Clinical trials: Genetic Conditions
Rare Genetic Disease, Undiagnosed Diseases
Research for Individualized Therapeutics in Rare Genetic Disease
The purpose of this research study is to identify individuals that have a rare genetic disease without an adequate therapeutic strategy that might be treatable with drug developed to target the disease-causing genetic alteration.
- Trial name
- NCT05236595
- Testing
- Individualized drug matching per genetic disease
- Where
- 3 sites in United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Pain, Genetic Change
COMT and OPRM1 Polymorphisms and Their Effect on Post-Operative Pain in Children
The goal of this observational study is to investigate whether the A118G single-nucleotide polymorphism (SNP) in the mu-opioid receptor1(OPRM1) and Catechol-O-methyltransferase (COMT) SNPs influence postoperative pain scores in…
- Conditions
- Pain, Genetic Change, Children, Only
- Trial name
- NCT06777875
- Where
- Lebanon
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- American University of Beirut Medical Center
Alpha 1-Antitrypsin Deficiency
Epigenetic Regulation of Immunity in Alpha-1 Anti-trypsin Deficiency
The investigators hypothesize that environmentally influenced histone modifications regulate AM mediated inflammation, contributing to a variable clinical course of AATD, and may also influence or be influenced by the activity of…
- Trial name
- AATD_Epi (NCT02691611)
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- National Jewish Health
Diabetes Mellitus, Type 2, Metagenome
Study of the Genome, Gut Metagenome and Lifestyle of Patients With Incident Type 2 Diabetes Mellitus
A case-control study to identify microbiome and genetic differences between healthy people and patients with incident type 2 diabetes mellitus.
- Conditions
- Diabetes Mellitus, Type 2, Metagenome, Genetic Predisposition
- Trial name
- NCT04113239
- Testing
- 16S rRNA gene sequencing, DNA-microarray genotyping
- Where
- Russia
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Atlas Biomed
Bioequivalence
Bioequivalence Study of Metformin 1000 mg Tablets Immediate Release (IR) Versus Glucophage® 1000 mg Tablets IR In Healthy Subjects
Bioequivalence Study of 2 formulation of metformin (Metformin GEROPHARM vers. Glucophage® Merck )
- Trial name
- NCT03458208
- Testing
- Metformin, Glucophage®
- Where
- Russia
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Geropharm
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
The primary objective of this multicenter observational registry is to characterize the clinical, epidemiological, and biological profiles of individuals of Middle Eastern, North African, and Levantine ancestry, including…
- Conditions
- Antiphospholipid (aPL)-Positive, Rheumatic Arthritis, Celiac Disease, Focal Segmental Glomerulosclerosis (FSGS)
- Trial name
- MERIT (NCT07892651)
- Where
- Jordan
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Axiom Bioregistry
Chronic Pain
Genetic Determinants of Amitriptyline Efficiency for Pain Treatment - Part II
Low dose tricyclic antidepressant drugs are routinely administered co-analgesics in pain medicine. Amitriptyline is largely considered as a gold standard. Amitriptyline underlies cytochrome CYP2D6 and CYP2D19 metabolism.
- Trial name
- NCT02256956
- Testing
- Amitriptyline, Tolterodine
- Where
- Switzerland
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Aneuploidy, Mosaicism
Pregnancy and Developmental Outcomes After Transfer of Reportedly Aneuploid or Mosaic Embryos
To determine how often embryos reported to be abnormal by preimplantation genetic testing result in liveborn infants. To evaluate whether the pregnancies that result from these embryos are higher risk for complications and…
- Conditions
- Aneuploidy, Mosaicism, Pregnancy Outcome
- Trial name
- TAME (NCT04109846)
- Testing
- Non-euploid embryo transfer, Euploid Transfer
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Stanford University
Autoinflammatory Diseases, Hereditary
Immunome Project Consortium for Autoinflammatory Disorders
Rare systemic auto inflammatory diseases are a group of diseases that can be inherited and have non specific symptoms (fevers, rashes, joint pain, etc.).
- Trial name
- ImmunAID (NCT03919110)
- Testing
- Collection of biological samples
- Where
- France
- Volunteers
- 612 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Overweight, Obese
Inflammation, Polyphenols, and Genetics
Pilot study to determine whether daily consumption of blackraspberry powder (high in polyphenols) can reduce markers of inflammation and to determine whether genetics influence baseline levels of inflammatory markers as well as…
- Trial name
- NCT01568827
- Testing
- Blackraspberry Slurry
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Ohio State University
Spasmodic Dysphonia, Singer's Dystonia
Brain Networks in Dystonia
To date, there is only limited knowledge about the distinct neural abnormalities that lead to the development of different forms of focal dystonia.
- Conditions
- Spasmodic Dysphonia, Singer's Dystonia, Writer's Cramp, Musician's Focal Hand Dystonia
- Trial name
- NCT03042962
- Testing
- MRI, Blood draw
- Where
- United States
- Volunteers
- 141 people, healthy volunteers welcome
- Sponsor
- Massachusetts Eye and Ear Infirmary
Hemianopia, Hemianopsia
Collision Warning Device for Blind and Visually Impaired
This study evaluates a novel collision warning device to help people with severe vision impairment or blindness avoid collisions with obstacles.
- Conditions
- Hemianopia, Hemianopsia, Peripheral Visual Field Defect, Blindness
- Trial name
- NCT03057496
- Testing
- Collision warning device
- Where
- United States
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- Massachusetts Eye and Ear Infirmary
Vitamin D Deficiency, Sarcopenia
Vitamin D Deficiency and Body Composition in the Patients With Hemophilia
Hemophilia is associated with osteoporosis and increased prevalence of low bone mineral density (BMD). Many clinical risk factors have been reported, such as hemophilic arthropathy, reduced physical activity, decreased sun…
- Conditions
- Vitamin D Deficiency, Sarcopenia, Osteoporosis, Body Composition
- Trial name
- NCT05517070
- Where
- Taiwan
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Tsung-Ying Li
Autosomal Dominant Polycystic Kidney Disease (ADPKD), Advanced-Chronic Kidney Disease (CKD)
Establishment of the Human Intestinal and Salivary Microbiota Biobank - Kidney Diseases
This is a prospective, clinical, multicentre study aimed to collect biological samples and study microbiota from subjects suffering from chronic kidney disease and from healthy volunteers.
- Conditions
- Autosomal Dominant Polycystic Kidney Disease (ADPKD), Advanced-Chronic Kidney Disease (CKD), Diabetic Kidney Disease (DKD), IgA Nephropathy (IgAN)
- Trial name
- BIOMIS-Nefro (NCT04689074)
- Testing
- Biological sample collection, Questionnaire, Medical examination
- Where
- 2 sites in Italy
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari
Ataxia Telangiectasia, Dysmetria
Videoocular Assessment of Eye Movement Activity in an Ataxia Telangiectasia
Ataxia-telangiectasia (A-T) is a multisystem auto-somal recessive disorder linked to the A-T mutated gene (ATM) on chromosome 11q22-23, and characterized by progressive neural degeneration, immunodeficiency, and progressive…
- Trial name
- NCT05471310
- Where
- Russia
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Rare Diseases, Aniridia
Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
The cross-sectional observational clinical study related to rare eye diseases is a multi-center study in which the hypothesis is that neurokinin 1 receptor and/or substance P expression is increased in REDs associated with…
- Conditions
- Rare Diseases, Aniridia, Neurotrophic Keratopathy, Limbal Stem Cell Deficiency
- Trial name
- NCT06412718
- Volunteers
- 274 people, healthy volunteers welcome
- Sponsor
- IRCCS Ospedale San Raffaele
Myocarditis, Ventricular Arrhythmia
Role of Endomyocardial Biopsy and Aetiology-based Treatment in Pediatric Patients with Inflammatory Heart Disease in Arrhythmic and Non-arrhythmic Clinical Presentations: an Integrated Approach for the Optimal Diagnostic and Therapeutic Management (MYOPED)
Myocarditis is a complex inflammatory disease, usually occurring secondary to viral infections, autoimmune processes or toxic agents.
- Conditions
- Myocarditis, Ventricular Arrhythmia, Inflammatory Cardiomyopathy, Genetic Predisposition
- Trial name
- MYOPED (NCT06591260)
- Testing
- support treatment, cardiac medical treatment, aetiology-specific treatment, device implant, arrhythmia ablation
- Where
- Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Scientific Institute San Raffaele
Prediabetes, Weight Loss
Diabetes Prevention Through Genetics, Familial History and Behavior Change
The goal of this clinical trial is to learn if adding a family engagement component to the standard Diabetes Prevention Program (DPP) improves outcomes for adults with prediabetes.
- Trial name
- NCT07815236
- Testing
- LEGACY DPP, DPP
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Morehouse School of Medicine
Pancreatic Cancer, Thyroid Cancer
Integrated Cancer Repository for Cancer Research
The iCaRe2 is a multi-institutional resource created and maintained by the Fred \& Pamela Buffett Cancer Center to collect and manage standardized, multi-dimensional, longitudinal data and biospecimens on consented adult cancer…
- Conditions
- Pancreatic Cancer, Thyroid Cancer, Lung Cancer, Esophageal Cancer
- Trial name
- iCaRe2 (NCT02012699)
- Where
- 42 sites in United States
- Volunteers
- 999,999 people, healthy volunteers welcome
- Sponsor
- University of Nebraska
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