Clinical trials: Rare Bleeding Disorders
Thrombotic Thrombocytopenic Purpura (TTP), Immune Thrombotic Thrombocytopenic Purpura
Retrospective Epidemiological Study of Patients in the National Cohort of the French TMA Center
Immune thrombotic thrombocytopenic purpura (iTTP) is a rare, life-threatening disorder characterized by microangiopathic hemolytic anemia, severe thrombocytopenia, and ischemic organ damage due to microvascular thrombosis.
- Conditions
- Thrombotic Thrombocytopenic Purpura (TTP), Immune Thrombotic Thrombocytopenic Purpura, Thrombotic Microangiopathies, Microangiopathy, Thromboic
- Trial name
- TWILIGHT (NCT07205861)
- Where
- France
- Volunteers
- 1,200 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Myeloproliferative Disease, Polycythemia Vera
ENERGIA: Personalized Exercise Program for Fatigue in Patients With Myeloproliferative Neoplasms and Chronic Myeloid Leukemia
This study evaluates whether a personalized, supervised exercise program can improve fatigue and physical function in patients with myeloproliferative neoplasms (MPN) and chronic myeloid leukemia (CML).
- Conditions
- Myeloproliferative Disease, Polycythemia Vera, Thrombocythemia Essential, Myelofibrosis, Primary
- Trial name
- ENERGIA (NCT07518940)
- Testing
- Participants will take part in a 12-week exercise program that includes aerobic and resistance training, tailored to their individual fitness level and clinical condition.
- Where
- Italy
- Volunteers
- 25 people
- Sponsor
- Carmen Fava
Hereditary Hemorrhagic Telangiectasia, Ectasia
Phase II Pilot Study of Octreotide, a Somatostatin Octapeptide Analog, for Gastrointestinal Hemorrhage in Hormone-Refractory Hereditary Hemorrhagic Telangiectasia and Senile Ectasia
OBJECTIVES: I. Evaluate the efficacy of octreotide, a somatostatin octapeptide analog, in decreasing gastrointestinal bleeding in patients with hormone-refractory hereditary hemorrhagic telangiectasia or senile ectasia.
- Trial name
- NCT00004327
- Testing
- octreotide
- Volunteers
- 8 people
- Sponsor
- National Center for Research Resources (NCRR)
Haemophilia
Defeat Rare Disease in Asia and Pacific (APAC) DRDA - Haemophilia
This study will help to better understand the course of disease in people with haemophilia (A or B [with or without inhibitors]) and the haemophilia care scenario in the selected countries and the experience so far in dealing…
- Trial name
- NCT07163260
- Testing
- No treatment given
- Where
- 4 sites in India, Malaysia and 2 more
- Volunteers
- 244 people
- Sponsor
- Novo Nordisk A/S
Cystic Fibrosis, Hemophilia A
Medication Adherence and Non-adherence in Adults With Rare Disease
The purpose of this study is to use the Medication Adherence Reasons Scale (MAR-Scale) to determine the extent of non-adherence to specific medications indicated to treat cystic fibrosis, hemophilia (A or B), idiopathic pulmonary…
- Conditions
- Cystic Fibrosis, Hemophilia A, Hemophilia B, Idiopathic Pulmonary Fibrosis
- Trial name
- NCT04541875
- Testing
- MAR-Scale
- Volunteers
- healthy volunteers welcome
- Sponsor
- Xperiome
Hematologic Disorder, Bleeding Disorder
ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders
In parallel with the growth of ATHN's clinical studies, the number of new therapies for all blood disorders is increasing significantly.
- Conditions
- Hematologic Disorder, Bleeding Disorder, Connective Tissue Disorder, Hemophilia
- Trial name
- NCT04398628
- Where
- 76 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- American Thrombosis and Hemostasis Network
Rare Bleeding Disorders
Rare Bleeding Disorders in the Netherlands
Rationale: Rare bleeding disorders (deficiency of fibrinogen, factor II, V, V\&VIII, VII, X, XI, XIII, α2-antiplasmin or plasminogen activator inhibitor 1) are not well defined with respect to their clinical phenotype, laboratory…
- Trial name
- RBIN (NCT03347591)
- Testing
- WES, Several assays
- Where
- 7 sites in Netherlands
- Volunteers
- 300 people
- Sponsor
- Radboud University Medical Center
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
Hemophilia B, Factor IX Deficiency
Phase I/II Study of Monoclonal Factor IX Concentrate for Factor IX Deficiency
OBJECTIVES: Assess the safety and long-term efficacy of monoclonal factor IX concentrate in patients with factor IX deficiency.
- Trial name
- NCT00004801
- Testing
- monoclonal factor IX replacement therapy
- Volunteers
- 3 people
- Sponsor
- National Center for Research Resources (NCRR)
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Idiopathic Pulmonary Fibrosis
23andMe IPF Research Study
The long term goal of this study is to increase genetic understanding of IPF to enable the development of an effective drug for IPF that can improve the lives of those living with the condition.
- Trial name
- IPF (NCT05028894)
- Testing
- No intervention
- Where
- United States
- Volunteers
- 690 people
- Sponsor
- 23andMe, Inc.
Hereditary Cystatin C Amyloid Angiopathy (HCCAA), Hemorrhage Brain
Safety, Tolerability and Efficacy of NPI-001 in Patients With Hereditary Cystatin C Amyloid Angiopathy (HCCAA)
The study aims to measure safety, tolerability and biomarker-based efficacy of NPI-001 (AT-001) in Subjects with Hereditary Cystatin C Amyloid Angiopathy (HCCAA).
- Conditions
- Hereditary Cystatin C Amyloid Angiopathy (HCCAA), Hemorrhage Brain, Hemorrhage Cerebral
- Trial name
- HCCAA (NCT07716865)
- Testing
- NACA
- Where
- Iceland
- Volunteers
- 15 people
- Sponsor
- Arctic Therapeutics
Polycythemia Vera, ET (Essential Thrombocythemia)
MPN PROGRESSion Registry: Observational Study Tracking Symptoms, Treatments, and Disease Progression in People With Myeloproliferative Neoplasms (MPNs)
The MPN PROGRESSion Registry is a multi-year, observational research study designed to improve understanding of myeloproliferative neoplasms (MPNs)-a group of rare, chronic blood cancers that include polycythemia vera (PV)…
- Conditions
- Polycythemia Vera, ET (Essential Thrombocythemia), Polycythemia Vera (PV), Essential Thrombocythemia (ET)
- Trial name
- NCT07362225
- Where
- 2 sites in United States
- Volunteers
- 5,000 people
- Sponsor
- MPN Research Foundation
Purpura, Thrombocytopenic, Idiopathic
Phase II Study of Rituximab in Patients With Immune Thrombocytopenic Purpura
OBJECTIVES: I. Determine the response rate and response duration to rituximab in patients with immune thrombocytopenic purpura. II. Evaluate the toxicity associated with this treatment regimen in these patients. III.
- Trial name
- NCT00005652
- Testing
- rituximab
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Alabama at Birmingham
Telemedicine, Exercise
Feasibility of a Blended Therapy Approach
Exercise is an important part of therapy guidelines in the rehabilitation of rare diseases (RDs) as Haemophilia and Myositis. The aim of this study is not to evaluate a new therapy intervention, but to evaluate the delivery of…
- Conditions
- Telemedicine, Exercise, Feasibility, Myositis
- Trial name
- bletheRD (NCT03713151)
- Testing
- Dividat FIT
- Where
- Switzerland
- Volunteers
- 30 people
- Sponsor
- University of Zurich
Anemia, Bone Marrow Failure
European Rare Blood Disorders Platform (ENROL)
ENROL, the European Rare Blood Disorders Platform has been conceived in the core of ERN-EuroBloodNet as an umbrella for both new and already existing registries on Rare Hematological Diseases (RHDs).
- Conditions
- Anemia, Bone Marrow Failure, Bleeding Disorder, Iron Metabolism Disorders
- Trial name
- ENROL (NCT06250595)
- Testing
- Collection of clinical and laboratory data from EHR.
- Where
- Spain
- Volunteers
- 37,090 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Purpura, Schoenlein-Henoch, Graft Versus Host Disease
Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases
OBJECTIVES: I. Determine whether there is prompt engraftment after autologous peripheral blood stem cell transplantation using filgrastim (G-CSF) mobilization in patients with life threatening autoimmune diseases. II.
- Conditions
- Purpura, Schoenlein-Henoch, Graft Versus Host Disease, Anemia, Hemolytic, Autoimmune, Rheumatoid Arthritis
- Trial name
- NCT00006055
- Testing
- anti-thymocyte globulin, cyclophosphamide, cyclosporine
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Fairview University Medical Center
Hemophilia, Factor XIII Deficiency
Clinical Trial of Factor XIII (FXIII) Concentrate
Congenital deficiency of Factor XIII is a rare but potentially life threatening disorder. It is inherited in an autosomal recessive fashion.
- Trial name
- NCT00640289
- Testing
- Fibrogammin P
- Where
- United States
- Volunteers
- 72 people
- Sponsor
- Children's Hospital of Orange County
Von Willebrand's Disease
Phase I Study of Human Von Willebrand Factor for Von Willebrand's Disease
OBJECTIVES: I. Evaluate the effect of a new von Willebrand factor concentrate on bleeding time, in vivo recovery, and circulating half-life of the infused factor in patients with von Willebrand's disease. II.
- Trial name
- NCT00004667
- Testing
- von Willebrand factor
- Volunteers
- 10 people
- Sponsor
- National Center for Research Resources (NCRR)
X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome
Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders
OBJECTIVES: I. Identify the molecular defects responsible for primary immunodeficiency disorders. II. Explore the mutations within each syndrome to better understand the genetics of these disorders. III.
- Conditions
- X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome, Wiskott-Aldrich Syndrome, Leukocyte Adhesion Deficiency Syndrome
- Trial name
- NCT00004341
- Where
- United States
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)