Clinical trials: Genetic Variation
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
HIV Infections, Tuberculosis
Characteristics and Prevalence of Tuberculosis and HIV in Masiphumelele Township, Cape Town, South Africa
The purpose of this study is to determine the number of people infected with tuberculosis (TB) in the Masiphumelele Township of Cape Town, South Africa, a community with high rates of TB and HIV.
- Trial name
- NCT00346476
- Where
- 2 sites in South Africa
- Volunteers
- 1,250 people, healthy volunteers welcome
- Sponsor
- CIPRA SA
Schizophrenia
A Neurobiological Study on Heterogeneity of Schizophrenia: Genetic Variations and Neurobiological Differentiations
Schizophrenia (SCH) is a devastating brain disorder with grave personal, family and social cost. SCH is a complex and heterogeneous (both genetic and clinical) disorder with oligogenetic endowed vulnerability risk of disease…
- Trial name
- SONPOS (NCT01075373)
- Where
- Taiwan
- Volunteers
- 360 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Autism, Autism Spectrum Disorder
Autism Genomics Sweden - Genetic Guidance and Information Trial
This observational clinical trial aims to evaluate whether providing genetic information about the origins of autism and related psychiatric disorders enhances understanding, well-being, and empowerment in adolescents and young…
- Conditions
- Autism, Autism Spectrum Disorder, ADHD - Attention Deficit Disorder With Hyperactivity, Depression Anxiety Disorder
- Trial name
- AuGeS-GV (NCT06740760)
- Testing
- Genetic counselling, Leaflet
- Where
- Sweden
- Volunteers
- 63 people
- Sponsor
- Karolinska Institutet
Congenital Heart Disease
Genetics of Congenital Heart Disease
Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown.
- Trial name
- NCT01192048
- Testing
- Blood Sample Collection
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Nationwide Children's Hospital
Hemoglobinopathies
Prevalence of Hemoglobinopathies Associated With Significant Hb Variants in the Chattogram Region of Bangladesh
Hemoglobinopathies represent a collection of genetic conditions that influence the structure or synthesis of haemoglobin, the protein found in red blood cells that facilitates oxygen transport from the lungs throughout the body.
- Trial name
- Hb variants (NCT07207551)
- Where
- Bangladesh
- Volunteers
- 760 people
- Sponsor
- Bangladesh Bioscience Research Group
Freeman-Sheldon Syndrome, Arthrogryposis Distal Type 2A
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Freeman-Sheldon syndrome (FSS) is a rare muscle disorder present before birth, involving primarily problems of the face and skull and the hands and feet.
- Conditions
- Freeman-Sheldon Syndrome, Arthrogryposis Distal Type 2A, Whistling Face Syndrome, Craniocarpotarsal Dysplasia
- Trial name
- STOP-FSS (NCT01144741)
- Testing
- PTSD Checklist-Civilian (PCL-C), Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale (CES-D)
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Freeman-Sheldon Research Group, Inc.
PTEN Hamartoma Syndrome
Natural History With Focus on Oncological Risk Evaluation in Pediatric Patients With PTEN Pathogenic Variants
This is an observational study in pediatric patientis carryng PTEN pathogenic variants aimed to define oncological risk in children and provide a deeper insight of the clinical course, establishing an updated follow-up protocol.
- Trial name
- PTEN_Ped (NCT06805734)
- Where
- Italy
- Volunteers
- 50 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Morphea
Genetic Variants in Linear Localized Scleroderma
The purpose of this study is to investigate the genetic architecture of Linear Localized Scleroderma (LLS) (linear morphea) by whole exome sequencing.
- Trial name
- NCT02222038
- Testing
- skin biopsy
- Where
- 2 sites in Switzerland
- Volunteers
- 50 people
- Sponsor
- University Children's Hospital, Zurich
CLN6, Batten Disease
Gene Therapy Trial for CLN6 Batten Disease
The goal of this clinical trial is to learn if a gene therapy called scAAV9.CB.CLN6 can treat children with CLN6 Batten disease (variant late infantile neuronal ceroid lipofuscinosis).
- Conditions
- CLN6, Batten Disease, Batten's Disease, Neuronal Ceroid Lipofuscinosis CLN6
- Trial name
- NCT07582484
- Testing
- scAAV9.CB.CLN6 (dose: 1.5E14 vector genomes)
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- The Charlotte and Gwenyth Gray Foundation
Thalassemia
Allogeneic Stem Cell Transplantation, Severe Homzygous 0/+Thalassemia or Sever Variants of Beta 0/+ Thalassemia, THALLO
Patients have severe beta-thalassemia or one of the thalassemia variants. Thalassemia is a hereditary disease in which the bone marrow produces abnormal red blood cells that have a shorter life span than normal red blood cells.
- Trial name
- THALLO (NCT00578292)
- Testing
- Busulfan, Fludarabine, Campath 1H
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Baylor College of Medicine
Intellectual Disability, Rubinstein-Taybi Syndrome
Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients.
- Conditions
- Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis, Congenital Heart Defect
- Trial name
- RID (NCT05696912)
- Testing
- Ex-vivo approach concerning 25 patients, In-vitro approach concerning 25 patients
- Where
- France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Bordeaux
Rubinstein-Taybi Syndrome
Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.
Rubinstein-Taybi syndrome (RSTS) is a rare and severe congenital developmental disorder characterized by congenital anomalies and intellectual disability with a long term memory deficit.
- Trial name
- GENEPI (NCT04122742)
- Testing
- skin biopsy for the primary fibroblast culture and a 15 ml blood sample (3 unnamed samples of 5ml) in each of the 4 SRT patients included., Generation of Induced Pluripotent Stem Cells (iPSC) from fibroblasts obtained by skin biopsy, Histone acetylation profiles of cells of SRT patients with CREBBP mutations
- Where
- France
- Volunteers
- 154 people
- Sponsor
- University Hospital, Bordeaux
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
Malaria,Falciparum, Malaria in Pregnancy
Plasmodium Falciparum Genomic Intelligence in Mozambique
Mozambique is among the ten countries with the highest burden of malaria worldwide, with an estimated 9.3 million cases in 2018, and constitutes a core target for the World Health Organization (WHO) and the Roll Back Malaria…
- Conditions
- Malaria,Falciparum, Malaria in Pregnancy, Malaria
- Trial name
- GenMoz (NCT05306067)
- Testing
- LDH-based malaria rapid diagnostic test, Malaria rapid diagnostic test
- Where
- Mozambique
- Volunteers
- 21,848 people, healthy volunteers welcome
- Sponsor
- Centro de Investigacao em Saude de Manhica
Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue, Pyoderma Gangrenosum
Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
This study investigates the genetic architecture of Neutrophil-Mediated Inflammatory Skin Diseases. After collecting informed consent, all patients' clinical phenotype is graded at inclusion with a detailed case report form and a…
- Conditions
- Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue, Pyoderma Gangrenosum, Erosive Pustular Dermatosis of the Scalp, Sweet's Syndrome
- Trial name
- NEUTROGENE (NCT01952275)
- Testing
- Collection of biological samples
- Where
- Switzerland
- Volunteers
- 600 people
- Sponsor
- University of Zurich
Harboring of Unexpected Genetic Variant
Reverse Phenotyping Core
Background: Genes tell a person's body how to grow and work. All people have variations in their genes. Some of these cause differences that show up in a person's traits or their health, others do not.
- Trial name
- NCT03632239
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Neurofibromatosis Type 1, Pediatric Brain Tumor
Neurofibromatosis Type 1 Brain Tumor Genetic Risk
This study will analyze DNA samples to determine associations between maternal and offspring genetic factors and pediatric brain tumor development in children with Neurofibromatosis Type 1.
- Trial name
- NCT01707836
- Where
- United States
- Volunteers
- 176 people
- Sponsor
- Washington University School of Medicine
Vacterl Association, Congenital Malformation
Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway
Researchers are trying to identify versions of genes as well as factors in subjects blood associated with certain types of congenital malformations(CMs).
- Trial name
- NCT03799705
- Where
- United States
- Volunteers
- 132 people
- Sponsor
- Mayo Clinic
Williams Syndrome, Duplication
Defining the Brain Phenotype of Children With Williams Syndrome
Background: Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7q11.23 genetic variation change during this period.
- Trial name
- NCT01132885
- Where
- United States
- Volunteers
- 415 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)