Clinical trials: Genetic Testing
Chuvash Polycythemia, Cerebrovascular Disease
Pulmonary Hypertension, Hypoxia and Sickle Cell Disease
The study will look at the risk factors for pulmonary hypertension (high blood pressure in the lungs) in children and adolescents with sickle cell anemia (SCA) and examine the role of hypoxia (oxygen shortage) in the disease.
- Conditions
- Chuvash Polycythemia, Cerebrovascular Disease, Pulmonary Hypertension, Sickle Cell Anemia
- Trial name
- NCT00495638
- Where
- 7 sites in United States, Russia
- Volunteers
- 29 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Hemophilia
Motor Proficiency of People With Bleeding Disorders Using the BOT-2 (TM)
The purpose of this study is to find out if gross motor skills of children and young adults with bleeding disorders are different from those without bleeding disorders.
- Trial name
- NCT02279199
- Where
- 2 sites in United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Nevi
Study to Test Genetic Alterations Among Different Dermoscopic Types of Melanocytic Nevi.
This project is a multicenter study in which we will investigate a dual concept of nevogenesis. Study location is the Department of Dermatology at the Medical University of Graz in collaboration with centers in Austria (Vienna)…
- Trial name
- NCT00422448
- Testing
- To test the frequency of BRAF and NRAS mutations among nevi
- Where
- Austria
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Medical University of Graz
Microdeletion Syndromes, Trisomy 21
Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on…
- Conditions
- Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- Microdel Triad (NCT02109770)
- Where
- 2 sites in United States
- Volunteers
- 216 people
- Sponsor
- Natera, Inc.
Ataxia Telangiectasia
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis
Study design: Parallel group, placebo-controlled, dose-escalation each 2 months for 12 months. Dose based on percent (%) of calculated caloric intake.
- Trial name
- A-TC7 (NCT04513002)
- Testing
- Triheptanoin
- Where
- Australia
- Volunteers
- 30 people
- Sponsor
- The University of Queensland
Duchenne's Muscular Dystrophy, Scoliosis
Test-Retest Reliability of Pulmonary Function Tests in Patients With Duchenne's Muscular Dystrophy
Nearly all patients with Duchenne's Muscular Dystrophy (DMD) have scoliosis. Posterior instrumented spinal fusion, which is a surgery to correct scoliosis, has been shown to improve quality of life and satisfaction of both…
- Trial name
- NCT00207857
- Where
- United States
- Sponsor
- Children's Healthcare of Atlanta
Primary Ciliary Dyskinesia
Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is a rare disease, caused by impairment of the motile cilia. Patients present with chronic upper and lower respiratory tract infections.
- Trial name
- NCT01929356
- Testing
- Chest physiotherapy
- Where
- Belgium
- Volunteers
- 29 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
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
Genetic/Metabolic Liver Diseases
China Registry for Genetic / Metabolic Liver Diseases
CR-GMLD registry started on June 13, 2015 to collect cases of genetic/metabolic liver diseases from tertiary or secondary hospitals in mainland China.
- Trial name
- NCT03131427
- Testing
- Standard of care
- Where
- 12 sites in China
- Volunteers
- 20,000 people
- Sponsor
- Beijing Friendship Hospital
Limb-Girdle Muscular Dystrophy ; Subtypes 2A, 2B, and 2I
Limb-Girdle Video Assessment
The purpose of this study is to develop a new remote-based video assessment outcome measure for Limb-Girdle Muscular Dystrophy (LGMD) trials. The overall objectives for this study are: 1.
- Trial name
- NCT05528757
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- The Emmes Company, LLC
Pregnant Women
Verification of Correlation Between Genetic Testing of Nutritional Metabolism and Clinical Biochemical Indicators
The research plan is divided into two parts. The first part is the correlation study .It is planned to include women who prepare for pregnancy or in the early stages of pregnancy to carry out the detection of 25 loci SNP of 21…
- Trial name
- NCT03651934
- Testing
- Normal iron, Weak iron, Normal selenium
- Volunteers
- 600 people
- Sponsor
- Peking Union Medical College Hospital
Hirschsprung Disease
Hirschsprung Disease Genetic Study
Hirschsprung disease is a genetic condition caused by lack of nerve cells in varying lengths of the intestines. This study will investigate the complex genetic basis of the disease, which involves multiple interacting genetic…
- Trial name
- NCT00478712
- Testing
- Identification of genetic causes of Hirschsprung Disease
- Where
- United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- NYU Langone Health
Disorder Related to Renal Transplantation, Renal Transplant Rejection
Testing Immunosuppression Threshold in Renal Allografts To Extend eGFR
This study evaluates the addition of "Kidney Solid Organ Rejection Test" (kSORT), in the clinical follow-up of renal transplant recipients, compared to clinical standard surveillance in the first two years after kidney…
- Conditions
- Disorder Related to Renal Transplantation, Renal Transplant Rejection, Acute Graft Rejection
- Trial name
- TITRATE (NCT02581436)
- Testing
- kSORT assay based follow-up, Standard follow-up
- Where
- Mexico
- Volunteers
- 70 people
- Sponsor
- Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran
ADPKD, Pain
Somatosensory Phenotyping of ADPKD
Over 60% of patients with ADPKD suffer from pain, mostly in the abdomen, flank and back, often leading to the diagnosis. It is challenging to manage and cure the pain; approximately 39% of patients are not satisfied with their…
- Trial name
- NCT06970028
- Testing
- Quantitative Sensory Testing, Questionnaires regarding pain and quality of life
- Where
- Belgium
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
ASD, Autism Spectrum Disorder
The Effects of Tailored Judo Training and Nutritional Counseling on Physical Fitness and Body Composition in Children With Autism: A Study Including Blood Morphology and Genetic Analysis
The present research project aims to testing adapted judo training as a form of supportive developmental therapy, combined with nutritional counseling, to influence physical fitness, dietary habits, body composition, body…
- Conditions
- ASD, Autism Spectrum Disorder, Autism Spectrum Disorder High-Functioning, Autism Spectrum
- Trial name
- AdaptedJudoASD (NCT07442994)
- Testing
- Adapted judo training for children and adeloscence with and without autism spectrum disorder - training in integrated groups
- Where
- Poland
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Poznan University of Physical Education
Kidney Neoplasms, Kidney Cancer
Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
This study will investigate the genetic cause of Birt Hogg-Dube (BHD) syndrome and the relationship of this disorder to kidney cancer.
- Conditions
- Kidney Neoplasms, Kidney Cancer, Pneumothorax, FLCN Protein, Human
- Trial name
- NCT00033137
- Where
- United States
- Volunteers
- 950 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
X-linked Hypohidrotic Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia
Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status
The investigators propose to obtain facial photographs for use in testing a computer algorithm that recognizes males at high risk for Hypohidrotic Ectodermal Dysplasia (XLHED).
- Trial name
- ECP-013 (NCT01629940)
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Alpha-1 Antitrypsin Deficiency
The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study
The Alpha-1 Coded Testing (ACT) Study was established to study genetic testing and outcomes of individuals at risk for alpha-1 antitrypsin deficiency.
- Trial name
- ACT (NCT00500123)
- Testing
- Alpha-1 Antitrypsin Genotype
- Where
- United States
- Volunteers
- 50,000 people, healthy volunteers welcome
- Sponsor
- University of Florida
Sickle Cell Disease
Vascular Function Intervention Trial in Sickle Cell Disease
Sickle cell disease (SCD) is the most common inherited disorder worldwide affecting 300,000 births annually, most occuring in sub-Saharan Africa (SSA) where poor detection and care result in high childhood mortality…
- Trial name
- V-FIT (NCT01718054)
- Testing
- Vascular ready-to-use supplementary food, Regular Ready-to-use supplementary food, Chloroquine
- Where
- Tanzania
- Volunteers
- 120 people
- Sponsor
- London School of Hygiene and Tropical Medicine
Cystic Fibrosis
Oral Glucose Tolerance Testing Using Candy for Cystic Fibrosis
The study aims to determine if a popular dextrose candy alternative yields a similar glycemic curve compared to the standard oral Dextrose solution used in the Oral Glucose Tolerance Test.
- Trial name
- NCT04579939
- Testing
- Candy Glucose Tolerance Test
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Mayo Clinic