem cell transplant.
- Conditions
- Childhood Acute Lymphoblastic Leukemia in Remission, Childhood Acute Myeloid Leukemia in Remission, Childhood Chronic Myelogenous Leukemia, Childhood Myelodysplastic Syndromes
- Trial name
- NCT01305200
- Testing
- supersaturated calcium phosphate rinse, questionnaire administration, quality-of-life assessment
- Where
- 35 sites in United States, Australia and 1 more
- Volunteers
- 226 people
- Sponsor
- Children's Oncology Group
Arthritis, Osteoarthritis
Tanezumab In Osteoarthritis Of The Knee (2)
The purpose of this study is to test the efficacy and safety of 2 doses of tanezumab compared with naproxen and placebo in patients with osteoarthritis.
- Trial name
- NCT00830063
- Testing
- tanezumab 10 mg, tanezumab 5 mg, naproxen
- Where
- 94 sites in United States
- Volunteers
- 832 people
- Sponsor
- Pfizer
Gout Flares
A Proof-of-Concept Study of AC-201 to Prevent Gout Flares
Initiation of ULT for gout increases the occurrence of acute gouty arthritis flares due to mobilization of urate from tissue deposits. IL-1β plays a key role in mediating the inflammatory response in gouty arthritis.
- Trial name
- NCT01712204
- Testing
- AC-201, Febuxostat
- Where
- Taiwan
- Volunteers
- 82 people
- Sponsor
- TWi Biotechnology, Inc.
Myocardiopathies, Ischemia, Myocardial
Extracellular Matrix Marker of Arrhythmia Risk (EMMA)
Assess whether serum levels of MMP 2 and or MMP 9 correlate with episodes of ventricular tachycardia or fibrillation in patients who have implantable cardioverter defibrillator devices.
- Conditions
- Myocardiopathies, Ischemia, Myocardial, Arrythmia, Death, Sudden, Cardiac
- Trial name
- EMMA (NCT00376532)
- Where
- United States
- Volunteers
- 63 people
- Sponsor
- Thomas Jefferson University
Hereditary Tyrosinemia, Type I
Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin
The purpose of this study is to determine whether Nitisinone 10 mg Tablets (Test Product 1 (TP1)) and Nitisinone 10 mg Tablets High Compritol (Test Product 2 (TP2)) are bioequivalent to the reference product Orfadin 10 mg…
- Trial name
- NCT02750709
- Testing
- Nitisinone, Nitisinone 10 mg Tablet High Compritol, Orfadin
- Where
- South Africa
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Cycle Pharmaceuticals Ltd.
Tuberous Sclerosis Complex (TSC), Lymphangioleiomyomatosis (LAM)
Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM)
This study will evaluate the safety and efficacy of RAD001 in treating patients with Angiomyolipoma associated with Tuberous Sclerosis Complex or Sporadic Lymphangioleiomyomatosis.
- Trial name
- EXIST-2 (NCT00790400)
- Testing
- Everolimus (RAD001)
- Where
- 25 sites in United States, Canada and 9 more
- Volunteers
- 118 people
- Sponsor
- Novartis Pharmaceuticals