Wiskott-Aldrich Syndrome

Researchers are studying people with various non-cancerous blood disorders to better understand the long-term safety and effectiveness of treatments used for these conditions. This observational study aims to collect consistent and high-quality data over time from patients with congenital or acquired hematologic and connective tissue disorders that cause bleeding or clotting problems. It addresses the need for reliable long-term information beyond initial drug approval trials and includes multiple disease-specific groups for comprehensive research. Participants will join one of several cohorts based on their specific blood disorder, such as hemophilia, von Willebrand disease, congenital platelet disorders, rare bleeding disorders, thrombosis/thrombophilia, or other non-neoplastic hematologic conditions. The study includes several arms and modules focusing on different therapies or patient groups, like previously untreated patients, gene therapy outcomes, and treatment with specific drugs (e.g., ALTUVIIIO® or Hemlibra®). Data collection occurs at enrollment and regularly every six months and annually, with additional data gathered as needed. During the study, participants will undergo various assessments including medical history, treatment records, bleeding event tracking, and biospecimen collection for future research. The study will follow participants for at least 15 years to monitor therapy safety and effectiveness. Researchers will analyze dosing patterns, bleeding rates, and real-world treatment outcomes while maintaining long-term participant follow-up and data quality.

Researchers are gathering health information from people with blood disorders to better understand their quality of life and health outcomes. This observational study collects detailed data to help doctors, scientists, and policymakers find better ways to treat blood disorders like hemophilia, thrombosis, sickle cell disease, and others. The study is supported by the American Thrombosis and Hemostasis Network (ATHN) and aims to answer important scientific and public health questions. Participants' health data will be collected and regularly updated in a secure registry called the ATHNdataset. Information includes demographics, diagnosis details, family history, physical exams, vital signs, lab and genetic tests, imaging results, medications, treatments, surgeries, immunizations, and patient-reported outcomes. Data is gathered from routine care visits at ATHN Affiliate centers and may be used for research, advocacy, safety monitoring, and quality improvement projects. Participants will share their health information through encounters with ATHN Affiliate care providers. The study team will analyze this comprehensive data over 15 to 20 years to support clinical care and public health reporting for the blood disorders community. All relevant health details, questionnaires, and treatment information are securely stored and used to improve understanding and management of blood disorders.

This research aims to identify specific biological patterns in patients who experience bleeding of unknown cause and to study the underlying mechanisms for each patient group. It is a prospective cohort study comparing these patients to a control group of healthy individuals without bleeding tendencies. The study is being conducted by the University Hospital in Geneva and spans over several years to gain insight into this complex bleeding disorder. Participants include patients with unexplained bleeding and healthy volunteers as controls. At the start, blood samples are taken from all participants to evaluate various aspects of blood clotting, such as fibrin clot polymerization, permeability, fibrinolysis, thrombin generation, and platelet coating. These diagnostic tests help researchers analyze the differences between patients and controls. The study follows participants for three years to observe bleeding episodes and other health outcomes. During the study, participants will undergo several assessments including blood tests, quality of life questionnaires, and bleeding evaluations using recognized tools like the ISTH bleeding assessment tool. Researchers will monitor major and non-major bleeding episodes over three years. The study also collects detailed laboratory data at inclusion, such as fibrinogen levels and clot structure imaging. This comprehensive follow-up helps researchers understand the natural course and impact of bleeding disorders over time.

Researchers are evaluating the use of early genomic testing in patients suspected of having inherited bleeding disorders who have not received a diagnosis after initial standard testing. This study aims to find out if adding genomic testing early in the diagnostic process increases diagnosis rates, reduces time to diagnosis, and is cost-effective compared to standard testing alone. The trial will compare two groups: one receiving standard testing plus early genomic testing, and the other receiving standard testing with optional genomic testing after one year. Participants randomly assigned to the early genomic testing group will undergo genetic analysis using a panel of genes associated with rare coagulation, platelet, connective tissue, and bleeding disorders. The control group will receive the standard diagnostic evaluation but may be offered genomic testing after twelve months if still undiagnosed. This setup allows researchers to directly compare outcomes between early and delayed genomic testing. During the study, participants will be monitored for diagnostic outcomes, including the number of confirmed diagnoses within one year, time taken to reach diagnosis, patient burden, and quality of life related to health. Economic evaluations such as cost-effectiveness and budget impact will be assessed over two years. The total participation duration includes follow-up assessments to evaluate these outcomes and support understanding of the value of early genomic testing in this patient population.

Researchers are developing the European Rare Blood Disorders Platform (ENROL) to unify and improve data collection on Rare Hematological Diseases (RHDs) across Europe. This platform aims to reduce fragmentation by connecting new and existing patient registries, promoting data sharing standards, and protecting patient confidentiality. ENROL focuses on mapping demographics, diagnosis methods, genetic data, clinical features, and treatments to support research and healthcare planning for over 450 different rare blood disorders, including inherited and acquired conditions such as anemia, bone marrow failures, bleeding disorders, and blood cancers. The platform integrates retrospective and prospective patient data from healthcare providers and existing national or local registries. Data are collected at the time of inclusion and updated annually to monitor disease trends and support research. ENROL supports varying levels of data detail, from aggregated counts for epidemiological surveillance to pseudonymized individual patient data for research and clinical trial identification. Patients are grouped by specific rare blood disorder categories such as inherited anemia, acquired bone marrow failure, bleeding disorders, iron metabolism disorders, myeloid malignancies, and lymphoid malignancies. Participants include males and females aged 0 to 100 years diagnosed with RHDs per ORPHANET classification. Data collection includes clinical and laboratory information from electronic health records and other registries. The study monitors demographic and epidemiological outcomes over 15 years, with ongoing data pooling and analysis to improve understanding and care of rare blood disorders. Participation involves providing informed consent and allowing data sharing under strict privacy and data protection regulations, with no expected end date for the platform’s operation and data collection.

This research aims to better understand heavy menstrual bleeding (HMB) in adolescents and young adults who have inherited bleeding disorders. It focuses on how two commonly used hormonal treatments for menstrual suppression—levonorgestrel-releasing intrauterine device (LNG-IUD) and oral norethindrone acetate (NETA)—affect bleeding outcomes, patient satisfaction, changes in blood clotting parameters, and quality of life over six months. The study also compares results from those using LNG-IUD with individuals without bleeding disorders to better understand treatment benefits and expected outcomes in this population. Participants will choose to start either the LNG-IUD, a device that releases levonorgestrel hormone, or daily oral norethindrone acetate at 5 mg. The study includes three groups: those with bleeding disorders using LNG-IUD, those without bleeding disorders using LNG-IUD, and those with bleeding disorders using NETA. The study observes the treatments prospectively without assigning them randomly, focusing on real-world use. Researchers will track treatment success, bleeding management, quality of life, iron levels, and blood clotting changes over six months. During the study, participants will complete assessments including bleeding diaries using the Pictorial Blood Loss Assessment Chart, quality of life questionnaires specific to adolescents and young adults, and blood tests to measure iron and clotting factors before and after treatment. The study will also monitor device continuation and expulsion rates for LNG-IUD users. The total participation period involves six months of observation and data collection to evaluate treatment outcomes and effects on diagnostic testing for bleeding disorders.

This research aims to observe mother-child pairs affected by hemophilia A, focusing on severe hemophilia A cases from pregnancy through early childhood. The study seeks to understand risks for bleeding during pregnancy and postpartum in mothers with severe hemophilia A, as well as the development of antibodies against factor VIII (anti-FVIII) in their children. It also evaluates genetic and environmental factors influencing bleeding and immune responses, including data from blood relatives. The study is a national, prospective, observational cohort conducted mostly through decentralized methods and one hybrid site. It plans to enroll approximately 120 pregnant mothers at risk of severe hemophilia A and follow about 50 mother-child pairs through at least the first 2 years of the child's life. Biological samples such as blood, saliva, and others will be collected at multiple time points during pregnancy, delivery, and early childhood. Blood relatives of the child may also participate to provide additional genetic data. Participants will provide medical records, complete questionnaires, and submit biological samples longitudinally. Mothers will track bleeding and medical events, while children will have blood drawn at scheduled intervals to monitor immune development and factor VIII inhibitor formation. Data collection includes health records, patient-reported outcomes, and environmental information to support future research. Participation may last from 2.2 to 5 years, ending when the child reaches a set exposure to factor VIII or the study concludes.

This research aims to evaluate how well hormonal medications such as contraceptive pills, patches, injectable progestins, and hormonal intra-uterine devices manage heavy menstrual bleeding in adolescents and young adults with and without bleeding disorders. The study also looks at quality of life, hemoglobin, and iron levels in these groups. It is a prospective observational cohort study conducted by University Hospital, Geneva. Participants are adolescents and young adults under 26 years old who experience heavy menstrual bleeding and agree to start hormonal medication to reduce menstrual flow. The study compares those with bleeding disorders to those without over a follow-up period of 1 year. Hormonal medication is initiated at the start, and participants are observed throughout this time. During the study, participants complete questionnaires and have blood tests at baseline, 3, 6, and 12 months to track menstrual blood loss reduction, quality of life, hemoglobin, ferritin, and thrombin generation markers. Researchers monitor the percentage reduction in menstrual bleeding at 3, 6, and 12 months after starting medication. This detailed follow-up helps understand treatment impact on health and wellbeing over time.

Researchers are conducting a multicenter, prospective, longitudinal observational study to investigate thrombosis and hemostasis diseases in Chinese patients. These conditions include various bleeding and clotting disorders such as immune thrombocytopenia, thrombotic thrombocytopenic purpura, hemophilia, disseminated intravascular coagulation, thrombophilia, deep vein thrombosis, and pulmonary embolism. The study aims to analyze incidence, risk factors, treatment methods, prognosis, and medical expenses because current knowledge is limited by small sample sizes and lacks comprehensive large-scale data. This study collects patients' basic information, diagnostic and treatment details, and medical expense data from medical records. It uses questionnaires to assess patient exposures and follows patients prospectively to gather prognosis information over time. The study involves ongoing observation without any experimental treatment or intervention. Participants will have their medical records reviewed and complete questionnaires measuring exposure. Researchers will monitor outcomes such as prognosis over five years, incidence and distribution of diseases, treatment response, long-term remission rates, treatment safety, and health economic factors. The study includes follow-up assessments to gather comprehensive data on patient health and care costs, lasting up to five years.

Researchers are conducting a large-scale, long-term observational study to better understand major blood diseases in China. This study aims to analyze the incidence, risk factors, treatments, prognosis, and medical costs related to various hematological conditions such as acute myeloid leukemia, multiple myeloma, hemophilia, aplastic anemia, leukemia, myelodysplastic syndrome, lymphoma, bleeding disorders, autoimmune hemolytic anemia, and others. The study includes patients who have received bone marrow transplantation and fills a gap due to limited prior cohort data in China. The study collects information from patients diagnosed with these blood diseases in participating hospitals starting from January 1, 2020. It gathers data prospectively and retrospectively from medical records, including basic patient information, diagnosis, treatment details, prognosis, and medical expenses. The NICHE registry includes historical data from 2000 and continues to collect prospective follow-up data in phases, broadening its reach. Participants' data will be monitored over at least five years to assess the incidence and distribution of blood diseases, evaluate treatments, and analyze healthcare costs. The study does not involve experimental treatments but focuses on collecting and analyzing real-world clinical information. Researchers will use this data to better understand disease patterns and outcomes, with follow-ups planned to gather ongoing prognosis details and economic evaluations.