Hereditary Angioedema

Hereditary Angioedema (HAE) is a rare condition causing sudden swelling under the skin and inside the body, such as in the belly, throat, or genitals. This swelling results from a temporary leak in blood vessels and does not cause itching or hives. HAE is classified by the level of a blood protein called C1 inhibitor (C1-INH), with some patients having normal levels and others having limited or insufficient levels. This research focuses on children with HAE who have C1-INH deficiency and have been treated with lanadelumab as a preventive therapy. The study aims to understand how well lanadelumab works in real-life settings by measuring how long children remain free of HAE attacks. The study is observational and collects existing data from medical records of pediatric patients aged 2 to under 12 years who started long-term prophylaxis treatment with lanadelumab during routine care. No new treatments are given as part of the study. Researchers will analyze various outcomes over a period of up to 13 months, including attack rates, attack severity and location, treatment patterns, healthcare usage, and any side effects or reactions to the injections. Participants' involvement includes reviewing their medical history and treatment records to assess the effectiveness and safety of lanadelumab. The main outcome measured is the percentage of children who remain free of HAE attacks during the study period. Other important data include healthcare visits, hospital stays, and adverse events. The study will provide insights based on up to 13 months of follow-up information per participant without requiring additional visits or interventions.

Hereditary angioedema (HAE) is a rare condition causing sudden swelling under the skin and inside the body, such as in the belly, throat, or genitals. This swelling is due to temporary blood vessel leaks and does not cause itching or hives. The study focuses on people with HAE-C1INH Type 1 or 2 who have been using Takhzyro4 (lanadelumab) to prevent HAE attacks, aiming to evaluate how well this treatment reduces disease activity in everyday life after 6 to 12 months of use. This observational study will collect retrospective clinical data from medical records for participants diagnosed with HAE-C1INH Type 1 or 2 who started long-term prophylaxis with Takhzyro4. Data from before the first Takhzyro4 dose (pre-index) and at least 6 months after the first dose (post-index) will be examined to assess treatment outcomes. No new treatment will be given as part of the study. Participants' medical records will be reviewed to track changes in HAE activity scores, quality of life, and attack frequency before and after treatment, with data collected between September 2025 and February 2026. The study will also explore factors affecting treatment response. Follow-up can last up to 12 months after the first Takhzyro4 dose unless treatment stops, the patient dies, or is lost to follow-up.

Researchers are evaluating KLN-1010, a novel gene therapy, in patients with relapsed or refractory multiple myeloma to assess its safety, tolerability, and to determine the recommended Phase 2 dose. The trial is a Phase 1 study sponsored by Kelonia Therapeutics, Inc., focusing on patients who have previously undergone multiple treatments for their condition. Participants receive a single specified dose of KLN-1010, which is designed to generate anti-B Cell Maturation Antigen (anti-BCMA) CAR-T cells in the body. This gene therapy is administered once during the study, and its effects, including safety and pharmacokinetics, are closely monitored over time. During the study, participants undergo assessments for treatment-emergent adverse events and dose-limiting toxicities for up to 15 years after dosing. Pharmacokinetic evaluations of KLN-1010 and generated CAR-T cells occur up to two years post-infusion. Multiple myeloma status is monitored from dosing until disease progression or up to 15 years, with comprehensive safety and disease assessments throughout the follow-up period.

Researchers are evaluating the safety, pharmacokinetics, pharmacodynamics, and preliminary effectiveness of an anti-GPRC5D CAR-T cell product called OriCAR-017 in adults with relapsed or refractory multiple myeloma. This Phase I/II open-label study is the first clinical trial of OriCAR-017 in the United States by OriCell Therapeutics Co., Ltd., aiming to find suitable dosing and assess early treatment results in this patient group. The study includes a Phase I dose escalation stage with three different doses given as a single intravenous infusion to up to 18 participants. This is followed by a dose expansion stage with 10-15 participants and then a Phase II stage that may include up to 48 participants. Each participant receives one infusion of OriCAR-017 to evaluate its effects and safety. Participants will be closely monitored for up to two years after treatment. Researchers will assess the maximum tolerated dose and dose-limiting toxicities within 28 days after infusion. They will also study how the drug moves through and affects the body, measure response duration, progression-free survival, overall survival, and other response rates. Regular evaluations include laboratory tests, clinical assessments, and safety monitoring throughout the study period.

Researchers are evaluating Exl-111, a drug studied in a Phase 1 trial involving healthy adults aged 18 to 55. The trial aims to find suitable doses for future research by studying single and multiple ascending doses. It includes two parts: a single ascending dose (SAD) phase and a multiple ascending dose (MAD) phase. The study also compares Exl-111 with placebo and an active comparator called omalizumab. Participants are healthy volunteers with allergic disease markers but no active illness. In Part A (SAD), participants receive a single subcutaneous injection of Exl-111 or placebo and stay in the clinic for 5 days, with follow-up visits through 20 weeks. If safety data supports it, Part B (MAD) begins, where participants receive up to four subcutaneous doses of Exl-111, placebo, or omalizumab every 4 weeks. Participants stay in the clinic for several days around each dose and return for follow-up visits through 28 weeks. Throughout the study, participants undergo safety monitoring for adverse events and pharmacokinetic testing to assess drug levels in the blood. The primary outcome measures include treatment-emergent adverse events through Day 196. Secondary measures assess how the body absorbs and processes Exl-111. Participants complete clinic visits, safety labs, skin prick tests (Part B only), and other assessments to track effects and safety over the full duration of the trial.

Researchers are studying hereditary angioedema (HAE), a rare condition causing sudden swelling under the skin and inside the body, such as in the belly, throat, or genitals. This swelling is due to temporary blood vessel leakage and does not cause itching or hives. The study focuses on testing the effectiveness of measuring the function of a protein called C1-inhibitor (C1INH) alone to diagnose two types of HAE: HAE-C1INH-Type1 and HAE-C1INH-Type2, compared to the standard tests used in Algeria. The study also aims to establish a reference value for this test and collect health background information from participants. During the study, all participants will undergo two diagnostic methods: the new test measuring C1INH function alone (using the Technochrom C1-INH Kit) and the standard of care (SoC) tests, which include measuring C4 and C1-INH antigenic levels and function. For participants with new or conflicting test results, a second confirmatory test will be performed, and if needed, a third test. Participants suspected of HAE or family members of known HAE cases will be enrolled. They may visit the clinic up to three times, with no further follow-up planned after testing. Participants will provide health history data, including age at diagnosis, symptoms, diagnostic delays, and referral pathways. Researchers will measure the accuracy and reliability of the new test compared to standard methods. The main outcome is the sensitivity and specificity of the Technochrom test for diagnosing HAE. The study will last up to 12 months for each participant, with no additional long-term follow-up.

Researchers are conducting a nationwide registry in Armenia to observe and track systemic autoimmune and autoinflammatory diseases. These diseases involve abnormal immune system activity causing widespread inflammation and organ damage, often influenced by genetics and environmental factors. The study aims to better understand disease progression, which is usually measured by specific activity scores, and to gather detailed epidemiological and clinical data, as current knowledge in Armenia is limited. The study involves usual medical care for patients diagnosed with these systemic diseases, alongside collecting additional blood and stool samples for biobanking. Data collected include clinical exams, lab results, current treatments, and disease-specific activity scores reported by both patients and physicians. This observational registry will continue for about five years, assessing disease manifestations and evolution under treatment. Participants will be regularly evaluated through clinical and laboratory assessments, with data recorded on disease activity and progression. The study monitors systemic symptoms and uses disease-specific scores to track changes over time. Researchers will identify rare clinical forms and prognostic factors. The registry includes informed consent procedures and follows patients longitudinally to improve understanding of these complex diseases and their management.

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.

Researchers are studying how specific self-reactive antibodies called IgE autoantibodies develop in newborns, especially those at high risk for atopic dermatitis (AD) due to family history of asthma, hay fever, or eczema. This study aims to understand when these antibodies appear, how hereditary, lifestyle, and environmental factors influence their development, and their connection to the onset of AD during the first two years of life. The study follows a group of newborns born at the University Hospital Brussels, including 400 at high risk and 100 at low risk for AD. Researchers will collect umbilical cord blood at birth and conduct blood draws at 6, 12, and 24 months. Skin barrier function will be evaluated using non-invasive tests, and samples such as skin and stool swabs will be taken to study microbes. Questionnaires will gather environmental and lifestyle information, and disease scores will be assessed at follow-up visits. Participants will have five visits over two years: a prenatal baseline visit, birth visit within 72 hours, and follow-ups at 6, 12, and 24 months. The main measurement is the presence of IgE autoantibodies at birth. Researchers will monitor the development of AD, measure IgE levels, study hereditary influences through parental blood samples, and characterize infant immune cells. This comprehensive monitoring aims to reveal factors affecting antibody development and their role in AD risk.