Active clinical trials for "Syndrome"

Investigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to disorders related to epilepsy. These findings may help explain the broad spectrum of clinical characteristics and outcomes seen in people with epilepsy.

Ovarian insufficiency is common in Turner syndrome related to premature and rapid follicular apoptosis and spontaneous pregnancies are rare in this population. Ovarian cryopreservation has been used in an effort to preserve fertility in patients undergoing treatments which lead to premature and severe ovarian insufficiency. This study aims to assess the relevance of ovarian tissue cryopreservation in girls with Turner syndrome. Based on ovarian follicular density as primary outcome and karyotypic, clinical and hormonal markers as secondary outcomes, analysis of the study will allow to select the patients to whom the procedure would benefit the most.

Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination of selected patients with XP, XP/CS, CS, or TTD and follow their clinical course. We will obtain tissue (skin, blood, hair, buccal swabs) for laboratory examination of DNA repair and for genetic analysis. We hope to be able to correlate these laboratory abnormalities with the clinical features to better understand the mechanism of cancer prevention by DNA repair. Patients will be offered counseling and education for cancer control.

Polyostotic fibrous dysplasia (PFD) is a sporadic disorder which affects multiple sites in the skeleton. The bone at these sites is rapidly resorbed and replaced by abnormal fibrous tissue or mechanically abnormal bone. PFD may occur alone or as part of the McCune-Albright Syndrome (MAS), a syndrome originally defined by the triad of PFD, cafe-au-lait pigmentation of the skin, and precocious puberty. The bony lesions are frequently disfiguring, disabling and painful, and depending on the location of the lesion, can cause significant morbidity. Lesions in weight-bearing bones can lead to disabling fractures, while lesions in the skull can lead to compression of vital structures such as cranial nerves. The natural history of this disease is poorly described and there are no clearly defined systemic therapies for the bone disease. This is a data collection and specimen acquisition protocol. The purpose of the study is to define the natural history of the disease by following PFD/MAS subjects over time and by using in vitro experimentation with samples/tissue from subjects with the disease. Study Objectives Primary Objective Define the natural history of disease by gaining clinical and basic information about PFD/MAS by following subjects clinically and using in vitro experimentation with tissue from subjects with the disease. Secondary Objective Refer eligible subjects for enrollment into other appropriate research protocols, if any are currently active. Study Population The study population will include: Subjects with known or suspected Polyostotic Fibrous Dysplasia (PFD) or in combination with McCune-Albright Syndrome (MAS) Subjects who meet eligibility criteria will be accepted regardless of gender, race, or ethnicity Design This study is an observational/natural history study of PFD/MAS. Outcome Measures Primary Successfully enroll subjects with PFD or MAS for the collection, evaluation and analysis of data obtained from clinical visits. Obtain onsite and offsite research tissue (waste tissue) from patients with PFD/MAS that are enrolled onto this study or from individuals with PFD/MAS that are offsite and willing to donate waste tissue to NIH. Research tissue will be used with existing primary cell culture technology (ongoing in our laboratories) to: understand the basic bone biology of the pathologic cell (or cells) involved in the lesions of PFD/MAS determine the presence or absence of mutated cells at "uninvolved sites" to formulate better strategies of predicting the initiation of new lesions, the natural history of lesion progression and/or response to therapy understand osteogenic differentiation, in particular, the role of G(s)alpha in these lesions, which will be transferable to our understanding of bone biology in general understand the pathophysiology of FD and/or endocrine lesions develop better methods of identifying and expanding unaffected bone cells from patients with PFD in an effort to create better grafting material(s) Identify and predict clinical and biological behavior of fibrous dysplastic bone lesions based on: stability, rate of growth, rate of change, progression and regression, and development of new lesions differences between cranial, axial and appendicular lesions Define the natural history of the multiple endocrinopathies associated with MAS and the response to standard of care medications Define clinical and biological aspects of the disease not previously identified Generate future research studies related to PFD alone or in combination with MAS Secondary 1) Successfully enroll eligible subjects into active research protocols applicable to the FD/MAS population....

Approximately 600,000 women are treated for acute coronary syndrome (ACS) annually in the US. ACS includes heart attack and a milder form called unstable angina. Many of these women have angiograms of which 14-39% show no "significant" coronary artery disease (CAD, cholesterol plaque accumulation in arteries of the heart). The remaining majority of women with ACS have cholesterol plaque buildup which appears severe enough on angiography to limit blood flow to the heart. It is difficult to advise women with heart attacks and no major heart artery blockages on what to do if chest pain happens again. Additional studies are needed to find out why this sort of heart attack happens and to help doctors understand how to treat patients who have this problem in the best possible way. Some women with heart attacks who have no major blockage in heart arteries have cholesterol plaque in the arteries of the heart cannot be seen on angiography but can be seen using a newer technique called intravascular ultrasound (IVUS). IVUS involves creating pictures of the artery walls using ultrasound (sound waves) from within the artery itself. In some women without major heart artery blockage, heart attack is caused by low blood flow due to disease of smaller blood vessels which cannot be seen on angiography or IVUS. This problem can be found using magnetic resonance imaging (MRI), which can show blood flow to the heart. MRI may also be used to show where the heart has been damaged. The pattern of damage could suggest that a heart attack in a woman, who has no badly blocked heart arteries, happened for one (or more) of these reasons or another reason. The Study of Women with ACS and Non-obstructive CAD (SWAN) will use IVUS and MRI to help determine the reasons for heart attacks in women with no major blockages in heart arteries.

The goal of this study is to create a registry of information about women who have or are at risk for Lynch syndrome, in order to study gynecologic cancer risks. This is an investigational study. Up to 1000 patients will take part in this study. All patients will be enrolled at MD Anderson.

ASTOR's primary purpose is to enroll families and patients with a history of Alport syndrome in a central registry. The information we gather will be used as a basis for studies designed to test potential treatments for Alport syndrome. ASTOR also aims to provide patients, families and physicians with the most up-to-date information about Alport syndrome.

The aim of our study is to determine the relationship between disease severity and sleep quality in CTS patients and to compare the findings with healthy controls.

This is a prospective observational study of patients with suspected Acute Compartment Syndrome. The primary objective of this work is to determine whether intensity changes associated with the NIRST signal, reflecting oxy- and deoxy-hemaglobin and water concentrations or ICG fluorescence signal, reflecting tissue perfusion, can be associated with development of Acute Compartment Syndrome and identification of at-risk soft tissue and muscle.

We designed the project to validate CRISPR/Cas9-based gene editing combined with AAV-based delivery for correction of the most common MECP2 mutations both in vitro and in vivo.