Clinical trials: Genetic Conditions
Mitochondrial Diseases, Drug Resistant Epilepsy
A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
This is a parallel-arm, double-blind, placebo-controlled study with a screening phase that includes a 28-day run-in phase to establish baseline seizure frequency, followed by a 24-week, randomized, placebo-controlled phase.
- Conditions
- Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Leigh Syndrome
- Trial name
- MIT-E (NCT04378075)
- Testing
- Vatiquinone
- Where
- 27 sites in United States, Canada and 7 more
- Volunteers
- 68 people
- Sponsor
- PTC Therapeutics
Breast Neoplasms, Prostate Neoplasms
PF-06952229 Treatment in Adult Patients With Advanced Solid Tumors
A Phase 1 dose escalation and expansion study evaluating safety, tolerability and pharmacokinetics of PF-06952229 in adult patients with advanced solid tumors.
- Conditions
- Breast Neoplasms, Prostate Neoplasms, Neoplasms, Squamous Cell, Melanoma
- Trial name
- NCT03685591
- Testing
- PF-06952229, Enzalutamide
- Where
- 15 sites in United States
- Volunteers
- 49 people
- Sponsor
- Pfizer
Retinitis Pigmentosa, Visual Impairment
Environmental Localization Mapping and Guidance for Visual Prosthesis Users
This study is driven by the hypothesis that independent navigation by blind users of visual prosthetic devices can be greatly aided by use of an autonomous navigational aid that provides information about the environment and…
- Conditions
- Retinitis Pigmentosa, Visual Impairment, Visual Prosthesis
- Trial name
- SLAM (NCT04359108)
- Testing
- Navigation system mode: Argus Vision, Navigation system mode: Depth Vision, Navigation system mode: Depth Vision with Haptic / Audio
- Where
- 2 sites in United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Non-Neoplastic Hematologic and Lymphocytic Disorder
Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders
This phase II clinical trial studies how well treosulfan and fludarabine phosphate with or without low dose radiation before donor stem cell transplantation works in treating patients with nonmalignant (noncancerous) diseases.
- Trial name
- NCT00919503
- Testing
- Allogeneic Bone Marrow Transplantation, Anti-Thymocyte Globulin, Cyclosporine
- Where
- 6 sites in United States
- Volunteers
- 98 people
- Sponsor
- Fred Hutchinson Cancer Center
Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia
Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
The overall objective of this drug trial is to determine whether the treatment of acute hyperammonemia with N-carbamyl-L-glutamate (NCG, Carglumic acid) in propionic acidemia (PA), methylmalonic acidemia (MMA), late-onset CPS1…
- Conditions
- Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia, Carbamoyl-Phosphate Synthase I Deficiency Disease, Ornithine Carbamoyltransferase Deficiency
- Trial name
- STO (NCT01599286)
- Testing
- Carbaglu
- Where
- 9 sites in United States
- Volunteers
- 35 people
- Sponsor
- Mendel Tuchman
Weight Loss
Engaging Rural Men With Mobile Technologies for Weight Loss
Overweight and obese men in rural Northeast Nebraska are an unrepresented, at-risk group exhibiting rising rates of cardiovascular disease, poor access to preventive care, and a rural milieu that contributes to their sedentary…
- Trial name
- NCT03329079
- Testing
- Mobile Technology Plus, Mobile Technology
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Nebraska
Osteoporosis
An Efficacy and Safety Trial of Intravenous Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids
This study was designed to evaluate the efficacy and safety of zoledronic acid compared to placebo in osteoporotic children treated with glucocorticoids
- Trial name
- NCT00799266
- Testing
- Zoledronic acid
- Where
- 12 sites in Australia, Canada and 4 more
- Volunteers
- 34 people
- Sponsor
- Novartis Pharmaceuticals
Unverricht-Lundborg Disease
Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and Adults
The study will compare the efficacy and safety of Brivaracetam with placebo in patients with Unverricht- Lundborg Disease (ULD).
- Trial name
- NCT00368251
- Testing
- BRV 2.5 mg, BRV 25 mg, BRV 50 mg
- Where
- 18 sites in United States, Canada and 6 more
- Volunteers
- 56 people
- Sponsor
- UCB Pharma
Alpha-1 Antitrypsin Deficiency
Phase II, Safety and Efficacy Study of Kamada-alpha-1-antitrypsin (AAT) for Inhalation"
To evaluate different doses of "Kamada-AAT for Inhalation" on the levels of alpha 1-proteinase inhibitor and other analytes in epithelial lining fluid (ELF) and serum and to assess the safety of the treatment in subjects with AAT…
- Trial name
- NCT02001688
- Testing
- Kamada-AAT for Inhalation, 80mg, Kamada-AAT for Inhalation, 160mg
- Where
- 2 sites in United States
- Volunteers
- 36 people
- Sponsor
- Kamada, Ltd.
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.
Bone Marrow Failure Syndrome, Thalassemia
Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
In this study, the investigators test 2 dose levels of thiotepa (5 mg/kg and 10 mg/kg) added to the backbone of targeted reduced dose IV busulfan, fludarabine and rabbit anti-thymocyte globulin (rATG) to determine the minimum…
- Conditions
- Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia
- Trial name
- NCT03513328
- Testing
- Thiotepa--single daily dose, Thiotepa--escalated dose
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Florida
Urge Urinary Incontinence
Understanding the Response to Fesoterodine Through Genetic Evaluation in the Elderly (URGE)
Urge urinary incontinence, characterized by unpredictable and embarrassing large volume urine leakage, is a major health issue for elderly women, as it is incredibly common and significantly impairs quality of life.
- Trial name
- URGE (NCT01786967)
- Testing
- Fesoterodine Fumarate
- Where
- United States
- Volunteers
- 61 people
- Sponsor
- University of North Carolina, Chapel Hill
Gout and Hyperuricemia
Phase II Dose Finding Study of RDEA3170 Versus Placebo in Japanese Patients With Gout or Asymptomatic Hyperuricemia
This study is to examine the hypothesis that administration of RDEA3170 to Japanese patients with gout or asymptomatic hyperuricemia in doses of 5 mg, 7.5 mg, 10 mg, 12.5 mg and 15 mg once daily, respectively will result in…
- Trial name
- NCT02078219
- Testing
- RDEA3170, Allopurinol
- Where
- 14 sites in Japan
- Volunteers
- 204 people
- Sponsor
- AstraZeneca
Huntington Disease, Chorea
Risperidone for the Treatment of Huntington's Disease Involuntary Movements
The purpose of this study is to assess the safety and benefit of risperidone for the treatment of chorea (involuntary movements) in Huntington's disease.
- Trial name
- NCT04201834
- Testing
- Risperidone, BioStamp nPoint device
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Rochester
Neurofibromatosis 1, Chronic Pain
Innovation in the Treatment of Persistent Pain in Adults With NF1: Implementation of the iCanCope Mobile Application- Clinical Trial
To demonstrate the initial feasibility and determine preliminary impact on clinical outcomes of the iCanCope-NF program in a pilot RCT.
- Trial name
- NCT04561765
- Testing
- iCanCope, iCanCope+Contingency Management
- Where
- United States
- Volunteers
- 122 people
- Sponsor
- Yale University
Genetic Diseases, Genetic Syndrome
Perinatal Precision Medicine
This study will seek to determine if rapid genomic sequencing improves outcomes for acutely ill infants. The investigator will enroll up to 1,000 acutely ill infants in a prospective, randomized, blinded study to either rapid…
- Conditions
- Genetic Diseases, Genetic Syndrome, Mendelian Disorders
- Trial name
- NSIGHT2 (NCT03211039)
- Testing
- Genomic sequencing and molecular diagnostic results, if any.
- Where
- United States
- Volunteers
- 213 people
- Sponsor
- Rady Pediatric Genomics & Systems Medicine Institute
Neurofibromatosis Type 1, Precancerous Condition
Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas
RATIONALE: Drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die. Combining methotrexate with vinblastine may be effective treatment for neurofibromatosis type 1 associated…
- Trial name
- NCT00030264
- Testing
- Methotrexate, Vinblastine
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Children's Hospital of Philadelphia
Wiskott-Aldrich Syndrome, Thrombocytopenia
Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (WAS) Patients
The purpose of this project is to describe the pathophysiology of thrombocytopenia and bleeding in patients with Wiskott-Aldrich Syndrome (WAS) and determine the response to thrombopoietic agents in vitro and in vivo.
- Conditions
- Wiskott-Aldrich Syndrome, Thrombocytopenia, Bleeding
- Trial name
- WAS (NCT00909363)
- Testing
- Promacta, blood drawing in patients with WAS, blood drawing in healthy controls
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
Seemingly Healthy, Genetic Predisposition to Disease
Return of Genomic Results and Aggregate Penetrance in Population-Based Cohorts
The PopSeq Project is a prospective cohort study that will develop and implement a genomic return of results (gRoR) process in the Framingham Heart Study (FHS) and Jackson Heart Study (JHS) cohorts and explore associated medical…
- Trial name
- PopSeq (NCT04196374)
- Testing
- Genomic Sequencing
- Where
- 2 sites in United States
- Volunteers
- 7,603 people
- Sponsor
- Brigham and Women's Hospital