Clinical trials: Familial Platelet Disorder
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)
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
Perimenopausal Disorder, Menopause
Inovium Ovarian Rejuvenation Trials
The Inovium Ovarian Rejuvenation Treatment is a PRP-based autologous treatment used in combination with a stimulated IVF sequence and Pre-Implantation Genetic Screening to treat infertility in women experiencing menopause…
- Conditions
- Perimenopausal Disorder, Menopause, Menopause, Premature, Menopause Related Conditions
- Trial name
- NCT03178695
- Testing
- Autologous PRP injection into human ovarian tissue
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Ascendance Biomedical
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
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)
Pulmonary Artery Hypertension, Chronic Thromboembolic Pulmonary Hypertension
Assessment of Blood Coagulation Disorders in Patients With Pulmonary Hypertension
The objective of the present study is to assess blood coagulation disorders in patients with Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension.
- Trial name
- NCT03195543
- Testing
- Platelet function analyzer-100, Light transmission aggregometry, Rotational thromboelastometry
- Where
- Greece
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National and Kapodistrian University of Athens
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
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