Clinical trials: Genetic Variation, open to volunteers
Metabolic Diseases, Diabetes Mellitus (Type 2)
Specificities of Atypical Non AutoImmune Diabetes (ANAID) in the French West Indies
Genetics variants could be involved in atypical non-autoimmune diabetes revealed by ketoacidosis. The objective of this research will be to determine the relationships between the genetic variants already described in known…
- Conditions
- Metabolic Diseases, Diabetes Mellitus (Type 2), Genetic Variation, Genetic Profile
- Trial name
- DiAGeNA (NCT07576374)
- Where
- Guadeloupe
- Volunteers
- 118 people
- Sponsor
- Centre Hospitalier Universitaire de la Guadeloupe
Neurodevelopmental Disorders, Intellectual Disability
Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases
LEOPARD is a multicenter study aimed at improving the genetic diagnosis of patients with neurodevelopmental disorders (NDDs) of unknown etiology, particularly those with moderate-to-severe intellectual disability.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Autism Spectrum Disorder, Genetic Diseases, Inborn
- Trial name
- LEOPARD (NCT07884227)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Giannina Gaslini
Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial
To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
The AG10-504 study is an open-label extension study of acoramidis in participants with newly diagnosed transthyretin amyloid cardiomyopathy (ATTR-CM) or both ATTR-CM and transthyretin amyloid polyneuropathy (ATTR-PN).
- Conditions
- Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial, Amyloid Cardiomyopathy, Amyloid Cardiomyopathy, Transthyretin-Related
- Trial name
- NCT07116473
- Testing
- Acoramidis (AG10)
- Volunteers
- 250 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Down Syndrome
Genetic and Epigenetic Variations in Heterokaryotypic Monozygotic Twins Discordant for Down Syndrome
Heterokaryotypic monozygotic twins discordant for Down syndrome (DS) are very rare, with an incidence estimated to be less than 1 over 7,000,000 pregnancy in the general population.
- Trial name
- Colibri (NCT05767216)
- Testing
- Biological sampling
- Where
- France
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Institut Jerome Lejeune
Advanced Solid Tumor, Adult, ERBB2 Altered Breast Cancer
A Study of a Selective ERBB2 Inhibitor (CGT4255), in Patients With Advanced Solid Tumors
This is an open-label, phase 1/1b study evaluating the safety, tolerability, pharmacokinetic (what the body does to the drug), pharmacodynamic (what the drug does to the body), and antitumor activity of CGT4255 in adult…
- Conditions
- Advanced Solid Tumor, Adult, ERBB2 Altered Breast Cancer, ERBB2 Gene Amplification, HER2 Overexpression
- Trial name
- NCT07361562
- Testing
- CGT4255
- Where
- 15 sites in United States
- Volunteers
- 100 people
- Sponsor
- Cogent Biosciences, Inc.
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
Congenital Malformations
Contribution of Optical Genome Mapping (OGM) in the Diagnosis of Multiple Congenital Malformations With or Without Intellectual Disability Without Genetic Abnormality
Congenital malformations result from an embryonic or foetal developmental disorder (DD) affecting one or more systems (cardiac, skeletal, nervous, etc.). These are referred to as multiple congenital anomalies (MCAs).
- Trial name
- CARTOGEN-N (NCT07370792)
- Testing
- blood sample
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Céline PEBREL-RICHARD
ALL, Childhood, Pediatric Cancer
Pharmacogenomic Association Study in Indian Children With Acute Lymphoblastic Leukemia
A five-year prospective observational cohort study. The study is focused on observing the relation between static germline variants and therapeutic response in Indian children with acute lymphoblastic leukemia (ALL).
- Conditions
- ALL, Childhood, Pediatric Cancer, Toxicity, Drug, Adverse Drug Event
- Trial name
- MPGx-INDALL (NCT05512169)
- Where
- 2 sites in India
- Volunteers
- 556 people
- Sponsor
- University of Geneva, Switzerland
BRCA1 Mutation, POLD1 Gene Mutation
An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results
The purpose of this study is to examine the impact of new cancer genetic counseling models that aim to increase patient engagement with the genetics team.
- Conditions
- BRCA1 Mutation, POLD1 Gene Mutation, CDKN2A Mutation, BRCA2 Mutation
- Trial name
- NCT05420064
- Testing
- Intervention Arm At-risk Relative/ARR Contacts, MyGene Portal, Standard of Care
- Where
- 8 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Contraception, Pharmacogenomic Drug Interaction
Oral Contraceptive Pill (OCP) Pharmacogenomics
The goal of this clinical trial is to evaluate how differences in specific parts of our DNA can influence how individual bodies break down the hormones contained within oral contraceptive pills, which could affect how well these…
- Trial name
- NCT06334315
- Testing
- Desogestrel / Ethinyl Estradiol Pill
- Where
- 2 sites in United States
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- Yale University
PKP2 Arrhythmogenic Cardiomyopathy (PKP2-ACM)
A Phase 1, Dose Escalation Trial of RP-A601 in Subjects With PKP2 Variant-Mediated Arrhythmogenic Cardiomyopathy (PKP2-ACM)
This Phase 1 dose escalation trial will assess the safety and preliminary efficacy of a single dose intravenous infusion of RP-A601 in high-risk adult patients with PKP2-ACM.
- Trial name
- NCT05885412
- Testing
- RP-A601
- Where
- 3 sites in United States
- Volunteers
- 9 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Inflammatory Disease, Genetic Disease
Molecular Diagnosis of Systemic Autoinflammatory Diseases
Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.
- Conditions
- Inflammatory Disease, Genetic Disease, Somatic Mutation, Molecular Sequence Variation
- Trial name
- SAIDiag (NCT05364294)
- Where
- France
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
PIK3CA Mutations, Advanced Solid Tumors, Adult
A Study of Mutant Selective-Inhibitor (CGT6297), in Patients With Advanced Solid Tumors
This is a Phase 1, two-part, open-label, nonrandomized, dose-escalation and signal-seeking study of CGT6297, evaluating the safety, tolerability, PK, pharmacodynamic (what the drug does to the body), and antitumor activity of…
- Conditions
- PIK3CA Mutations, Advanced Solid Tumors, Adult, Endometrial Cancer, HR Positive/HER-2 Negative Breast Cancer
- Trial name
- NCT07383506
- Testing
- CGT6297
- Where
- 12 sites in United States
- Volunteers
- 90 people
- Sponsor
- Cogent Biosciences, Inc.
Liver Cirrhosis, Gall Stone
Genetic Variants Associated With the Risk of Gall Stones and Cirrhosis.
Gall stone disease is more common in patients with cirrhosis. This association has been well established in different studies. Among the various factors which predispose a patient with gall stone disease to have associated liver…
- Trial name
- NCT06679738
- Where
- India
- Volunteers
- 50 people
- Sponsor
- Institute of Liver and Biliary Sciences, India
Aneurism
Genetic Profile In Patients With Ruptured and Unruptured Intracranial Aneurysms
The project will involve multiple units within our Institute (Neurosurgery, Cerebrovascular Diseases, Neurology IV), as well as additional neurosurgical centers across Italy, for the enrollment of patients with saccular…
- Trial name
- ANEUBIO (NCT07233915)
- Where
- Italy
- Volunteers
- 252 people, healthy volunteers welcome
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Diabetes Mellitus, Monogenic Diabetes
Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)
This observational 'recruit by genotype' study aims to provide insights into the cellular and molecular pathways underlying beta cell disorders and their physiological consequences.
- Conditions
- Diabetes Mellitus, Monogenic Diabetes, Hyperinsulinism
- Trial name
- ENDURE (NCT06478121)
- Testing
- Data and Blood collection, MRI
- Where
- United Kingdom
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Exeter
Anesthesia, Analgesia
Genetic Variants and Perioperative Morbidity and Mortality
Prospective association study to analyse perioperative patients' outcome. Outcome comprises intraoperative and postoperative complications e.g.
- Conditions
- Anesthesia, Analgesia, Surgical Procedure, Operative
- Trial name
- NCT02124499
- Where
- Switzerland
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Arrhythmogenic Cardiomyopathy, PKP2-ACM
Long-term Follow-up Study of Gene Therapy for Arrhythmogenic Cardiomyopathy Due to a Plakophilin-2 Pathogenic Variant
The primary objective of this Phase 1/2 long-term follow-up (LTFU) study is to assess the long-term safety and tolerability of LX2020 for the treatment of arrhythmogenic cardiomyopathy (ACM) due to a plakophilin-2 gene (PKP2)…
- Conditions
- Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
- Trial name
- GRIT-PKP2 (NCT07050160)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Lexeo Therapeutics
MMR Mutation, Small Bowel Adenoma
Small Bowel Capsule Endoscopy in Lynch Syndrome
The impact of small bowel (SB) capsule endoscopy (CE) on the screening (followed by diagnosis and treatment) of (pre)neoplastic lesions of the small bowel in Lynch syndrome (LS) patients is unknown.
- Conditions
- MMR Mutation, Small Bowel Adenoma, Small-bowel Adenocarcinoma, Lynch Syndrome
- Trial name
- iCARE4Lynch (NCT07472686)
- Where
- France
- Volunteers
- 400 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Non-alcoholic Fatty Liver, Atherogenic Dyslipidemia
Genetic Pathways Leading to Fatty Liver and Atherogenic Dyslipidemia
The aims of the study are: 1. To investigate if carriers of apolipoprotein (apo) CIII loss-of-function (LOF) mutations produce less apo-CIII that results in reduction of large very low-density lipoprotein (VLDL) particle…
- Conditions
- Non-alcoholic Fatty Liver, Atherogenic Dyslipidemia, Insulin Resistance
- Trial name
- VARKIN (NCT04209816)
- Testing
- Lipoprotein kinetics
- Where
- 2 sites in Finland, Sweden
- Volunteers
- 100 people
- Sponsor
- Marja-Riitta Taskinen