Clinical trials: Genetic Association Studies
Fibromuscular Dysplasia
Cohort Follow-up of Patients With Renal or Craniocervical Fibromuscular Dysplasia
PROFILE is a cohort study evaluating the progression of fibromuscular dysplasia lesions. This study is the prospective dimension of ARCADIA registry (ClinicalTrials.gov Identifier: NCT02884141), which aims to document phenotypic…
- Trial name
- PROFILE (NCT02961868)
- Testing
- Abdominal and supra-aortic trunks vascular imaging, Blood sampling (genetic), Blood sampling (biomarkers)
- Where
- 17 sites in Belgium, France
- Volunteers
- 340 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Macular Degeneration
A Study of Genetic and Environmental Factors and Their Effect on Response to Treatment With Lucentis (Ranibizumab) for Wet AMD
The purpose of this study is to understand whether genes or certain factors in the environment determine how eyes will respond to Lucentis (ranibizumab) treatment.
- Trial name
- NCT00469352
- Testing
- Ranibizumab
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Oregon Health and Science University
CVI - Common Variable Immunodeficiency
A Study to Evaluate the Benefit of RUCONEST® in Subjects Who Experience ADRs Related to IVIG Infusions
Patients receiving intravenous immunoglobulin (IVIG) therapy for primary immunodeficiency and neurologic conditions may experience adverse drug reactions (ADRs). The mechanism of the ADR is unknown.
- Trial name
- NCT03576469
- Testing
- C1-esterase inhibitor [recombinant] (C1-INH-R)
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- IMMUNOe Research Centers
Gaucher Disease
Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease
The primary purpose of this study is to evaluate the effect of VPRIV therapy (60 units per kilogram [U/kg] every other week [EOW]) in treatment-naive participants with type 1 Gaucher disease on change from baseline in lumbar…
- Trial name
- NCT02574286
- Testing
- Velaglucerase alfa, Vitamin D
- Where
- 15 sites in United States, Israel and 2 more
- Volunteers
- 21 people
- Sponsor
- Shire
Bipolar Disorder
Genetic Predictors of Lithium Response in Bipolar Disorder
The purpose of this study is to identify genetic predictors of lithium response in bipolar disorder.
- Trial name
- NCT00252577
- Testing
- Lithium treatment
- Where
- United States
- Volunteers
- 130 people
- Sponsor
- VA Office of Research and Development
Cystic Fibrosis, Cystic Fibrosis-related Diabetes
A Pilot Study of a Low Glycemic Load Diet in Adults With Cystic Fibrosis
This pilot study will evaluate the safety and tolerability of a low glycemic load dietary intervention in adult patients with cystic fibrosis (CF) in a rigorous feeding study.
- Conditions
- Cystic Fibrosis, Cystic Fibrosis-related Diabetes, Cystic Fibrosis With Intestinal Manifestations
- Trial name
- NCT04519853
- Testing
- Low Glycemic Load Diet
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Boston Children's Hospital
Systemic Lupus Erythematosus
Web-based Genetic Research on Lupus
The goal of this new lupus research study is two-fold: first, to understand the genetic associations found between people's DNA and this disease, and second, to apply this understanding to drug development efforts with the…
- Trial name
- NCT02530944
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- 23andMe, Inc.
Healthy Subjects, Heme Oxygenase
Effects of Heme Arginate in Healthy Male Subjects
Heme oxygenase 1 (HO-1) serves as a protective gene. It has been shown that one factor modulating HO-1 activity is a genetic variation in the HO-1 gene (functional GT length polymorphism in the promotor region).
- Conditions
- Healthy Subjects, Heme Oxygenase, Genetic Polymorphism
- Trial name
- HEMAHS (NCT00682370)
- Testing
- saline solution, heme arginate
- Where
- Austria
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Daniel Doberer
Mitochondrial Myopathy, MELAS Syndrome
Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia
OBJECTIVES: I. Study the metabolism of pyruvate and related problems in patients with lactic acidemia. II. Define the nature of the metabolic defect.
- Conditions
- Mitochondrial Myopathy, MELAS Syndrome, Lactic Acidosis
- Trial name
- NCT00004353
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Center for Research Resources (NCRR)
Genetic Disease, TUBB4A-Related Leukodystrophy
An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy
This current study is aimed for the treatment of an individual participant with a form of TUBB4A-related leukodystrophy with hypomyelination.
- Trial name
- ASOTUBB4A (NCT07222371)
- Testing
- nL-TUBB4-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of California, San Diego
Sickle Cell Disease, Pregnancy Related
LEARNER- Low dosE AspiRiN prEterm tRial (Angola)
This study is being conducted to evaluate the safety and effect of starting daily use of low dose (100 mg) aspirin in pregnant women with sickle cell disease, who are being followed in two county hospitals in Angola, in the first…
- Conditions
- Sickle Cell Disease, Pregnancy Related, Pregnancy Complications, Pre-Eclampsia
- Trial name
- LEARNER (NCT06417411)
- Testing
- Aspirin 100mg
- Where
- Angola
- Volunteers
- 450 people
- Sponsor
- Instituto Nacional de Investigacao em Saude, Angola
Amyloid Cardiomyopathy, Transthyretin-Related
Single and Multiple Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of AG10
This is a single center, prospective, randomized, placebo-controlled study of AG10 in healthy adult subjects
- Trial name
- NCT03294707
- Testing
- AG10 oral tablet
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Homocystinuria
Proof of Concept Creatine Supplementation for Homocystinuria Study
Homocystinuria is a rare and inherited metabolic disorder, people with this condition don't have an enzyme needed to break down an amino acid called homocysteine.
- Trial name
- NCT06495567
- Testing
- Creatine, Dietary methionine tracer and protein intake
- Where
- Canada
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC), Amyloidosis, Hereditary
ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)
The purpose of this study was to evaluate the safety and efficacy of revusiran (ALN-TTRSC) in patients with transthyretin (TTR) mediated Familial Amyloidotic Cardiomyopathy.
- Conditions
- Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC), Amyloidosis, Hereditary, Amyloid Neuropathies, Familial, Amyloid Neuropathies
- Trial name
- NCT02319005
- Testing
- Revusiran (ALN-TTRSC), Sterile Normal Saline (0.9% NaCl)
- Where
- 61 sites in United States, Belgium and 7 more
- Volunteers
- 206 people
- Sponsor
- Alnylam Pharmaceuticals
Type 2 Diabetes Mellitus
The Verona Newly Diagnosed Type 2 Diabetes Study
Type 2 diabetes mellitus is a complex disease whose clinical phenotype results from the variable combination of genetic and nongenetic factors.
- Trial name
- VNDS (NCT01526720)
- Where
- Italy
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- Universita di Verona
Chediak-Higashi Syndrome, Graft Versus Host Disease
Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders
OBJECTIVES: I. Determine the efficacy of unrelated donor hematopoietic stem cell transplantation in the treatment of patients with life threatening hemophagocytic disorders. II.
- Conditions
- Chediak-Higashi Syndrome, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis
- Trial name
- NCT00006056
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Fairview University Medical Center
Neurofibromatosis Type 1
A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas
Treatment Overview This phase II study will evaluate the activity of sirolimus in children and adults with NF1 and inoperable plexiform neurofibromas that have the potential to cause significant morbidity.
- Trial name
- Protocol 102 (NCT00634270)
- Testing
- Sirolimus
- Where
- 9 sites in United States
- Volunteers
- 58 people
- Sponsor
- University of Alabama at Birmingham
Hereditary Angioedemas
A Study Investigating the Effectiveness and Safety of Garadacimab for Treating Patients With Hereditary Angioedema (HAE)
This is a multinational, multicenter, prospective, observational cohort study of patients with HAE in the real-world setting. The study will include patients newly initiating garadacimab in routine clinical practice.
- Trial name
- GREAT (NCT07001280)
- Testing
- No intervention
- Where
- 22 sites in United States, Austria and 3 more
- Volunteers
- 200 people
- Sponsor
- CSL Behring
Chronic Kidney Disease(CKD), Depression
Pharmacogenomics of Mood Disorder in Chronic Kidney Disease Patients
By using genetic information we could predict the prevalence of mood disorder and response to treatment.
- Trial name
- CKD (NCT06675396)
- Testing
- Antidepressants
- Volunteers
- 300 people
- Sponsor
- Wonju Severance Christian Hospital
Transthyretin Amyloidosis, ATTR-CM
Non-interventional Study of Patients With Transthyretin (ATTR) Amyloidosis
The MaesTTRo study aims to enroll a global cohort of patients with transthyretin (ATTR) amyloidosis to longitudinally observe the natural course of the disease and describe real-world treatment patterns and outcomes.
- Conditions
- Transthyretin Amyloidosis, ATTR-CM, ATTRv-PN, ATTR
- Trial name
- MaesTTRo (NCT06465810)
- Testing
- Treatment of transthyretin (ATTR) amyloidosis in observational study setting
- Where
- 89 sites in United States, Canada and 4 more
- Volunteers
- 1,850 people
- Sponsor
- AstraZeneca