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Background: Ollier disease (OD) and Maffucci syndrome (MS) are rare disorders that increase the risk of cancers in cartilage tissue. These tumors can lead to severe skeletal deformities beginning in childhood. People with OD or MS are also at an increased risk of blood vessel disorders and specific cancers. Researchers want to learn more about what causes these disorders. Objective: To understand the genetic causes of OD and MS. Eligibility: People aged 2 years and older who have OD or MS with cartilage tumors or blood vessel disorders. Design: Participants will stay at the NIH clinic for 5 days. They will undergo these procedures: A physical exam with blood tests. DXA (dual-energy X-ray absorptiometry) scan. The DXA scan measures the density of bones. Participants will lie on a table while a machine uses low-level X-rays to scan their body. MRI (magnetic resonance imaging) scan. An MRI uses strong magnets to take pictures of the tissues inside the body. Participants will lie on a table that slides into a large tube. A contrast dye may be injected through a needle inserted into a vein in the arm. X-rays. Some participants may have full-body X-rays instead of an MRI. X-rays take pictures of bones and other internal tissues and organs, such as the heart, lungs, and airways. PET (positron emission tomography) and CT (computed tomography) scans. Adult participants will have 2 other scans. The PET scan will include a radioactive injection into a vein. They will also have a full-body CT scan.
The study will use blood (serum and plasma) and tissue obtained from participants undergoing prescribed surgical resection of vascular anomalies of interest proposed in this study. The study will also use blood (serum and plasma) and tissue collected and stored in a tissue bank maintained by the Department of Hematology/Oncology.
This prospective observational post-market clinical study will collect data in the United States to primarily support the re-launch of the re-designed Beacon Tip Sizing Catheter and Slip-Catheter Beacon Tip Catheter \& Shuttle Select Slip-Catheter (Visceral and Cerbral) for a Conformité Européenne (CE) Mark application in the European Union (EU). Additionally, the data from this study may be used to support regulatory approval in other countries/regions. The purpose of this clinical study is to evaluate the safety and performance of these catheters in accordance with the Intended Use through the end of index procedure, and through 30 days post procedure, (as applicable as data is available) to ensure an acceptable benefit:risk ratio.
The Comprehensive HHT Outcomes Registry of the United States (CHORUS) is an observational registry of patients diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT). The purpose of this study is to better understand HHT, the symptoms and complications it causes, and the impact the disease has on people's lives. The investigators will collect long-term information about the participant, allowing us to understand how the disease changes over time, and what factors can influence those changes. Ultimately, this should help improve treatments for the disease. Another important goal of the study is to provide a way to contact people to participate in future clinical trials and other research. The registry will be a centralized resource for recruitment for clinical trials. People in the registry will not be obligated to join any of these additional studies, but if interested, can agree to be contacted if they may be eligible for a study. Participants will: * Be asked to provide permission to collect information from their medical records, including things like demographic information, diagnosis information, family history, test results, treatment information, symptoms, complications, lifestyle and other relevant medical information. * Be asked study-related questions by phone or at a clinic visit. * Be asked study-related questions every year after enrollment for up to 10 years or until the study ends. A member of the study team will communicate with participants by phone or at clinic visits to collect information regarding any changes to their health over the previous year/s including new test results, treatment information, symptoms, and complications from HHT.
The purpose of this study is to develop a standardized assessment for patients treated for venous malformations (VM). Venous malformations result from the abnormal development of veins which may result in pain, swelling, bleeding, functional impairment, disfigurement, and psychological distress. The impact of VM on patient quality of life varies based on the location and size of the malformation. A patient reported outcome (PRO) is a patient's own account of patient's health condition. PRO measures are valued to clinicians, as many treatment effects are known only to the patient. No studies to date have analyzed the validity of existing PRO measures for VM patients. Current assessment does not include all symptoms or take in to account the relevance of VM location. Past studies show a discrepancy between treatment outcomes reported by patients and physicians. Therefore, there is a need to develop VM-specific PROs to better understand the effectiveness and benefits of treatment for VM.
SELVA: A Multicenter, Phase 3 Baseline-Controlled Study Evaluating the Safety and Efficacy of QTORIN 3.9% Rapamycin Anhydrous Gel in the Treatment of Microcystic Lymphatic Malformations The main purpose of this study is to assess the change in microcystic lymphatic malformations IGA after 24 weeks of treatment with QTORIN 3.9% Rapamycin Anhydrous Gel in approximately 40 participants with microcystic lymphatic malformations. Efficacy will be evaluated at 24 weeks and patients have the option of continuing on treatment for \>24 weeks.
Intracranial aneurysm rupture is a leading cause of hemorrhagic strokes which carry high mortality and disability rates as well as high healthcare costs. Unruptured intracranial aneurysms (UIA) are common in the general population, occurring in 1-2% of individuals. Previous studies have shown that UIA growth and rupture are strongly associated with each other, with growing aneurysms 9-12 times more likely to rupture, and nearly all aneurysms growing prior to rupture. Thanks to advanced medical imaging, UIA are now more and more often detected incidentally. However not all aneurysms qualify for preventive surgical or interventional procedures according to current International Study of Unruptured Intracranial Aneurysms (ISUIA) guidelines, and some must therefore be monitored for growth. Current guidelines are based heavily on size, an inconsistent predictor of future growth. To improve management strategies for individual patients and more comprehensively assess aneurysm risk, the investigators propose to identify risk factors related to growth. Aneurysm etiology is multifactorial, with both genetic and environmental contributions to aneurysm formation, growth, and rupture. Exploring new risk factors based on aneurysm natural history and understanding the mechanisms underlying aneurysm rupture have been extensive research areas. As previous studies have shown that quantitative imaging biomarkers (QIB) can provide a more accurate assessment of the characteristics of aneurysms, the investigators propose a combined study which identifies QIB associated with aneurysm growth to identify factors related to growth.
Lymphatic anomalies are a rare subset of vascular anomalies that are poorly understood. the understanding of the natural history, long-term outcomes, risk factors for morbidity and mortality, and the relative benefit of medical therapies and procedures is limited.The goal of this project is to better understand these diseases and improve the care of theses rare patients. To do this, the investigators are conducting an observational study of patients with lymphatic anomalies, including an annual follow-up questionnaire to gather prospective data on mortality, morbidity, treatments, and functionality as well as quality of life.
The purpose of the International Lymphatic Disease and Lymphedema Patient Registry and Biorepository is to collect health information in order to study the disease classification, natural history, and impact of Lymphatic Disease, Lymphedema and Related Disorders and its treatments and medical outcomes.