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Filter by:Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder (autosomal recessive) caused by an abnormality in the production of cholesterol. The disorder can occur in both a "mild" or "severe" form. SLOS is associated with multiple birth defects and mental retardation. Some of the birth defects include; abnormal facial features, poor muscle tone, poor growth, shortened life span, and abnormalities of the heart, lungs, brain, gastrointestinal tract, limbs, genitalia, and kidneys. There is no known cure for SLOS but recently patients have been treated with increased amounts of cholesterol in their diet. The cholesterol in a persons diet is unable to correct the abnormalities in the patient's organs, but researchers hope it will improve growth failure and mental retardation. This study was developed to answer questions about the causes and complications of SLOS, as well as the effectiveness of cholesterol treatment. The study will enroll patients diagnosed with SLOS, and their mothers. The objectives of the study will be to address the following questions: 1. <TAB> What is the prognosis / natural history of the demyelination in the nervous system of patients with SLOS? 2. <TAB> Do patients with SLOS have other problems concerning the function of their endocrine systems? 3. <TAB>What are the genetic make-ups of patients with SLOS? 4. <TAB>Can further studies of cholesterol metabolism and genetic testing, using SLOS fibroblasts, increase the understanding of SLOS?<TAB>...
Invasive aspergillosis is a fungal disease which is increasing in incidence with the increase in immunocompromised persons in our population. Persons with prolonged neutropenia secondary to cytotoxic chemotherapies are at the highest risk for acute aspergillosis. Patients undergoing bone marrow transplantation, receiving prolonged corticosteroid or other immunosuppressive therapies, and persons with HIV infection and AIDS are also at risk. Even with antifungal therapy, aspergillosis in its acute invasive forms has a high mortality. In bone marrow transplantation patients and in those whose infection involves the brain, this mortality is greater than 90%. Amphotericin B in its conventional form, is the current standard treatment for this disease. Response to therapy with amphotericin B usually ranges between 20-60% in most studies. The higher response rates are usually seen in those patients who can tolerate this agent for at least 14 days. Because of its nephrotoxicity and other adverse effects, alternatives to conventional amphotericin B have been sought. These currently include liposomal forms of amphotericin B and itraconazole. Although these forms show a decrease in adverse effects, the efficacy of these drugs has not been shown to be equivalent to conventional amphotericin B. Voriconazole is an investigational antifungal drug currently being brought to phase III trials in the US. This azole has been shown active against Aspergillus spp. in vitro, and in animal models and early human trials to be effective against aspergillosis. It has been shown to be well-tolerated and is available in an intravenous and oral formulation. This study will evaluate the efficacy, safety, and toleration of voriconazole compared to conventional therapy with amphotericin B as primary treatment of acute invasive aspergillosis in immunocompromised patients. Patients will be randomized to open-labelled therapy with voriconazole or amphotericin B in a one-to-one ratio.
The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach. The first step towards this goal is to define the smallest genomic candidate region for AGS at 20p12 and to begin to identify genes within this region which are, by definition, candidate genes for the disease. In a collaborative effort with clinician-investigators studying the Alagille syndrome, metaphase chromosomes and genomic DNA from affected individuals will be studied for subchromosomal deletions and for mutations in the candidate genes. Characterization of genes involved in Alagille syndrome could provide important insight into the pathophysiology of the disease, the development of normal liver and treatment of this disease. Recently, we and others found that mutations in Jagged1, a Notch1 receptor are responsible for Alagille Syndrome.
The purposes of this study are to identify the genes responsible for inherited connective tissue disorders and learn about the range of medical problems they cause. It will investigate whether specific gene changes cause specific medical problems and will establish diagnostic criteria (signs and symptoms) for the individual syndromes. Children and adults with a known or suspected inherited connective tissue disorder (Marfan, Ehlers-Danlos or Stickler syndrome, or other closely related disorders) and their family members may be eligible for this study. Patients enrolled in the study will have a medical history, physical examination and blood tests, as well as other procedures that may include: - Echocardiogram (ultrasound of the heart) - X-rays and other imaging studies, such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans - Lung function studies - Urine tests - Skin biopsy (removal of a small piece of tissue, under local anesthetic, for microscopic examination) - Examination by various specialists (e.g., in ophthalmology, gastroenterology, rehabilitation medicine) as needed - Questionnaires regarding chronic pain and fatigue, quality of life, and the impact of the connective tissue disorder on the patient and family. (Patients who wish to enroll but cannot travel to NIH may have a more limited participation, including review of medical records, telephone interview regarding personal and family history, and collection of a specimen (blood, skin biopsy, or other) for genetic testing. Patients will be notified of genetic testing results that show a change responsible for their connective tissue disorder. If they wish, the information will also be sent to their local health care provider, along with recommendations for additional tests or treatment options. No treatment is offered as part of this study. Participating family members who do not themselves have a connective tissue disorder will provide a small blood sample for gene testing and be interviewed by telephone about their personal and family health history. Those whose blood test results show a gene change associated with a connective tissue disorder will be invited to NIH for a discussion of the findings or referred to a genetic center in their area.
This study will evaluate the safety and effectiveness of thalidomide in treating Sjogren's syndrome. In this autoimmune disease, the immune system attacks the body's tear glands and salivary glands, causing dry mouth and dry eyes. Thalidomide has shown promise in treating other autoimmune disorders, such as rheumatoid arthritis and systemic lupus erythematosus. Women with Sjogren's syndrome who have dry eyes and dry mouth may be eligible for this study. Women of childbearing potential will not be considered for participation because of severe birth defects associated with thalidomide. Also, since Sjogren's syndrome affects many fewer men than women, men are excluded from this pilot study because they would be too few in number to assess as a separate group. Candidates will be screened with a medical history, physical examination, blood and urine tests, electrocardiogram, chest X-ray and pregnancy test. Tests will also be done to measure the conduction of electrical impulses along the nerves and to evaluate dryness of the eyes. Participants will be randomly assigned to take either thalidomide or a placebo (look-alike pill with no active ingredient). The thalidomide dosage will be increased gradually from a starting dose of 50 Mg. up to 300 Mg., depending on side effects. Women of childbearing age who have had a tubal ligation or longstanding infertility will have a pregnancy test every 2 or 4 weeks. Participants will come to the clinic at the first study visit and again at weeks 4, 8 and 12 for some or all of the following procedures: - Patient assessment of dry mouth (rated on a scale from "worst ever" to "best ever" - Patient assessment of dry eyes (rated on a scale from "worst ever" to "best ever" - Patient health questionnaire and disease assessment rating - Saliva collection - Rose-Bengal or other dye tests for dryness - examination of the eyes under a bright light following administration of drops containing a dye - Schirmer's I test for dryness - placement of a thin rectangular strip of filter paper in the eye following administration of anesthetic drops - Blood tests to measure blood cell counts and levels of various immune substances in the blood, and to evaluate liver and kidney function - Urine tests to evaluate kidney function - Nerve conduction tests - measurement of the speed with which nerves conduct electrical impulses. Two nerves in the arm and one nerve in the leg will be tested. Participants will also be contacted by telephone every week to report any side effects.
This study will evaluate the effectiveness of the male hormone dehydroepiandrosterone (DHEA) in treating Sjogren's syndrome. This autoimmune disorder, in which the immune system attacks the salivary glands and tear glands, affects primarily women. Patients' eyes and mouth become drier over time, and can lead to problems such as serious tooth decay and eye irritations. Sex hormones seem to influence the immune response and may help decrease disease severity. DHEA has benefited some patients with two other autoimmune diseases, rheumatoid arthritis and systemic lupus erythematosus. Women 18 to 75 years of age with Sjogren's syndrome may be eligible for this 7-month study. At the initial visit, candidates will have a physical examination, routine blood and urine tests and eye and dental examinations, including a test to measure saliva production for screening purposes and to establish baseline values for participants. Those enrolled in the study will be randomly assigned to take either DHEA or placebo (look-alike tablet with no active ingredient) once a day for 6 months and will be monitored with follow-up visits at months 1, 3, 6 and 7. Physical examination, blood tests and urinalysis will be repeated at months 1, 3, 6 and 7; saliva will be collected at months 3, 6 and 7; and eyes will be examined at 3 and 6 months. Because hormone changes may have both physical and emotional effects, patients will be asked questions about their mood, symptoms and side effects of treatment. It is not known if Sjogren's syndrome is associated with osteoporosis (bone thinning), but since this condition occurs in other autoimmune disorders, patient's bone density will be measured at the first visit, and blood drawn at 3 and 6 months will be tested for various substances associated with changes in bone density. A 24-hour urine collection at the first visit and later urine tests will also be tested for substances associated with bone thinning.
Stiff-man Syndrome (SMS) is a chronic, progressive disorder of the nervous system. It is associated with painful muscle spasms and rigidity involving muscles of the limbs, trunk, and neck. The cause of the disease is unknown, but researchers believe it may be a result of an autoimmune process. Patients with Stiff-man Syndrome may produce antibodies that attack enzymes required for the normal function of the nervous system. Steroids, plasmapheresis, and intravenous immunoglobulin (IVIg) have been given to relieve some of the symptoms of Stiff-man Syndrome. However, none of these therapies have proven to be significantly effective. This study will attempt to determine the effectiveness of intravenous immunoglobulin (IVIg) for the treatment of Stiff-mann Syndrome. Patients participating in this study will be divided into two groups. Group one will receive 2 injections of IVIg once a month for three months. Group two will receive 2 injections of placebo "inactive sterile water" once a month for three months. Following the three months of treatment, group one will begin taking the placebo and group two will begin taking IVIg for an additional 3 months. The drug will be considered effective if patients receiving it experience a significant improvement in muscle function, mobility, and stiffness.
This study will test the effectiveness of topical thalidomide in healing mouth sores in HIV infected patients. Oral (PO) thalidomide heals these sores at a dose of 200 mg per day. However, PO thalidomide can cause drowsiness, skin rashes, allergic reactions, increased viral load, and even nerve damage that may not be reversible. This study will evaluate the efficacy of a topical formulation of thalidomide (placed directly on the surface of the sore) for the healing of these sores. Persons with HIV infection of acquired immunodeficiency of at least 18 years of age with one or more chronic, painful intraoral lesions may be eligible for this study. Subjects must be referred by a primary care physician who is managing their care, and must have HIV/AIDS status confirmed. Patients' HIV treatment regimen will not be altered and those receiving highly active therapy will not be excluded. Patients will be excluded if they are concurrently being treated for mucosal lesions (including topical or systemic steroids, viscous lidocaine, topical or systemic anti-fungals, or mouthwashes), or concurrent thalidomide therapy; receving chemotherapy or radiation therapy for neoplasms; using concurrent acute therapy for opportunistic infections; concurrent use of sedatives (such as CNS depressants or alcohol use); history of allergy to thalidomide; pre-existing peripheral neuropathy of grade II or higher; pregnant or lactating females or those not practicing contraception according to FDA guidelines for thalidomide.
Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). The disease can cause poor functioning of the lungs, intestine, kidneys, or heart. The major complication of the disease is pulmonary fibrosis and typically causes death in patients ages 40 - 50 years old. The disorder is common in Puerto Rico, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS. The purpose of this study is to perform research into the medical complications of HPS and begin to understand what causes these complications. Researchers will clinically evaluate patients with HPS of all ethnic backgrounds. They will obtain cells, blood components (plasma), and urine for future studies. Genetic tests (mutation analysis) to detect HPS-causing genes will also be conducted.<TAB>...
Patients with Cushing disease have hormone producing tumors in their pituitary gland. Often these tumors are so small they cannot be detected by magnetic resonance imaging (MRI). The inferior petrosal sinuses are small veins that drain the blood from the pituitary gland. By taking a small sample of blood from these sinuses, doctors can differentiate a small tumor in the pituitary gland from other tumors in the body producing the hormone. Patients with Cushing disease have high levels of the hormone ACTH in the petrosal sinuses. Patients with other causes of Cushing syndrome do not have increased levels of ACTH in the petrosal sinuses. The procedure to collect blood from the petrosal sinus is called Inferior Petrosal Sinus Sampling (IPSS). The technique is very sensitive and can tell the difference between a pituitary tumor and other causes of Cushing syndrome nearly 100% of the time. However, IPSS is very difficult to perform and is only available in a few hospitals. Therefore, researchers are looking for another possible way to diagnose Cushing syndrome that would be less technically difficult and more readily available to patients. ACTH is produced in the pituitary gland as a response to the production of Corticotropin-Releasing Hormone (CRH) in the brain (hypothalamus). This study will compare ACTH levels in the internal jugular veins before and after CRH stimulation with those obtained by conventional IPSS from patients with Cushing's syndrome. Obtaining blood from the jugular veins is a simple, practically risk free procedure that could be done easily in a community hospital on an out patient basis. Researchers believe that CRH stimulation will increase ACTH production from tumors of the pituitary gland (corticotroph adenomas) so that the diagnostic information from jugular venous sampling would be equivalent to that of IPSS. This proposal to develop jugular venous sampling (JVS) with CRH stimulation as a test for the differential diagnosis of Cushing Syndrome would potentially contribute greatly to the medical care of patients with Cushing syndrome, as a less costly, safer and more widely available alternative to IPSS.<TAB>