Clinical trials: Familial Platelet Disorder
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Androgenetic Alopecia, Hair Loss
Efficacy of Platelet-Rich Plasma Versus Mesotherapy in Androgenetic Alopecia: A Retrospective Study
This is a comparative retrospective study of the efficacy of platelet-rich plasma injections and injections with commercial products advertised to promote hair regrowth for patients with androgenetic alopecia.
- Conditions
- Androgenetic Alopecia, Hair Loss, Alopecia
- Trial name
- NCT05129800
- Testing
- Platelet-rich plasma, Mesotherapy
- Volunteers
- 72 people
- Sponsor
- Faculty Hospital Kralovske Vinohrady
Polycythemia, Thrombocytosis
Molecular Biology of Polycythemia and Thrombocytosis
Our study is designed to characterize the clinical picture and genetic pattern of Polycythemia and Thrombocytosis. The purpose of this project is to find a gene and its mutation that causes these disorders.
- Trial name
- NCT00722527
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- University of Utah
Thrombotic Thrombocytopenic Purpura, Congenital Thrombotic Thrombocytopenic Purpura
Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)
Hereditary thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) is a rare disorder characterized by thrombocytopenia as a result of platelet consumption, microangiopathic hemolytic anemia, occlusion of the…
- Conditions
- Thrombotic Thrombocytopenic Purpura, Congenital Thrombotic Thrombocytopenic Purpura, Familial Thrombotic Thrombocytopenic Purpura, Thrombotic Thrombocytopenic Purpura, Congenital
- Trial name
- TTP registry (NCT01257269)
- Testing
- Observation
- Where
- 7 sites in United States, Austria and 5 more
- Volunteers
- 450 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Inherited Hematological Diseases, Rare Diseases
Longitudinal Studies of Patient With FPDMM
Background: Genes tell the body and its cells how to work. Familial platelet disease (FPD) or FPD with associated malignancies (FPDMM) is caused by a variant in the gene RUNX1.
- Conditions
- Inherited Hematological Diseases, Rare Diseases, FPDMM
- Trial name
- NCT03854318
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association
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
Polycythemia Vera, Essential Thrombocythemia
Familial Myeloproliferative Disorders
Myeloproliferative disorders occur in families, thus giving rise to the theory that it is a genetic disease that may be caused by an abnormal gene in the DNA that can be passed from one generation of family members to another.
- Conditions
- Polycythemia Vera, Essential Thrombocythemia, Idiopathic Myelofibrosis
- Trial name
- NCT00666289
- Where
- 6 sites in United States, Italy
- Volunteers
- 17 people
- Sponsor
- Icahn School of Medicine at Mount Sinai