Clinical trials: Genetic Association Studies
Multiple Sclerosis, Relapse
Observational Trial Evaluating Elevated Factor VIII Related Labs as a Biomarker for Incomplete Relapse Recovery
Nine Multiple Sclerosis (MS) patients suffering an acute relapse from the outpatient or inpatient settings will be consented to be followed prospectively for three months post relapse, in an effort to identify markers of…
- Trial name
- NCT05926167
- Testing
- blood tests drawn days 1, 8, 22 and 90 of the study
- Volunteers
- 9 people
- Sponsor
- Dignity Health Medical Foundation
Cystic Fibrosis-related Diabetes, Cystic Fibrosis
SGLT2 Inhibitor Therapy in Cystic Fibrosis-related Diabetes
This will be a placebo-controlled, randomized, double blind, crossover study with a 4 week wash out period. Collect pilot data on the safety, tolerability, and feasibility of empagliflozin therapy in overweight/obese patients…
- Trial name
- NCT06149793
- Testing
- Empagliflozin
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- University of Minnesota
Neurofibromatosis Type 1
Pharmacokinetics, Safety and Efficacy of the Selumetinib Granule Formulation in Children Aged ≥1 to <7 Years With NF1-related Symptomatic, Inoperable PN
This study is designed to define a dosing regimen and assess the pharmacokinetics(PK) and safety of the granule formulation; the study will also include descriptive analyses of exploratory efficacy endpoints.
- Trial name
- SPRINKLE (NCT05309668)
- Testing
- Selumetinib granule formulation, Selumetinib capsule formulation
- Where
- 16 sites in United States, Germany and 5 more
- Volunteers
- 36 people
- Sponsor
- AstraZeneca
Entrapment Neuropathy
Study Evaluating Treatment of Forefoot Pain Related to Nerve Entrapment Using the Cryo-Touch III Device
A proof of concept study to evaluate the feasibility of safe and effective treatment through optimization of the Cryo-Touch III Device for temporary relief of pain.
- Trial name
- NCT01753778
- Testing
- Cryo-Touch III Device
- Where
- 2 sites in United States
- Volunteers
- 7 people
- Sponsor
- Pacira Pharmaceuticals, Inc
Diabetic Retinopathy, Macular Degeneration
Advancing Understanding of Transportation Options
This Stage II randomized, controlled, longitudinal trial seeks to assess the acceptability, feasibility, and effects of a driving decision aid use among geriatric patients and providers.
- Conditions
- Diabetic Retinopathy, Macular Degeneration, Glaucoma, Retinitis Pigmentosa
- Trial name
- AUTO (NCT04141891)
- Testing
- Driving Decision Aid, Older Drivers Website
- Where
- 3 sites in United States
- Volunteers
- 529 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Pregnancy Related, Atopic Dermatitis
An Observational Retrospective Cohort Study Being Conducted in Women With Atopic Dermatitis Exposed to Ruxolitinib Cream Versus Topical Corticosteroids During Pregnancy: A US Claims Database Analysis
This study is to assess infant outcomes of women with AD who were exposed to ruxolitinib cream during pregnancy compared with a control cohort of women with AD who were exposed to a topical corticosteroid (TCS) during pregnancy.
- Trial name
- NCT06627335
- Testing
- Ruxolitinib Cream, TCS
- Where
- United States
- Volunteers
- 5,621 people
- Sponsor
- Incyte Corporation
Macular Degeneration
Scotoma Reduction in AMD Patients Treated With Ranibizumab
This is a trial aimed at patients with advanced wet macular degeneration and macular scarring treated wiht intravitreal injections of Lucentis.
- Trial name
- SALVAGE (NCT00467935)
- Testing
- intravitreal injection Lucentis (ranibizumab)
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Retina Research Foundation
Multiple Myeloma
Relating Clinical Outcomes in Multiple Myeloma to Personal Assessment of Genetic Profile
The primary objective of this observational study is to identify the molecular profiles and clinical characteristics that define subsets of myeloma patients during the course of the disease.
- Trial name
- CoMMpass (NCT01454297)
- Where
- 73 sites in United States, Canada and 1 more
- Volunteers
- 1,154 people
- Sponsor
- Multiple Myeloma Research Foundation
Autism Spectrum Disorder
Study of the Genetic Factors Involved in Autism and Related Disorders
The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development.
- Trial name
- Gene&autism (NCT04727489)
- Testing
- DNA from subjects will be stored in the biobank of our study.
- Where
- 6 sites in France
- Volunteers
- 3,800 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Obesity, Over-weight
An Efficacy, Safety, and Pharmacokinetics Study of Beloranib in Obese Subjects With Prader-Willi Syndrome
The purpose of this study is to evaluate the efficacy, safety, and pharmacokinetics for certain doses of beloranib in obese subjects with Prader-Willi Syndrome.
- Conditions
- Obesity, Over-weight, Prader-Willi Syndrome
- Trial name
- NCT01818921
- Testing
- ZGN-440 sterile diluent, 1.2 mg ZGN-440 for injectable suspension, 1.8 mg ZGN-440 for injectable suspension
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Zafgen, Inc.
Neurofibromatosis 1, Diagnoses Disease
Study About Annoucement of the Diagnosis of Neurofibromatosis 1 in de Novo Forms
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. The aim of our study was to evaluate post-traumatic stress disorder (PTSD) in patients and their families following the disclosure of…
- Conditions
- Neurofibromatosis 1, Diagnoses Disease, Post Traumatic Stress Disorder
- Trial name
- NF1 (NCT03298438)
- Where
- France
- Volunteers
- 31 people
- Sponsor
- University Hospital, Brest
Hemophilia A
Patient-reported Outcomes in Subjects Treated With ReFacto AF Routine Prophylaxis
This NIS aims to assess the patient-reported outcomes (PROs) in enrolled subjects
- Trial name
- NCT02718677
- Testing
- Refacto AF
- Sponsor
- Pfizer
Primary Pulmonary Lymphoepithelioma-like Carcinoma
The Chinese Pulmonary Lymphoepithelioma-like Carcinoma Collaboration Study
This retrospective case-control study aims to investigate the genetic mechanisms of primary Pulmonary Lymphoepithelioma-like Carcinoma, identify genetic susceptibility loci associated with its onset, and explore potential…
- Trial name
- CPLCC (NCT06801977)
- Testing
- Genome-wide genotyping
- Where
- 2 sites in China
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Sun Yat-sen University
Retinal Disease, Macular Degeneration
Stem Cell Ophthalmology Treatment Study
This study will evaluate the use of autologous bone marrow derived stem cells (BMSC) for the treatment of retinal and optic nerve damage or disease. http://mdstemcells.com/scots-ii/
- Conditions
- Retinal Disease, Macular Degeneration, Hereditary Retinal Dystrophy, Optic Nerve Disease
- Trial name
- SCOTS (NCT01920867)
- Testing
- RB (Retrobulbar), ST (Subtenon), IV (Intravenous)
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- MD Stem Cells
Cystic Fibrosis, Exocrine Pancreatic Insufficiency
Open-Label Phase III Long-Term Safety Trial of Liprotamase
This is an open-label, single-arm clinical study investigating the long-term safety of ALTU-135 treatment in patients with cystic fibrosis (CF)-related exocrine pancreatic insufficiency (PI).
- Trial name
- DIGEST (NCT00449904)
- Testing
- Liprotamase
- Where
- 39 sites in United States
- Volunteers
- 214 people
- Sponsor
- Anthera Pharmaceuticals
Prader-Willi Syndrome
Effect of Intranasal Oxytocin on Dysphagia in Children and Adolescents With Prader-Willi Syndrome
This phase 2B is designed to test the effectiveness of intranasal Oxytocin on Prader Willi Syndrome (PWS). This is a prospective, multicentre, randomised, double-blind, Phase 2B clinical study planned to include around 24 PWS…
- Trial name
- DYSMOT (NCT05298085)
- Testing
- Oxytocin nasal spray
- Where
- 4 sites in France
- Volunteers
- 25 people
- Sponsor
- University Hospital, Toulouse
Alcoholic Liver Disease, Severe Alcoholic Hepatitis
Study of Genetic Determinants in Alcoholic Hepatitis and Establishment of a Multicenter Prospective Cohort of Patients With Alcoholic Liver Disease
Alcoholic hepatitis carries a risk of high mortality at short term, especially in its severe form. Its diagnosis is confirmed by liver biopsy.
- Conditions
- Alcoholic Liver Disease, Severe Alcoholic Hepatitis, Alcoholic Cirrhosis
- Trial name
- COMADHAA (NCT04106518)
- Where
- 9 sites in France
- Volunteers
- 447 people
- Sponsor
- University Hospital, Lille
Breast Cancer
Bioequivalence ANDA SNP Clinical Study - Raloxifene and Single Nucleotide Polymorphisms
Explore the relationship between drug target ER gene single nucleotide polymorphisms and Raloxifene therapeutic effects in patients with Breast Cancer LCIS, based on Oxford precisely sequencing drug targets' genes.
- Trial name
- Drugs-SNPs (NCT06062810)
- Testing
- Raloxifene - Usual, Raloxifene - Study
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- Han Xu, M.D., Ph.D., FAPCR, Sponsor-Investigator, IRB Chair
Hurler Syndrome, Inherited Metabolic Disorder
BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study
Providing access of BPX-501 gene modified T cells and rimiducid to pediatric patients who do not meet the eligibility criteria of the BP-U-004 study.
- Conditions
- Hurler Syndrome, Inherited Metabolic Disorder, Lysosomal Storage Disorder, Metachromatic Leukodystrophy
- Trial name
- NCT03639844
- Testing
- rivogenlecleucel, rimiducid
- Where
- 2 sites in United States
- Sponsor
- Bellicum Pharmaceuticals
Bipolar Disorder
Genetic Association Study Between GAD1 and Reelin Polymorphisms and GABA/Glutamate MRS in Bipolar Disorder Type 1 and Healthy Controls: SPECGENE PROJECT
Background: The pathophysiological mechanisms of bipolar disorder are not completely clarified and several hypothesis have already been formulated including the role of monoamines, gama amino butyric acid (GABA) and glutamate.
- Trial name
- SPECGENE (NCT01237158)
- Where
- Brazil
- Volunteers
- 140 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo