Clinical trials: Genetic Variation, open to volunteers
Hypophosphatasia
The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia in Russia
The effect of monoallelic variants in the ALPL gene on the natural course of hypophosphatasia (HPP) in children and adults in Russia (ATLANTIS)
- Trial name
- ATLANTIS (NCT07390240)
- Where
- 4 sites in Russia
- Volunteers
- 55 people
- Sponsor
- AstraZeneca
Hereditary Breast/Ovarian Cancer (brca1, brca2), Lynch Syndrome
Patient Centered Clinical Decision Support for Hereditary Cancer Syndromes
The goal of this clinical trial is to address care gaps for participants at high risk of breast and ovarian cancer (HBOC), or Lynch syndrome (LS) because of testing positive for specific genetic variants.
- Conditions
- Hereditary Breast/Ovarian Cancer (brca1, brca2), Lynch Syndrome, Genetic Variation, HBOC Syndrome
- Trial name
- PC-CDS (NCT06914726)
- Testing
- Patient Centered Clinical Decision Support (PC-CDS)
- Where
- United States
- Volunteers
- 2,488 people
- Sponsor
- HealthPartners Institute
Sickle Cell, PKLR Variants
Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and Adenosine Triphosphate Activities in Red Blood Cells of People With Sickle Cell Disease
Background: Some people with the same disorder on a genetic level have more complications than others. Researchers want to look for a link between the PKLR gene and sickle cell disease (SCD) symptoms.
- Conditions
- Sickle Cell, PKLR Variants, Adenosine Triphosphate Activities
- Trial name
- NCT03685721
- Where
- United States
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Psychiatric Disorder
Familial and Functional Study of Genetic Variants Identified in People With Schizophrenia, Bipolar Disorder, Autism Spectrum Disorder or Resistant Depression
Genetic analyses conducted on patient with psychiatric disorders assessed at the expert centres resulted in the identific action of genetic variants associated with psychiatric disorders (Courtois, 2020).
- Trial name
- GENI (NCT05480826)
- Testing
- study of the transmission of genetic variants
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Fondation FondaMental
Chronic Kidney Diseases, Albuminuria
Diabetic Nephropathy in People With Diabetes. Prevalence and Predictive Factors
a prospective, observational, multi-center study with a cohort of 300 patients with Type 2 diabetes and macroalbuminuria. Prospectively we will collect kidney biopsies and analyse the transciptome of the kidney tissue and other…
- Conditions
- Chronic Kidney Diseases, Albuminuria, Diabetic Kidney Disease, Diabetic Nephropathies
- Trial name
- PRIMETIME2 (NCT04916132)
- Testing
- Kidney Biopsy
- Where
- 13 sites in Denmark
- Volunteers
- 300 people
- Sponsor
- Herlev Hospital
Major Depressive Disorder (MDD, Anxiety Disorder, Generalized
Serotonin Variants & Gut Microbiota in Mental Health
This observational pilot study investigates whether a broad panel of genetic variants relevant to the serotonin pathway (including serotonergic system, methylation cycle, intestinal barrier integrity, and inflammatory response…
- Conditions
- Major Depressive Disorder (MDD, Anxiety Disorder, Generalized, Stress Disorders, Post-Traumatic, Panic Disorder
- Trial name
- NCT07634458
- Testing
- SNP Genotyping and Gut Metagenomics
- Volunteers
- 30 people
- Sponsor
- Neurobiologix