Clinical trials: Familial Platelet Disorder
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
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
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
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
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
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
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
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)
Diabetic Foot Ulcers
Evaluate the Safety and Efficacy of RegenKit Autologous PRP Gel for the Treatment of Diabetic Foot Ulcer
Autologous platelet-rich plasma (PRP) gel was reported to have very good outcomes in the treatment of foot ulcers in pilot studies and retrospective uncontrolled trials.
- Trial name
- NCT02402374
- Testing
- Autologous platelet rich plasma gel
- Where
- United States
- Volunteers
- 192 people
- Sponsor
- Regen Lab SA
Olfactory Disorder, Olfaction Disorders
Intranasal Injection of PRP Versus Saline for Treatment of Olfactory Dysfunction
This randomized clinical trial will evaluate the benefit of platelet-rich plasma (PrP) in the treatment of olfactory dysfunction.
- Conditions
- Olfactory Disorder, Olfaction Disorders, Olfactory Nerve Injuries, Olfactory Nerve Disorder
- Trial name
- NCT04406584
- Testing
- Injection into olfactory cleft
- Where
- 2 sites in United States
- Volunteers
- 30 people
- Sponsor
- Stanford University
Tennis Elbow, Lateral Epicondylitis
Leukocyte-Poor Platelet-Rich Plasma Reduces Pain Symptoms in the Treatment of the Lateral Epicondylitis
Lateral epicondylar tendinopathy (LET), or tennis elbow, is a degenerative condition affecting the forearm's extensor tendons. It commonly leads to pain, reduced grip strength, and impaired function, particularly in individuals…
- Conditions
- Tennis Elbow, Lateral Epicondylitis, Lateral Epicondylitis (tennis Elbow), PRP Injection
- Trial name
- LET (NCT06854666)
- Testing
- effectiveness of platelet-rich plasma (PRP) in treating lateral epicondylar tendinopathy (LET)
- Where
- Poland
- Volunteers
- 72 people
- Sponsor
- Rehasport Clinic
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)
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
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
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
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
Chronic Myeloproliferative Disorders, Leukemia
Alemtuzumab and Combination Chemotherapy Followed By Donor Lymphocytes in Treating Patients Who Are Undergoing Donor Stem Cell Transplant for Hematologic Cancer
RATIONALE: Giving low doses of chemotherapy before a donor peripheral blood stem cell transplant helps stop the growth of cancer cells. It also stops the patient's immune system from rejecting the donor's stem cells.
- Conditions
- Chronic Myeloproliferative Disorders, Leukemia, Lymphoma, Myelodysplastic Syndromes
- Trial name
- NCT00104975
- Testing
- alemtuzumab, therapeutic allogeneic lymphocytes, fludarabine phosphate
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Yale University
Wound Healing, Anal Fistula
Platelet- Rich Plasma Injection
This randomized controlled study aims to investigate the effect of injection of platelet rich plasma on the postoperative outcome of perianal wound after anal fistula surgery in terms of healing time, reduction in wound size…
- Trial name
- prp (NCT06887166)
- Testing
- Platelet Rich Plasma
- Where
- Egypt
- Volunteers
- 100 people
- Sponsor
- Mansoura University
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
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