Clinical trials: Genetic Conditions
Emphysema, Alpha 1-antitrypsin Deficiency (AATD)
Safety and Pharmacokinetics of Alpha-1 Proteinase Inhibitor in Subjects With Alpha1-Antitrypsin Deficiency
This is a study to assess the safety and pharmacokinetics of weekly infusions of 120 mg/kg of Prolastin-C (alpha1-proteinase inhibitor [alpha1-PI] [Human]), compared to weekly infusions of 60 mg/kg of Prolastin-C in patients with…
- Trial name
- SPARK (NCT01213043)
- Testing
- Prolastin-C, 60 mg/kg, Prolastin-C, 120 mg/kg
- Where
- 5 sites in United States
- Volunteers
- 30 people
- Sponsor
- Grifols Therapeutics LLC
Diabetes Mellitus, Type 1
A Research Trial of Aralast in New Onset Diabetes (RETAIN)
The drug Alpha-1 Antitrypsin (AAT, Aralast NP) is being tested in this study as an anti-inflammatory drug (a medication that decreases inflammation, which is part of the body's normal ability to fight infection and respond to…
- Trial name
- RETAIN (NCT01183468)
- Testing
- Aralast NP 45 mg dose, Aralast NP 90 mg dose, Aralast NP 180 mg dose
- Where
- 15 sites in United States
- Volunteers
- 17 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Gout, Hyperuricemia
Open Label PK, PD and DDI of Dotinurad and Allopurinol in Gout Patients With Hyperuricemia
A open label multi-center 3-period multidose, PK/PD and drug-drug interaction (DDI) study to evaluate the pharmacokinetics (PK) and pharmacodynamics (PD) of 7 days of treatment with two doses of dotinurad monotherapy, and to…
- Trial name
- NCT06056570
- Testing
- dotinurad, dotinurad + allopurinol, allopurinol
- Where
- 4 sites in United States
- Volunteers
- 20 people
- Sponsor
- Urica Therapeutics Inc.
Ataxia, Cerebellar, Cerebellar Ataxia
Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia
Neurodegenerative cerebellar ataxias represent a group of disabling disorders for which we currently lack effective therapies. Cerebellar transcranial direct current stimulation (tDCS) is a non-invasive technique, which has been…
- Conditions
- Ataxia, Cerebellar, Cerebellar Ataxia, Spinocerebellar Ataxias, Ataxia, Spinocerebellar
- Trial name
- CStDCSAtaxia (NCT03120013)
- Testing
- Anodal cerebellar and cathodal spinal tDCS
- Where
- Italy
- Volunteers
- 21 people
- Sponsor
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
Cerebellar Ataxia, Spinocerebellar Ataxias
Using Real-time fMRI Neurofeedback and Motor Imagery to Enhance Motor Timing and Precision in Cerebellar Ataxia
The aim of the research is to improve motor function in people with cerebellar ataxia by using neuroimaging methods and mental imagery to "exercise" motor networks in the brain.
- Conditions
- Cerebellar Ataxia, Spinocerebellar Ataxias, Cerebellar Degeneration
- Trial name
- NCT05436262
- Testing
- Real-time fMRI with neurofeedback of motor imagery
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Johns Hopkins University
Cryopyrin-Associated Periodic Syndromes, Familial Cold Autoinflammatory Syndrome
Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease
This will provided long-term safety and efficacy data for ACZ885 (a fully human anti-interleukin-1β [anti-IL-1β] monoclonal antibody) given as an injection subcutaneously in patients who participated in the CACZ885A2102…
- Conditions
- Cryopyrin-Associated Periodic Syndromes, Familial Cold Autoinflammatory Syndrome, Muckle Wells Syndrome, Neonatal Onset Multisystem Inflammatory Disease
- Trial name
- NCT00685373
- Testing
- Canakinumab (ACZ885)
- Where
- 28 sites in United States, Belgium and 7 more
- Volunteers
- 166 people
- Sponsor
- Novartis
Osteoarthritis, Postoperative Pain
Acute Pain Genomic Study
In preparation for future large-scale genome wide association studies, reliable methods must be developed for measuring perceived pain and for estimating the effects of potentially confounding factors such as appropriate…
- Trial name
- NCT01557751
- Testing
- Whole blood for genotyping
- Where
- United States
- Volunteers
- 156 people
- Sponsor
- University of Pittsburgh
Alpha-1 Antitrypsin Deficiency (AATD)
A Phase 1 Research Study to Evaluate Safety, Tolerability, and Pharmacokinetics of WVE-006 in Healthy Participants With Wild-type AAT Expression (RestorAATion-1)
This study is the first study in the RestorAATion clinical program. The purpose of this first-in human (FIH), double-blind, randomized, placebo-controlled, single ascending dose (SAD) and multiple-dose Phase 1 study is to assess…
- Trial name
- RestorAATion-1 (NCT06186492)
- Testing
- WVE-006
- Where
- United Kingdom
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- Wave Life Sciences USA, Inc.
Atopic Dermatitis
Tolerance and Efficacy of Formulation 609580 20 Versus Formulation 609209 in Children With Atopic Dermatitis
Atopic dermatitis is one of the most frequent skin diseases. The disease is often worst during winter months when the skin is drier. Mild to moderate cases of atopic dermatitis are often controlled by a moisturizer alone.
- Trial name
- NCT00931411
- Testing
- Formulation 609580 20, Formulation 609209 (Lipikar Baume)
- Where
- 5 sites in Canada
- Volunteers
- 73 people
- Sponsor
- Cosmetique Active International
Benign Breast Disease, Fibrocystic Disease of Breast
Effects of Tamoxifen in Premenopausal Women With Benign Breast Disease Not at High-Risk of Developing Breast Cancer
The purpose of the study is to determine the efficacy and relapse rate of low dose, short duration treatment with tamoxifen in benign breast disease amenable to hormonal therapy with respect to etiology and estrogen receptor…
- Conditions
- Benign Breast Disease, Fibrocystic Disease of Breast, Fibroadenoma, Mastalgia
- Trial name
- NCT00999921
- Testing
- Tamoxifen, Evening Primrose Oil
- Where
- India
- Volunteers
- 256 people
- Sponsor
- Medical College and Hospital Kolkata
Sickle Cell Disease
Bone Marrow Transplantation in Young Adults With Severe Sickle Cell Disease
This is a Phase II, single arm, multi-center trial. It is designed to estimate the efficacy and toxicity of hematopoietic stem cell transplantation (HSCT) in patients with sickle cell disease (SCD) who have high risk features.
- Trial name
- STRIDE (NCT01565616)
- Testing
- Conditioning Regimen with Bone Marrow Transplant
- Where
- 8 sites in United States
- Volunteers
- 22 people
- Sponsor
- Emory University
Bardet Biedl Syndrome (BBS), Alström Syndrome (AS)
Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity
This pivotal, phase 3 study is designed to confirm the efficacy and safety of setmelanotide, a potent melanocortin receptor type 4 (MC4R) agonist, for the treatment of obesity and hyperphagia in participants with Bardet Biedl…
- Trial name
- NCT03746522
- Testing
- Setmelanotide
- Where
- 12 sites in United States, Canada and 4 more
- Volunteers
- 52 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Anemia, Iron Deficiency
Is Iron Deficiency the Cause of Anemia Among Women in Cambodia?
Globally, the most common cause of anemia is thought to be iron deficiency anemia (IDA). This was assumed to be the major cause of anemia in Cambodia, because Cambodian diets, which consist mainly of rice, lack iron-rich animal…
- Conditions
- Anemia, Iron Deficiency, Hemoglobin Disorder, Infection
- Trial name
- NCT02481375
- Testing
- Multiple micronutrients, Iron
- Where
- Cambodia
- Volunteers
- 809 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Vulvar Lichen Sclerosus
The CO2RE® System for Vulvar Lichen Sclerosus
Subjects with vulvar lichen sclerosus (VLS) will undergo fractional carbon dioxide (CO2) laser treatment to the vulvar area. Subjects will be evaluated for changes in clinical signs and architectural changes associated with VLS…
- Trial name
- NCT04148651
- Testing
- The CO2RE® System
- Where
- 4 sites in United States
- Volunteers
- 14 people
- Sponsor
- Candela Corporation
Adrenal Insufficiency, Cirrhosis
Is Adrenal Insufficiency Under-diagnosed in Hospitalized Cirrhosis Patients?
The hepatoadrenal syndrome has been well described in the literature and is known to be associated with poorer outcomes in both stable and critically ill cirrhotic patients.
- Conditions
- Adrenal Insufficiency, Cirrhosis, Spur Cell Anemia, Lecithin Acyltransferase Deficiency
- Trial name
- NCT03368066
- Testing
- Cosyntropin
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of Virginia
Cystic Fibrosis
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 12 Years and Older With the G551D Mutation
The purpose of this study was to evaluate the efficacy and safety of ivacaftor in subjects with cystic fibrosis aged 12 years and older who have the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR)…
- Trial name
- STRIVE (NCT00909532)
- Testing
- Ivacaftor
- Where
- 65 sites in United States, Australia and 6 more
- Volunteers
- 167 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
Multicenter Study of Patient-reported Gastrointestinal Symptoms in People With Cystic Fibrosis
This is a prospective, multicenter, observational study designed to collect gastrointestinal related data in patients with Cystic Fibrosis (CF).
- Trial name
- GALAXY (NCT03801993)
- Where
- 26 sites in United States
- Volunteers
- 402 people
- Sponsor
- Chris Goss
Atrial Fibrillation, Deep Vein Thrombosis
Randomized Trial of Interventions to Improve Warfarin Adherence
The purpose of this research study is to see if a lottery which provides the opportunity to win money, a reminder system using a "Med-eMonitor", or the combination of both might be useful in helping patients to achieve better…
- Conditions
- Atrial Fibrillation, Deep Vein Thrombosis, Dilated Cardiomyopathies
- Trial name
- WIN3 (NCT00904982)
- Testing
- Financial Incentive and Med-eMonitor, 2Med-eMonitor
- Where
- 2 sites in United States
- Volunteers
- 268 people
- Sponsor
- University of Pennsylvania
Hyperuricemia, Gout
Magnetic Resonance Imaging in Subjects With Gouty Tophi
The purpose of this study is to determine the reproducibility of Magnetic Resonance Imaging (MRI) in the quantitative assessment of tophus volume.
- Trial name
- NCT00174954
- Testing
- MRI
- Volunteers
- 32 people
- Sponsor
- Takeda
Peutz-Jeghers Syndrome
Pilot Study of mTOR Inhibitor Therapy in Peutz-Jeghers Syndrome
Pilot study, Open-label, Phase II study of Everolimus. Objective: To determine if Everolimus can diminish large gastrointestinal polyps in patients with Peutz-Jeghers Syndrome.
- Trial name
- NCT00811590
- Testing
- Everolimus
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- University of Utah