Clinical trials: Genetic Variation
Fabry Disease
Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)
This was an open-label study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of migalastat treatment in pediatric participants 12 to <18 years of age with Fabry disease and amenable gene…
- Trial name
- NCT03500094
- Testing
- Migalastat HCl 150 mg
- Where
- 8 sites in United States, United Kingdom
- Volunteers
- 22 people
- Sponsor
- Amicus Therapeutics
Cancer Colon
Genetic Variants of Selected Genes in Colo-Rectal Cancer Patients.
Colorectal cancers (CRC) are the third most common human malignancy, and are also the leading cause of cancer related deaths worldwide.
- Trial name
- NCT02542670
- Testing
- Whole genome sequencing
- Where
- 2 sites in Egypt
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Sherief Abd-Elsalam
Cryptosporidiosis
Cryptosporidium Species in Sohag Governorate
Cryptosporidium species are increasingly recognized as important enteric pathogens that infect a broad range of hosts including human, domestic and wild animals worldwide, causing asymptomatic or mild-to-severe gastrointestinal…
- Trial name
- NCT05208970
- Where
- Egypt
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Sohag University
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
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
Williams Syndrome, Supravalvular Aortic Stenosis
Impact of Elastin Mediated Vascular Stiffness on End Organs
Background: People with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) have less elasticity in their blood vessels. This is called blood vessel stiffness.
- Conditions
- Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
- Trial name
- NCT02840448
- Where
- 2 sites in United States
- Volunteers
- 159 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Gene Product Sequence Variation
Candidate Gene Screening for Attention Deficit/Hyperactive Disorder (ADHD)
Source: Sample bank of Xijing Hospital and Children's Hospital Affiliated to Soochow University; Sample form: Whole blood; Estimated number of samples: 100 patients with ADHD and age, sex matched healthy controls; Case exclusion…
- Trial name
- NCT03018574
- Where
- China
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Xijing Hospital
Retinitis Pigmentosa
A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
The purpose of the study is to assess the safety and tolerability of bilateral subretinal delivery of adeno-associated virus vector with a serotype 5 capsid human rhodopsin kinase promoter.
- Trial name
- NCT05926583
- Testing
- AAV5-hRKp.RPGR
- Where
- Japan
- Volunteers
- 4 people
- Sponsor
- MeiraGTx Ocular UK Ltd
SH2B1 Deficiency Obesity, Obesity Associated With PCSK1 Mutation (rs6232 Variant)
An Open-Label Study of Diazoxide Choline in Patients With Genetic Obesities
This is a phase 2 open-label, one-arm, clinical study to evaluate the efficacy and safety of DCCR (diazoxide choline) extended-release tablets over 1 year of treatment, in patients with genetic obesities.
- Conditions
- SH2B1 Deficiency Obesity, Obesity Associated With PCSK1 Mutation (rs6232 Variant), SIM1 Deficiency Obesity
- Trial name
- NCT05532020
- Testing
- DCCR (diazoxide choline) extended-release tablets
- Sponsor
- Soleno Therapeutics, Inc.
Infantile Spasms, West Syndrome
Molecular Genetics in Infantile Spasms
Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life.
- Trial name
- NCT02885389
- Volunteers
- 41 people
- Sponsor
- Hospices Civils de Lyon
Phenylketonuria (PKU)
A Pilot Study on Diurnal Variation
This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with…
- Trial name
- NCT01806051
- Testing
- Kuvan
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Dr. Linda Randolph
Auditory Neuropathy Spectrum Disorder, Auditory Neuropathy
Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder
The aim of this observational study is to determine the prevalence of OTOF gene variants among patients with auditory neuropathy spectrum disorder (ANSD).
- Trial name
- NCT07778641
- Testing
- Whole exome sequencing.
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Sohag University
Fabry Disease
A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
An open-label study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of migalastat treatment in pediatric subjects 2 to < 12 years of age with Fabry disease and with amenable GLA variants.
- Trial name
- NCT06904261
- Testing
- Migalastat HCl 20 mg
- Where
- 12 sites in United States, Belgium and 4 more
- Volunteers
- 8 people
- Sponsor
- Amicus Therapeutics
Dyslipidemia
Pharmacokinetics of Rosuvastatin and Atorvastatin in Pediatric Dyslipidemia Patients
This will be a single center, open label, randomized, cross-over study in patients with dyslipidemia comparing the pharmacokinetics of rosuvastatin and atorvastatin in patients with greater than or equal to one variant allele in…
- Trial name
- SD2 (NCT02364258)
- Testing
- Rosuvastatin, Atorvastatin
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Children's Mercy Hospital Kansas City
Hypertrophic Cardiomyopathy, Hearing Loss
Refining Information Technology Support for Genetics in Medicine
The clinical use of genetic testing is expanding and, as a result, the number of variants identified in patients is growing. Knowledge of the clinical impact of these variants improves over time.
- Conditions
- Hypertrophic Cardiomyopathy, Hearing Loss, Cancer
- Trial name
- RISGIM (NCT01225978)
- Testing
- GeneInsight Clinic (GIC)
- Where
- 9 sites in United States, Canada
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Hereditary Spastic Paraplegia
D-Cycloserine for Serine Palmitoyltransferase Inhibition
The overarching objective of this study is to mitigate the neurological decline associated with SPTSSA related Complex Hereditary Spastic Paraplegia
- Trial name
- NCT07542548
- Testing
- D-cycloserine
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Massachusetts General Hospital
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.
Rare Disease, Undiagnosed Disease
EpiSign International: Expanding Epigenomic Testing in Rare Disease
The purpose of this study is to assess the utility of EpiSign software and an integrated DNA methylation and copy number variant (CNV) microarray technology in helping to diagnose individuals with rare diseases.
- Conditions
- Rare Disease, Undiagnosed Disease, Genetic Diseases, Inborn, Congenital Abnormalities
- Trial name
- NCT07839754
- Testing
- Integrated EPIC/CNV microarray with EpiSign analysis, EpiSign analysis with EPIC DNA methylation microarray
- Where
- United Kingdom
- Volunteers
- 192 people
- Sponsor
- University of Manchester
Rare Diseases, Genetic Predisposition
Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
The MiDiSeq project will enroll 20 unresolved index patients with suspected mitochondrial disease prioritized for genomic analysis.
- Trial name
- NCT03962452
- Testing
- Next Generation Sequencing (NGS)
- Where
- Germany
- Volunteers
- 20 people
- Sponsor
- University Hospital Tuebingen
Turner Syndrome, Post-menarcheal Adolescents
Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy
Background: Turner Syndrome, galactosemia, and premature ovarian insufficiency are all conditions that may make it very hard or impossible for a person to become pregnant and have their own child.
- Conditions
- Turner Syndrome, Post-menarcheal Adolescents, Ovarian Disfunction, Galactosemia
- Trial name
- NCT04948658
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)