Clinical trials: Genetic Disorder
Neurofibromatosis 2, Meningioma
AZD2014 In NF2 Patients With Progressive or Symptomatic Meningiomas
The goal of this clinical research study is to learn if the study drug AZD2014 can shrink growing or symptomatic meningiomas.
- Trial name
- NCT02831257
- Testing
- AZD2014
- Where
- 2 sites in United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Healthy Adults, Genetic Predisposition to Disease
Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force
The MilSeq Project is a nonrandomized, prospective pilot study of whole exome sequencing (WES) in the U.S. Air Force. The purpose of this study is to explore the implementation of WES into clinical medical care in the military…
- Trial name
- MilSeq (NCT03276637)
- Testing
- Whole exome sequencing
- Where
- 3 sites in United States
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Hereditary Tyrosinemia, Type I
Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)
The purpose of this study is to determine whether Nitisinone 10 mg Tablets (Test Product 1) and Nitisinone 10 mg Tablets 'Baked' for 6 months @ 40°C/75% RH (Test Product 2) are bioequivalent to the reference product Orfadin 10 mg…
- Trial name
- NCT02750345
- Testing
- Nitisinone, Nitisinone Baked Tablet, Orfadin
- Where
- South Africa
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Cycle Pharmaceuticals Ltd.
Sickle Cell Disease, Vaso-Occlusive Crisis
Adjuvant Low-dose Ketamine in Pediatric Sickle Cell Vaso-occlusive Crisis
Acute vaso-occlusive episodes (VOEs) in sickle cell disease (SCD) are primarily managed with opioids. Tolerance and hyperalgesia to opioids develops due to N-methyl-D-aspartate (NMDA)-receptor mediated activation of the…
- Trial name
- AKTSS (NCT03296345)
- Testing
- Ketamine
- Where
- United States
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Atopic Dermatitis, Ichthyosis Vulgaris
Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris.
- Trial name
- NCT01016106
- Testing
- Buccal Swab
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Northwestern University
Atopic Dermatitis
A Phase I Study of HY209 Gel in Healthy Male Volunteers for Atopic Dermatitis
A randomized, double-blind, placebo-controlled single and multiple dosing, dose escalation phase I clinical trial to investigate the safety/tolerability and pharmacokinetics of HY209 gel after transdermal administration in…
- Trial name
- Shaperon (NCT03492398)
- Testing
- HY209
- Where
- South Korea
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Shaperon
Type 2 Diabetes
Influence of Endothelial Function on Central and Peripheral Causes Of Exercise Impairment in Type 2 Diabetes
This study will evaluate the effects of impaired blood flow regulation on exercise. It will also determine whether the effects are more important in the heart or in the skeletal muscle tissue during exercise.
- Trial name
- InsITE (NCT00786019)
- Testing
- Exercise program, Ascorbic Acid (Vitamin C)
- Where
- United States
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Gaucher Disease
Auto-antibodies Prevalence and CD1 Role in Gaucher Disease
Hypergammaglobulinaemia is frequently observed in type 1 Gaucher disease (GD1), being either polyclonal or monoclonal gammopathies. Polyclonal hypergammaglobulinemia may be related to the presence of autoantibodies.
- Trial name
- NCT02650219
- Testing
- genetic analyses
- Where
- 11 sites in France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Hospital St. Joseph, Marseille, France
Healthy, Chronic Rhinosinusitis With Nasal Polyps
Study Of PF-06817024 In Healthy Subjects, In Patients With Chronic Rhinosinusitis With Nasal Polyps And in Patients With Atopic Dermatitis
The purpose of this study is to evaluate safety, tolerability, pharmacokinetics, and pharmacodynamics of PF-06817024 in healthy volunteers, in participants with chronic rhinosinusitis, with nasal polyps and in participants with…
- Conditions
- Healthy, Chronic Rhinosinusitis With Nasal Polyps, Atopic Dermatitis
- Trial name
- NCT02743871
- Testing
- PF-06817024
- Where
- 20 sites in United States
- Volunteers
- 97 people, healthy volunteers welcome
- Sponsor
- Pfizer
Alzheimers Disease, Dementia
Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation.
The purpose of this study is to assess the safety, tolerability, biomarker and cognitive efficacy of investigational products in subjects who are known to have an Alzheimer's disease-causing mutation by determining if treatment…
- Conditions
- Alzheimers Disease, Dementia, Alzheimers Disease, Familial
- Trial name
- DIAN-TU (NCT04623242)
- Testing
- Gantenerumab, Solanezumab
- Where
- 25 sites in United States, Australia and 6 more
- Volunteers
- 194 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Influenza
Reverse Genetic H9N2 Influenza Vaccine Study in Adults
The purpose of the study is to identify the optimal dose level of a reverse genetic (RG) reassortant H9N2 pandemic influenza vaccine for further product development.
- Trial name
- NCT01320696
- Testing
- Reverse Genetic (RG) reassortant A/H9N2 influenza vaccine
- Where
- 5 sites in United States
- Volunteers
- 353 people, healthy volunteers welcome
- Sponsor
- Alachua Government Services, Inc.
Sickle Cell Disease
Imatinib for Pain in Sickle Cell Anemia
In this protocol, the investigators propose to evaluate the biochemical effects of imatinib on sickle red blood cells (RBCs). Patients will be administered imatinib mesylate orally following the guidelines previously established…
- Trial name
- IMPACT (NCT03997903)
- Testing
- Imatinib Mesylate
- Where
- 2 sites in United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Indiana University
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.
Sickle Cell Disease, Sickle Cell Anemia
Microvascular Blood Flow in Sickle Cell Anemia
Sickle cell disease (SCD) is an inherited blood disorder that causes the red blood cells to change their shape from a round shape to a half-moon/crescent or sickled shape.
- Trial name
- NCT01566890
- Testing
- regadenoson infusion with contrast-enhanced ultrasound, contrast-enhanced ultrasound
- Where
- 2 sites in United States
- Volunteers
- 91 people, healthy volunteers welcome
- Sponsor
- Versiti Blood Health
Parkinson's Disease, Gaucher's Disease
Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease
The investigators are interested in determining if the investigators are able to detect changes in brain chemistry using Magnetic Resonance Spectroscopy (MRS) in individuals with Parkinson's disease (PD), those with Gaucher's…
- Trial name
- NCT01427517
- Testing
- N-acetylcysteine
- Where
- United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
MELAS, LHON
A Dose-escalating Clinical Trial With KH176
Mitochondrial Diseases are rare progressive, multi-system, often early fatal disorders affecting both children and adults. KH176 is a novel chemical entity currently under development for the treatment of inherited mitochondrial…
- Conditions
- MELAS, LHON, Leigh Syndrome, Mitochondrial Disease
- Trial name
- NCT02544217
- Testing
- KH176
- Where
- Belgium
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Khondrion BV
Small Fiber Neuropathy, Fabry Disease
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction.
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Trial name
- NCT02985710
- Testing
- Sudoscan, Skin biopsy, QSART
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Muscular Dystrophies
First Time in Human (FTIH) Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Single and Repeat Doses of GSK3439171A in Healthy Subjects and to Assess Food Effect
The FTIH study with GSK3439171A will evaluate the safety of GSK3439171A in healthy subjects in order to avoid confounding factors due to the disease or concomitant drugs in patients.
- Trial name
- NCT03627494
- Testing
- GSK3439171A
- Where
- United States
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Pancreatic Cancer
Analyzing Childhood Recall Antigens in Patients With Pancreatic Cancer
The investigator is developing an immune therapy against pancreatic cancer. Immune cells, known as "T cells with tumor killing capacity", are involved in this immune therapy.
- Trial name
- NCT03848182
- Testing
- Gemcitabine, TT vaccine booster
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Healthy
Study of PF 04965842 Effect on MATE1/2K Activity in Healthy Participants
This is a Phase 1, randomized, 2 way crossover, open label study of the effect of PF-04965842 on metformin (a probe for MATE1/2K activity) PK in healthy adult participants.
- Trial name
- NCT03796182
- Testing
- Metformin, PF-04965842
- Where
- Belgium
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Pfizer