Clinical trials: Genetics
Healthy, no Evidence of Disease
Blood Samples From Healthy Volunteers for Genetic Studies in the East Anglia Region of the United Kingdom
RATIONALE: Studying samples of blood from healthy volunteers in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT00757991
- Testing
- polymorphism analysis, laboratory biomarker analysis, questionnaire administration
- Where
- United Kingdom
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Cancer Research UK
Peutz-Jeghers Syndrome
Efficacy of Rapamycin (Sirolimus) in the Treatment of Peutz-Jeghers Syndrome
A prospective non-randomized open label single arm clinical trial to examine the efficacy and safety of sirolimus in patients with Peutz-Jeghers Syndrome.
- Trial name
- NCT03781050
- Testing
- Rapamycin
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Peking Union Medical College Hospital
Crigler Najjar Syndrome
Immunity Against AAV in Crigler Najjar Patient
The proposed research protocol aims at addressing these points by pre-screening CN patients for their AAV serology in link with their medical history and current medical status.
- Trial name
- NCT02302690
- Testing
- Blood sample for immunology
- Where
- France
- Volunteers
- 49 people
- Sponsor
- Genethon
Sickle Cell Disease, Cerebral Ischemia
Long-term Comparative Cerebrovascular Outcome After Transplantation vs Standard Care in Sickle Cell Anemia
The purpose of the present observational study is to remotely reevaluate the cohort of 67 sickle cell patients with transcranial Doppler-detected cerebral vasculopathy included in the national "Sickle Cell Transplant" protocol…
- Conditions
- Sickle Cell Disease, Cerebral Ischemia, Stenosis
- Trial name
- DREPAGREFFE2 (NCT05053932)
- Testing
- blood collection
- Where
- 14 sites in France
- Volunteers
- 67 people
- Sponsor
- Centre Hospitalier Intercommunal Creteil
Tourette's Syndrome
Ecopipam Treatment of Tourette's Syndrome in Subjects 7-17 Years
Tourette's Syndrome is a neurological disease characterized by motor and vocal tics. It has been hypothesized that abnormal interactions of dopamine with its receptors may cause the tics.
- Trial name
- NCT02102698
- Testing
- Ecopipam
- Where
- 11 sites in United States
- Volunteers
- 40 people
- Sponsor
- Emalex Biosciences Inc.
Acute Myocarditis, Dilated Cardiomyopathies
German Centre for Cardiovascular Research Cardiomyopathy Register
This is a joint project by Heidelberg University and Greifswald University. Our objective is to establish an unique national multi-center registry and biobank of well phenotyped patients with non-ischemic cardiomyopathies (CMP)…
- Conditions
- Acute Myocarditis, Dilated Cardiomyopathies, Hypertrophic Cardiomyopathies, Left Ventricular Myocardial Noncompaction Cardiomyopathy
- Trial name
- TORCH (NCT02187263)
- Where
- Germany
- Volunteers
- 2,300 people
- Sponsor
- Heidelberg University
Gaucher Disease
A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease
This is a multi-center trial to further extend the assessment of the safety and efficacy of taliglucerase alfa in adult subjects (≥18 years old) with Gaucher disease who have enrolled in Protocol PB-06-003.
- Trial name
- NCT01422187
- Testing
- Taliglucerase alfa
- Volunteers
- 19 people
- Sponsor
- Pfizer
Haemophilia
Combining Registry Data in Haemophilia: TARGET H
This is an investigator-initiated, multinational, retrospective, non-interventional pilot study conducted in five haemophilia treatment centres from different geographical regions that maintain a local (Algeria, Malaysia) or…
- Trial name
- TARGET-H (NCT03264014)
- Volunteers
- 100 people
- Sponsor
- University of Pretoria
Down Syndrome
Natural History of Amyloid Deposition in Adults With Down Syndrome
The primary objective of this study is to assess the presence of amyloid in non-demented/functionally stable adults with DS as a function of age, dividing the sample into amyloid-positive and amyloid-negative groups.
- Trial name
- NCT01303133
- Where
- 2 sites in United States
- Volunteers
- 81 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Cystic Fibrosis
A Study to Investigate Cystic Fibrosis Pulmonary Exacerbations and the Lung Microbiome
The present application proposes to study the role the composition of the pediatric CF airway microbiota plays in frequent pulmonary exacerbations in pediatric CF patients.
- Trial name
- NCT05088447
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Stanford University
Cystic Fibrosis
Cystic Fibrosis Related Diabetes
Cystic Fibrosis (CF) is a chronic disease characterized by recurrent pulmonary infections and exocrine pancreatic insufficiency.
- Trial name
- NCT02148978
- Testing
- Saxagliptin
- Where
- Israel
- Volunteers
- 30 people
- Sponsor
- Ram Weiss
Thalassemia, Iron Overload
Evaluation of the Quality of Life in Patients With Chronic Iron Overload Due to Hemoglobinopathies in Greece.
This observational clinical study aims to evaluate the HRQoL of thalassemia patients with iron overload in Greece, who are under treatment with deferasirox based on standard clinical practice.
- Trial name
- FEROUSA (NCT07352878)
- Volunteers
- 150 people
- Sponsor
- Elpen Pharmaceutical Co. Inc.
Congenital Bleeding Disorder, Haemophilia A
Haemophilia Patients With Inhibitors Being Treated for Acute Joint Bleeds
This trial is conducted in Africa, Asia, Europe, Japan, and North and South America. The aim of this trial is to evaluate the safety and efficacy of activated recombinant human factor VII analogue (vatreptocog alfa (activated))…
- Conditions
- Congenital Bleeding Disorder, Haemophilia A, Haemophilia B
- Trial name
- NCT00486278
- Testing
- eptacog alfa (activated), vatreptacog alfa (activated)
- Where
- 45 sites in United States, Argentina and 16 more
- Volunteers
- 51 people
- Sponsor
- Novo Nordisk A/S
High Myopia, Cataract
Shanghai High Myopia Study
The purpose of this study is to evaluate the long-term visual outcome of the cataract surgery using a large-scale and comprehensive database of high myopic cataract and age-related cataract patients.
- Conditions
- High Myopia, Cataract, Visual Outcome, Genetic Anticipation
- Trial name
- NCT03062085
- Testing
- Cataract
- Where
- China
- Volunteers
- 60,000 people
- Sponsor
- Shanghai High Myopia Study Group
Congenital Adrenal Hyperplasia
Global Safety and Efficacy Registration Study of Crinecerfont for Congenital Adrenal Hyperplasia
This is a Phase 3 study to evaluate the efficacy, safety, and tolerability of crinecerfont versus placebo administered for 24 weeks in approximately 165 adult participants with classic CAH due to 21-hydroxylase deficiency.
- Trial name
- CAHtalyst (NCT04490915)
- Testing
- Crinecerfont
- Where
- 70 sites in United States, Austria and 16 more
- Volunteers
- 182 people
- Sponsor
- Neurocrine Biosciences
Hyperlipidemia, Familial Combined
Phase 3 Study to Evaluate the Efficacy and Safety of Omega-3-acids Ethylesters 90 in Type Ⅱb Hyperlipidemia
The purpose of this study is to evaluate the efficacy and safety of combination therapy of omega-3-acids ethylesters 90/Atorvastatin calcium in type Ⅱb hyperlipidemia
- Trial name
- NCT02035215
- Testing
- Atorvastatin 20mg, Omega-3-acids ethylesters 90 4g
- Where
- 4 sites in South Korea
- Volunteers
- 80 people
- Sponsor
- Kuhnil Pharmaceutical Co., Ltd.
Sickle Cell Disease
New Hemolysis Parameters in Sickle Cell Disease
The 6-minute walk (6MWT) test is used in adults and children affected by a wide range of chronic diseases to evaluate their sub-maximal exercise capacity.
- Trial name
- HEMODREP (NCT03040908)
- Volunteers
- 150 people
- Sponsor
- Queen Fabiola Children's University Hospital
Charcot-Marie-Tooth Disease, Hereditary Motor and Sensory Neuropathy IV
A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
Charcot-Marie-Tooth 4J (CMT4J) is a rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to loss of ambulation, respiratory…
- Trial name
- CMT4J (NCT03810508)
- Where
- 2 sites in United States
- Volunteers
- 21 people
- Sponsor
- Neurogene Inc.
Colorectal Neoplasms
A Study of Nivolumab-relatlimab Fixed-dose Combination Versus Regorafenib or TAS-102 in Participants With Later-lines of Metastatic Colorectal Cancer
The purpose of this study is to evaluate relatlimab in combination with nivolumab, administered as a fixed-dose combination (nivolumab-relatlimab FDC, also referred to as BMS-986213) for the treatment of non-microsatellite…
- Trial name
- RELATIVITY-123 (NCT05328908)
- Testing
- Nivolumab-relatlimab FDC, Regorafenib, TAS-102
- Where
- 139 sites in United States, Argentina and 20 more
- Volunteers
- 769 people
- Sponsor
- Bristol-Myers Squibb
Generalized Lipodystrophy
Study of REGN4461, a Leptin Receptor Agonist Antibody, in Patients With Generalized Lipodystrophy
The primary objectives of the study are to estimate the effects of REGN4461 on glycemic parameters in the subset of patients with elevated baseline hemoglobin A1c levels (HbA1c ≥7%) and to estimate the effects of REGN4461 on…
- Trial name
- NCT04159415
- Testing
- Low-Dose REGN4461, High-dose REGN4461
- Where
- 8 sites in United States, Peru and 2 more
- Volunteers
- 16 people
- Sponsor
- Regeneron Pharmaceuticals