Clinical trials: Genetic Conditions
Smith-Lemli-Opitz Syndrome
Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
The purpose of this study is to determine whether supplementation with an oil-based cholesterol suspension will correct the biochemical abnormalities in cholesterol and its precursors in individuals with the Smith-Lemli-Opitz…
- Trial name
- NCT00272844
- Testing
- crystalline cholesterol oil-based suspension
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Boston Children's Hospital
Lower Urinary Tract Symptoms, Bladder Outlet Obstruction
A Study of Mirabegron (YM178) in Men With Lower Urinary Tract Symptoms (LUTS) and Bladder Outlet Obstruction (BOO)
This study examined the safety, tolerability, and efficacy of mirabegron (YM178) compared to placebo.
- Trial name
- NCT00410514
- Testing
- Mirabegron
- Where
- 27 sites in United States, Canada
- Volunteers
- 200 people
- Sponsor
- Astellas Pharma Inc
Atopic Dermatitis, Pruritus
Management of Pruritus With Xyzal in Atopic Dermatitis
It is historically well known that the management of pruritus in atopic dermatitis is very difficult. Most of the patients are not controlled with traditional antihistamines such as Clarinex, Claritin, and Allegra.
- Trial name
- NCT00884325
- Testing
- Levocetirizine dihydrochloride (Xyzal)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Derm Research, PLLC
Genetic Predisposition, Genetic Hypertension
Impact of a Family History of Hypertension and Physical Activity on Left Ventricular Mass
This is a retrospective analysis of data collected within two previous studies. The data has been combined and used to investigate the impact of having a family history of hypertension on left ventricular muscle mass with and…
- Trial name
- NCT05334355
- Testing
- Family history of hypertension
- Volunteers
- 74 people, healthy volunteers welcome
- Sponsor
- Montclair State University
Atopic Dermatitis
A Study to Evaluate the Efficacy, and Safety Study of Ruxolitinib Cream in Adults With Moderate Atopic Dermatitis
This study is being conducted to establish the efficacy of ruxolitinib cream in participants with moderate AD who had an inadequate response to, or are intolerant to, or contraindicated to topical corticosteroid (TCS)s and…
- Trial name
- TRuE-AD4 (NCT06238817)
- Testing
- Ruxolitinib Cream, Vehicle Cream
- Where
- 94 sites in United States, Australia and 12 more
- Volunteers
- 241 people
- Sponsor
- Incyte Corporation
Heart Failure, Coronary Artery Disease
COVID-19 Testing in Underserved and Vulnerable Populations
As part of National Institutes of Health Rapid Acceleration of Diagnostics-Underserved Populations (RADx-UP) program, the goal of the RADxUP study is to develop, test, and evaluate a rapid, scalable capacity building project to…
- Conditions
- Heart Failure, Coronary Artery Disease, Cancer, Chronic Kidney Diseases
- Trial name
- NCT05315908
- Testing
- Community outreach method
- Where
- United States
- Volunteers
- 9,120 people
- Sponsor
- Jesse Nodora
Irritable Bowel Syndrome
Comparison of Rimegepant and Placebo for Pain in IBS
The primary aim of this study is to evaluate the efficacy of rimegepant on abdominal pain scores in participants with non-constipation IBS.
- Trial name
- NCT06221111
- Testing
- Rimegepant 75 MG [Nurtec]
- Where
- United States
- Volunteers
- 39 people
- Sponsor
- Mayo Clinic
Diabetes Mellitus, Type 1
TRIGR - Primary Prevention Study for Type 1 Diabetes in Children at Risk
The Trial to Reduce IDDM in the Genetically at Risk (TRIGR) is an international effort to conduct a primary prevention nutrition trial for type 1 (insulin-dependent) diabetes.
- Trial name
- TRIGR (NCT00179777)
- Testing
- Hydrolysed infant formula, Nonhydrolysed infant formula
- Where
- 18 sites in United States, Australia and 13 more
- Volunteers
- 5,156 people
- Sponsor
- University of Helsinki
Sickle Cell Disease
Acupuncture for Adults With Sickle Cell Disease (SCD): A Feasibility Study
The investigators long-term goal is to demonstrate the effectiveness of acupuncture for the treatment of adults with chronic pain due to sickle cell disease (SCD), a debilitating pain syndrome characterized by acute and chronic…
- Trial name
- NCT04156399
- Testing
- Acupuncture
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Illinois Chicago
Friedreich Ataxia
Neurology Measures in FA Children
The purpose of this study is to identify ways to follow progression of Friedreich's Ataxia (FA) and be able to measure changes over time in children with FA.
- Trial name
- NCT03418740
- Where
- 3 sites in United States
- Volunteers
- 108 people
- Sponsor
- Children's Hospital of Philadelphia
Hemophagocytic Lymphohistiocytosis, Chronic Active Epstein-Barr Virus Infection
Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204)
HLH, HLH-related disorders, Chronic Granulomatous (CGD), HIGM1, Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX) and severe LAD-I represent primary immune disorders that are typically fatal…
- Conditions
- Hemophagocytic Lymphohistiocytosis, Chronic Active Epstein-Barr Virus Infection, Chronic Granulomatous Disease, HIGM-1
- Trial name
- RICHI (NCT01998633)
- Testing
- Hematopoietic Stem Cell Transplant
- Where
- 22 sites in United States, Canada
- Volunteers
- 47 people
- Sponsor
- Medical College of Wisconsin
Cancer
Antithymocyte Globulin, Clofarabine, and Rituximab in Treating Patients After an Unsuccessful Stem Cell Transplant
RATIONALE: Antithymocyte globulin, clofarabine, and rituximab may stop the patient's immune system from rejecting the donor's stem cells when they do not exactly match the patient's blood.
- Trial name
- NCT00617929
- Testing
- anti-thymocyte globulin, rituximab, clofarabine
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Cystic Fibrosis
Safety and Efficacy of Sildenafil in Cystic Fibrosis (CF) Lung Disease
The purpose of this study is to determine whether sildenafil can decrease inflammation in CF lung disease.
- Trial name
- NCT00659529
- Testing
- sildenafil
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- National Jewish Health
Spinocerebellar Ataxias, Spinocerebellar Ataxia Type 1
Troriluzole in Adult Participants With Spinocerebellar Ataxia
The purpose of this study is to compare the efficacy of Troriluzole (200 mg once daily) versus placebo after 48 weeks of treatment in subjects with spinocerebellar ataxia (SCA).
- Conditions
- Spinocerebellar Ataxias, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3
- Trial name
- NCT03701399
- Testing
- troriluzole
- Where
- 23 sites in United States, China
- Volunteers
- 299 people
- Sponsor
- Biohaven Pharmaceuticals, Inc.
Chronic Pancreatitis, Genetic Mutation
An Observational Study on the Natural Course of Chronic Pancreatitis
To explore the impact on genetic and environmental factors for clinical manifestation, and the progression of chronic pancreatitis, including development of pancreatic insufficiency and other complications.
- Conditions
- Chronic Pancreatitis, Genetic Mutation, Smoking, Tobacco, Drinking, Alcohol
- Trial name
- NCT04574297
- Testing
- smoking and alcohol assumption, genetic sequencing
- Volunteers
- 798 people
- Sponsor
- Changhai Hospital
Current or Recent History of Atrial Fibrillation
Genetically Targeted Therapy for the Prevention of Symptomatic Atrial Fibrillation in Patients With Heart Failure
This study is being done to compare the effects of bucindolol hydrochloride (bucindolol) to metoprolol succinate (Toprol-XL) on the recurrence of symptomatic atrial fibrillation/atrial flutter in patients with heart failure who…
- Trial name
- GENETIC-AF (NCT01970501)
- Testing
- bucindolol hydrochloride, metoprolol succinate
- Where
- 97 sites in United States, Canada and 4 more
- Volunteers
- 267 people
- Sponsor
- ARCA Biopharma, Inc.
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
Wolfram Syndrome, Diabetes Mellitus
A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration.
- Conditions
- Wolfram Syndrome, Diabetes Mellitus, Optic Nerve Atrophy, Ataxia
- Trial name
- NCT02829268
- Testing
- dantrolene sodium
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Washington University School of Medicine
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
Migraine
Biomarker and Genetic Predictors of Erenumab Treatment Response
To explore the relationship between clinical response to erenumab and genetic biomarkers
- Trial name
- INTERROGATE (NCT04265755)
- Testing
- Erenumab
- Where
- 2 sites in Denmark, Iceland
- Volunteers
- 1,406 people
- Sponsor
- Amgen