Clinical trials: Molecular Causes
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
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
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
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
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