Clinical trials: Genetic Variation
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)
Rotavirus, Diarrhea
Response to Rotavirus Vaccine in Infants in Ho Chi Minh City in Vietnam
The primary objective is to measure the effect of host human genetics on the resulting immunological responses and long-term protection following rotavirus immunization of a study population of infants in Ho Chi Minh City…
- Trial name
- NCT03587389
- Testing
- Rotarix vaccine
- Where
- Vietnam
- Volunteers
- 818 people, healthy volunteers welcome
- Sponsor
- Oxford University Clinical Research Unit, Vietnam
16P11.2 Deletion Syndrome, 16p11.2 Duplications
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism.
- Conditions
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder)
- Trial name
- NCT01238250
- Where
- 2 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Simons Searchlight
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
Failure of Dental Implant Due to Infection, Infection
Regenerative Surgical Treatment of Peri-implantitis
The purpose of the study is to evaluate if surgical treatment of peri-implantitis with enamel matrix derivative (Emdogain®, EMD) will have an additional effect on the healing outcome, changes in the peri-implant microflora and on…
- Conditions
- Failure of Dental Implant Due to Infection, Infection, Inflammation, Peri-implantitis
- Trial name
- NCT02500654
- Testing
- Emdogain®, Surgery alone
- Where
- Sweden
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Catrine Isehed
Pompe Disease, Pompe Disease (Late-onset)
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease
This is an observational study with no study related treatment of interventions. The purpose of the study is to investigate and document disease specific clinical symptoms in newborns, infants and children with Pompe disease…
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency
- Trial name
- NCT03694561
- Testing
- Observational
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Duke University
Batten Disease, Neuronal Ceroid Lipofuscinosis CLN6
Natural History Study of Batten Disease
This is a multicenter, international, study to assess the natural history data from people with Batten disease by collecting both retrospective and prospective information about the motor, behavioral and functional capabilities…
- Conditions
- Batten Disease, Neuronal Ceroid Lipofuscinosis CLN6, Neuronal Ceroid Lipofuscinosis CLN3
- Trial name
- NCT04644549
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Emily de los Reyes
Malaria, Falciparum Malaria
Malaria Molecular Surveillance in Mozambique (Phase 2)
Mozambique is among the ten countries with the highest burden of malaria worldwide, with an estimated 10.3 million cases in 2021.
- Conditions
- Malaria, Falciparum Malaria, Malaria in Pregnancy
- Trial name
- GenMoz2 (NCT06529237)
- Testing
- LDH-based malaria rapid diagnostic test, Malaria rapid diagnostic test
- Where
- Mozambique
- Volunteers
- 18,750 people, healthy volunteers welcome
- Sponsor
- Centro de Investigacao em Saude de Manhica
Colorectal Cancer
Implication of Genetic Variations in Long Intergenic Non-coding RNA 00511 (LINC00511) in Colorectal Cancer
As, there is a lack of information about the association between LINC00511 SNP(s) variants and CRC susceptibility, so this study was undertaken to address whether these SNPs would increase CRC risk or could predict its prognosis.
- Trial name
- NCT06534242
- Where
- Egypt
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Ain Shams University
Phenylketonuria, Hyperphenylalaninemia
Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia
Phenylketonuria (PKU) is a rare disease where the level of phenylalanine (one of the amino acids) in the body is greatly increased. High levels can cause brain damage, especially in babies and children.
- Trial name
- NCT01869972
- Where
- 2 sites in Canada
- Volunteers
- 32 people
- Sponsor
- Hamilton Health Sciences Corporation
Klinefelter Syndrome
TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about the effect of testosterone on early health and development.
- Trial name
- TESTO (NCT03325647)
- Testing
- Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution
- Where
- United States
- Volunteers
- 72 people
- Sponsor
- University of Colorado, Denver
Klinefelter Syndrome, Trisomy X
The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early…
- Conditions
- Klinefelter Syndrome, Trisomy X, XYY Syndrome, XXXY and XXXXY Syndrome
- Trial name
- NCT03396562
- Testing
- Assessments of Development and Growth
- Where
- 2 sites in United States
- Volunteers
- 300 people
- Sponsor
- University of Colorado, Denver
Hypertension
The Chinese Mutation Hotspot of ENaC Causing Liddle's Syndrome and the Association of ENaC Variations and Hypertension
The variations of ENaC have an impact on the degradation of epithelial sodium channels and sodium reabsorption, and thus are associated with hypertension and hypokalemia.
- Trial name
- NCT00448162
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College
Lupus Erythematosus, Systemic, Adverse Effects
Exploration of Genotype Based Personalized Prescription of Cyclophosphamide in Systemic Lupus Erythematosus Treatment
The purpose of this study is to investigate the relationship between the side effects of cyclophosphamide in the treatment of systemic lupus erythematosus (SLE) in Han Chinese and the genetic polymorphisms of drug metabolizing…
- Trial name
- NCT01060410
- Testing
- Polymorphism Analysis, Cyclophosphamide, Pharmacokinetic analysis
- Where
- China
- Volunteers
- 222 people
- Sponsor
- Sun Yat-sen University
Genetics Syndrome, Ehlers-Danlos Syndrome
Genetics of Ehlers-Danlos Syndrome
We are planning to collected blood and saliva for DNA extraction to use for genetic testing of children and adults with EDS and their relatives. Medical records from other institutions and clinical notes for visits in Dr.
- Trial name
- NCT03093493
- Testing
- Genotyping
- Where
- United States
- Volunteers
- 334 people, healthy volunteers welcome
- Sponsor
- Boston University
Drug Distribution
Statin Distribution
Anticipating an increased use of statins in children and adolescents, it is imperative that we understand the genetic and developmental characteristics affecting the pharmacokinetics and pharmacodynamics of statins in childhood…
- Trial name
- NCT02360826
- Testing
- Pravastatin, Simvastatin
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Children's Mercy Hospital Kansas City
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.
Klinefelter Syndrome
Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about body composition (muscle and fat) and male hormones and look at the effect of testosterone shots on body composition.
- Trial name
- NCT02408445
- Testing
- testosterone cypionate 200mg/ml
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Colorado, Denver
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
Atopic Dermatitis
The Role of Filaggrin and FADS Genes on the Concentrations of PUFA Towards Its Effect on Atopic Dermatitis in Infants
The incidence of atopic dermatitis has increased dramatically in this years. Atopic dermatitis occurs due to complex interactions between genetic and environmental factors.
- Trial name
- FLG-FADSgen (NCT02401178)
- Where
- Indonesia
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Universitas Indonesia