Clinical trials: Familial Platelet Disorder, open to volunteers
Familial Platelet Disorder, Hematopoietic
Low-Dose Sirolimus to Increase Hematopoietic Function in Patients With RUNX1 Familial Platelet Disorder
To learn about the safety and effects of low-dose sirolimus in participants with RUNX1-FPD.
- Trial name
- NCT06261060
- Testing
- Sirolimus
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- M.D. Anderson Cancer Center
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 Bone Marrow Failure Syndrome, Familial Platelet Disorder With Predisposition to Myeloid Malignancies
Imatinib to Increase RUNX1 Activity in Participants With Germline RUNX1 Deficiency
Background: Runt-related transcription factor 1 (RUNX1) gene regulates the formation of blood cells. People with mutations of this gene may bleed or bruise easily; they are also at higher risk of getting cancers of the blood…
- Trial name
- NCT06090669
- Testing
- TruSight Oncology, imatinib
- Where
- United States
- Volunteers
- 71 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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)
Polycythemia Vera, Essential Thrombocythaemia
Prevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
Philadelphia-negative myeloproliferative neoplasms (MPNs) occur sporadically and are due to somatic mutations in the JAK2 (Janus kinase 2), CALR (calreticulin) and MPL (thrombopoietin receptor) genes.
- Conditions
- Polycythemia Vera, Essential Thrombocythaemia, Myelofibrosis
- Trial name
- NCT06923670
- Testing
- NGS testing, NGS analysis for mutations in genes involved in familial predisposition to hematological malignancies
- Volunteers
- 496 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
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
Peyronie Disease, Penile Curvature
Platelet-Rich Plasma Injections From Cord Blood + Penile Traction vs. Penile Traction Alone in Patients With Peyronie's Disease. Open-label, Single-center Randomized Study
The goal of this clinical trial is to learn if Platelet-Rich Plasma Injections from Cord Blood (CB-PRP) is useful in Peyronie disease.
- Conditions
- Peyronie Disease, Penile Curvature, PRP Injection, Cord Blood
- Trial name
- CB-PRP-TRAC1 (NCT07010900)
- Testing
- Injection
- Where
- Italy
- Volunteers
- 42 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
RUNX1 Familial Platelet Disorder
Protocol Title: Safety and Feasibility of Autologous CD34+ Hematopoietic Stem Cells Mobilization and Apheresis in Participants With RUNX1 Familial Platelet Disorder
To evaluate the safety and feasibility of collecting hematopoietic stem cells (HSC) in participants with RUNX1-FPD.
- Trial name
- NCT06414889
- Testing
- G-CSF (filgrastim or biosimilar), Apheresis, Plerixafor
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Healthy, Hypercholesterolemia
In Vitro Demonstration of Direct Platelet-Related Effects of PCSK9 Enzyme
Proprotein convertase subtilisin/kexin type 9 (PCSK9) has evolved as a pivotal enzyme in lipid metabolism and therapeutic target for hypercholesterolemia and atherosclerotic cardiovascular disease (CVD).
- Conditions
- Healthy, Hypercholesterolemia, Hypertension, Overweight
- Trial name
- NCT06675994
- Testing
- PCSK9 Antibody, PCSK9 Enzyme
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- LifeBridge Health
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
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
Familial Platelet Disorder With Associated Myeloid Malignancy
Low-Dose Sirolimus for the Treatment of RUNX1 Familial Platelet Disorder
This phase I trial studies the safety and side effects of low-dose sirolimus in treating patients with RUNX1 familial platelet disorder (FPD).
- Trial name
- NCT07844694
- Testing
- Biospecimen Collection, Bone Marrow Aspiration, Bone Marrow Biopsy
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- OHSU Knight Cancer Institute