Clinical trials: Molecular Causes
Genetic Skeletal Diseases, Skeletal Dysplasia
Decoding the Genetic Landscape of Skeletal Diseases
This 5-year project aims to (1) search for genetic causes for yet unsolved congenital skeletal disorders (GSDs); (2) study consequences of the newly identified pathogenic variants in cells and in transgenic mice, (3) summarize…
- Conditions
- Genetic Skeletal Diseases, Skeletal Dysplasia, Molecular Causes, Skeletal Disorder
- Trial name
- SKDLAND (NCT05876416)
- Where
- Sweden
- Volunteers
- 450 people, healthy volunteers welcome
- Sponsor
- Karolinska Institutet
Rett Syndrome
New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization
Rett syndrome (RTT) is a genetic encephalopathy and the typical form is caused by mutations in the gene MECP2. It is a genetically heterogeneous pathology.
- Trial name
- RETT (NCT02885090)
- Testing
- Blood sampling
- Where
- 9 sites in France
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- Central Hospital, Nancy, France
Enterobacteriaceae Infections, Bacteremia
Infections Caused by ESbL-Producing Enterobacteriaceae in Italy
To assess the molecular epidemiology, clinical impact, treatment outcome and risk factors for infections caused by Enterobacteriaceae producing ESBLs in Italy in a large multicenter observational survey. SPECIFIC OBJECTIVES 1.
- Conditions
- Enterobacteriaceae Infections, Bacteremia, Pneumonia, Skin Diseases
- Trial name
- NCT00404625
- Testing
- Risk factors for infections due to ESBL+ Enterobacteriaceae, Risk factors for inadequate initial antimicrobial therapy, Overall and 30-day mortality in bad first antibiotic therapy
- Where
- 6 sites in Italy
- Volunteers
- 813 people
- Sponsor
- University of Siena
Spastic Ataxia
Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias
The aim of this study is to determine the clinical spectrum and natural progression of Spastic Ataxias (SPAX) and related disorders in a prospective multicenter natural history study, identify digital, imaging and molecular…
- Trial name
- SPAX-PBP (NCT04297891)
- Testing
- Clinical rating scale to measure Ataxia disease severity and progression, Clinical rating scale to measure spastic paraplegia disease severity and progression, Disease-specific severity index for adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
- Where
- 9 sites in Canada, France and 5 more
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Dr. Rebecca Schule
Hereditary Spastic Paraplegia
Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
The aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias (HSP) and related disorders in a prospective multicenter natural history study, identify digital, imaging and…
- Trial name
- HSP-PBP (NCT03981276)
- Testing
- Clinical rating scale to measure disease severity and progression, Next-Gen Sequencing (NGS)
- Where
- 13 sites in Austria, Germany and 1 more
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Dr. Rebecca Schule
Hereditary Diseases
Study of Clinical and Molecular Manifestations of Genetic Disorders
This study will investigate the cause and natural history (medical problems that appear over time) of certain genetic disorders.
- Trial name
- NCT00001466
- Where
- United States
- Volunteers
- 1,200 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Cushing's Syndrome, Healthy
Study of Cushing's Syndrome Not Related to ACTH Production
This study is designed to provide information about the cause of two unusual types of Cushing's syndrome and to evaluate quality of life before and after cure of the disease.
- Trial name
- NCT00006278
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Focal Segmental Glomerulosclerosis, Nephrotic Syndrome
Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney Failure
The investigators are trying to learn more about the cause of kidney diseases such as Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic syndrome by studying genetics.
- Conditions
- Focal Segmental Glomerulosclerosis, Nephrotic Syndrome, End Stage Renal Disease, Kidney Failure
- Trial name
- FSGS (NCT02194582)
- Where
- United States
- Volunteers
- 2,050 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Thrombocytopenia, Inherited Platelet Disorder
Characterization of New Candidate Genes in Cases of Human Inherited Thrombocytopenia (CATCH)
Circulating blood platelets are small cellular elements that help to control bleeding (a process called hemostasis) and to avoid hemorrhage when blood vessels are injured.
- Trial name
- CATCH (NCT04272970)
- Testing
- Validation of a new gene / protein variant implicated in familial CT
- Where
- 2 sites in France
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Severe Intellectual Disability
Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
Intellectual disability (ID) moderate or severe affects about one child in 250, with 3000 to 4000 new cases each year. Chromosomal or molecular pathology causes are not identified in half of the cases by current techniques.
- Trial name
- HUGODIMS (NCT02136849)
- Where
- 5 sites in France
- Volunteers
- 228 people
- Sponsor
- Nantes University Hospital
Brain Tumor, Glioma
The Etiology and Progression of Brain Tumors
The main goal of the study is to present a framework, which integrates DNA, RNA and tissue data to identify and prioritize genetic events that represent clinically relevant new therapeutic targets and prognostic biomarkers for…
- Conditions
- Brain Tumor, Glioma, Meningioma
- Trial name
- NCT01811524
- Volunteers
- 2,000 people
- Sponsor
- Tampere University Hospital
Hypogonadotropic Hypogonadism, Kallmann Syndrome
Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders
The aims of this study are: 1) to identify genes that play a role in human pubertal development and reproduction, 2) to characterize the phenotypic spectrum of patients with these gene defects, and 3) to discern the mode of…
- Conditions
- Hypogonadotropic Hypogonadism, Kallmann Syndrome, Puberty, Delayed, Puberty, Precocious
- Trial name
- NCT00494169
- Where
- United States
- Volunteers
- 4,042 people
- Sponsor
- Massachusetts General Hospital