Clinical trials: Genetic Variation
Fabry Disease
Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease
This is a long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants
- Trial name
- NCT04049760
- Testing
- migalastat HCl 150 mg
- Where
- 6 sites in United States, United Kingdom
- Volunteers
- 16 people
- Sponsor
- Amicus Therapeutics
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
Non-alcoholic Steatohepatitis (NASH)
Genetic Data Collection in Adult Participants to Identify Genetic Variants of Known Importance in Non-alcoholic Steatohepatitis (NASH)
Collection of clinical and genetic data to help identify individuals that carry genetic variants of known importance in Non-alcoholic Steatohepatitis (NASH)
- Trial name
- NCT05423327
- Testing
- No Intervention
- Where
- 50 sites in United States, Brazil and 3 more
- Volunteers
- 5,311 people
- Sponsor
- Regeneron Pharmaceuticals
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.
Congenital Sucrase-isomaltase Deficiency (CSID)
Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Congenital sucrose-isomaltase deficiency (CSID) is a rare, genetic disease in which mutations in the sucrose-isomaltase (SI) gene cause digestion problems of sucrose resulting in diarrhea and abdominal pain.
- Trial name
- CSID GPS (NCT01914003)
- Where
- 19 sites in United States
- Volunteers
- 53 people
- Sponsor
- QOL Medical, LLC
Hemophilia A, Hemophilia B
Study of Coagulation Faction VIIa Variant Marzeptacog Alfa (Activated) in Adult Subjects With Hemophilia
This multi-center, open label Phase 1 study will evaluate the pharmacokinetics, pharmacodynamics, and safety of a single IV dose of MarzAA followed by ascending single SC doses of MarzAA in adult subjects with moderate or severe…
- Conditions
- Hemophilia A, Hemophilia B, Hemophilia A With Inhibitor, Hemophilia B With Inhibitor
- Trial name
- NCT04072237
- Testing
- MarzAA (marzeptacog alfa [activated])
- Where
- 5 sites in Bulgaria, Russia
- Volunteers
- 11 people
- Sponsor
- Catalyst Biosciences
Focal Segmental Glomerulosclerosis
A Study to Find Out if BI 764198 Helps Adults and Adolescents With a Kidney Condition Called Focal Segmental Glomerulosclerosis (FSGS)
PODOMOUNT-pFSGS This study is open to adults and adolescents with a kidney condition called focal segmental glomerulosclerosis (FSGS).
- Trial name
- NCT07220083
- Testing
- BI 764198
- Where
- 316 sites in United States, Argentina and 38 more
- Volunteers
- 286 people
- Sponsor
- Boehringer Ingelheim
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
Friedreich Ataxia
A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia
To test the variability of specific ribonucleic acid (RNA) and proteins as well as frataxin levels in samples of blood and buccal cells taken directly from patients with Friedreich's ataxia (FRDA) in order to confirm potential…
- Trial name
- NCT04255680
- Testing
- Buccal Swabs and Blood Draws
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Larimar Therapeutics, Inc.
GM1 Gangliosidosis, GM2 Gangliosidosis
Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2).
- Conditions
- GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease
- Trial name
- RETRIEVE (NCT04470713)
- Where
- 17 sites in United States, Belgium and 8 more
- Volunteers
- 226 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.
Age-related Macular Degeneration, Choroidal Neovascular Age-related Macular Degeneration
Association of Macular Pigment Optical Density (MPOD) and Genetic Variants in Complement Factor H in Subjects With Choroidal Neovascular (CNV)
Subjects with wet AMD, dry AMD, and age-matched controls will undergo routine occular measurements, will provide a blood and cheek cell sample, and will have macular pigment optical density (MPOD) measured to determine if there…
- Trial name
- NCT01682382
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Sequenom, Inc.
Obesity, Metabolic Syndrome
Association of Genes to Resistance to Weight Loss in Obese Patients
The overall goal of this study is to determine whether variations in the perilipin, and several other, genes would be a useful tool for physicians who are caring for morbidly obese patients to guide therapy.
- Conditions
- Obesity, Metabolic Syndrome, Dyslipidemia
- Trial name
- NCT00858221
- Where
- United States
- Volunteers
- 824 people
- Sponsor
- Interleukin Genetics, Inc.
Urea Cycle Disorders, Inborn, Urea Cycle Disorders
Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD
Phase 1/2 Study of KRRO-121 is a randomized, placebo-controlled study in Healthy Volunteers (Phase 1 SAD and MAD) and Study Participants with Urea Cycle Disorders (Phase 2).
- Conditions
- Urea Cycle Disorders, Inborn, Urea Cycle Disorders, Ornithine Transcarbamylase (OTC) Deficiency, Arginase 1 Deficiency
- Trial name
- ANCHOR (NCT07773246)
- Testing
- KRRO-121
- Where
- Australia
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Korro Bio, Inc.
Obesity, Genetic Obesity
EMANATE: A Study of Setmelanotide in Patients With Specific Gene Variants in the MC4R Pathway
The protocol describes a randomized, double-blind, placebo-controlled trial with independent sub-studies of setmelanotide in patients with obesity and at least one of the specific gene variants in the Melanocortin-4 Receptor…
- Trial name
- NCT05093634
- Testing
- Setmelanotide
- Where
- 56 sites in United States, Canada and 8 more
- Volunteers
- 296 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Age Related Macular Degeneration, Choroidal Neovascularization
Genetic Analysis of Chronic Central Serous Chorioretinopathy Masquerading as Neovascular AMD
The study will be designed as a case control evaluation to compare the genetic profiles of three groups of patients categorized according to diagnosis.
- Conditions
- Age Related Macular Degeneration, Choroidal Neovascularization, Central Serous Chorioretinopathy
- Trial name
- NCT01880788
- Where
- United States
- Volunteers
- 152 people
- Sponsor
- Sequenom, Inc.
Developmental Disability, Intellectual Disability
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system.
- Conditions
- Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly
- Trial name
- NCT05295277
- Testing
- Standard of care genetic testing group
- Where
- 8 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Bionano Genomics
Fabry Disease
A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease
An Open-label Study to Evaluate the Safety and Pharmacokinetics of Migalastat HCl in Subjects with Fabry Disease and Amenable GLA Variants and Severe Renal Impairment (SRI) or End Stage Renal Disease (ESRD)
- Trial name
- NCT04020055
- Testing
- migalastat HCl 150 mg
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 14 people
- Sponsor
- Amicus Therapeutics
Hypochondroplasia
An Interventional Study of Infigratinib in Children With Hypochondroplasia
ACCEL2/3 is a Phase 2/3 study. The purpose of the Phase 2 portion of the study (ACCEL2/3) is to evaluate the efficacy and safety of infigratinib in children with hypochondroplasia (HCH) receiving infigratinib at one of two doses…
- Trial name
- HCH (NCT06873035)
- Testing
- infigratinib 0.128 mg/kg/day, infigratinib 0.25 mg/kg/day
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 24 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Age-related Macular Degeneration
Genetic Load and Phenotype in Aggressive AMD
Patients with AMD will provide cheek cell samples to determine if their is a correlation between genotype (DNA markers) and phenotype (the type of AMD the patient has).
- Trial name
- RPED Genetics (NCT01650948)
- Testing
- RetnaGene AMD LDT
- Where
- 3 sites in United States
- Volunteers
- 100 people
- Sponsor
- Sequenom, Inc.
Lipodystrophy, Generalized Lipodystrophy (GLD)
Compassionate Use or Expanded Access of Mibavademab
Provide Expanded Access to REGN4461 for patients with diseases associated with deficient leptin signaling.
- Conditions
- Lipodystrophy, Generalized Lipodystrophy (GLD), Monogenic Obesity (MOB)
- Trial name
- NCT04710056
- Testing
- REGN4461
- Sponsor
- Regeneron Pharmaceuticals