View clinical trials related to Connective Tissue Disease.
Filter by:This will be a 36-week, randomized, double-blind, parallel group study comparing the effects of tadalafil monotherapy, ambrisentan monotherapy and combination therapy with tadalafil and ambrisentan in patients with PAH-SSc. Standard outcome measures such as six-minute walk distance (6MWD), NYHA classification, and hemodynamic measurements will be assessed, as well as novel functional measures of RV-PV function including the transthoracic echocardiogram parameter tricuspid annular plane systolic ejection (TAPSE), contrast-enhanced cardiac MRI and heart rate variability assessed by Holter monitoring. This design (excluding a placebo-placebo arm) was selected for ethical concerns and to provide optimal efficiency and active therapy to all study subjects. It also allows for comparisons between the two monotherapies and with combination therapy.
The primary objectives of this exploratory study are to evaluate the effects of bosentan on hemodynamics (via cardiac catheterization) during exercise in patients with Pulmonary Arterial Hypertension (PAH) who have abnormal hemodynamics during exercise but normal hemodynamics at rest. The authors hypothesize that early treatment may change the course of disease progression by improving hemodynamics during exercise, thus delaying disease progression.
In Patients with rheumatic disease exercise training is a well established element of therapy. In contrast patients with severe pulmonary hypertension are advised to avoid physical exertion and must not perform exercise training. This study aims to evaluate the effectivity and safety of a low-dose training program in patients with pulmonary hypertension and rheumatic disease.
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.