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Clinical Trials: Rare Diseases
IRB No. 07-131-1 (Dr. Jonathan Covault, PI): Behavioral Gene Bank
The purpose of this registry/repository is to collect diagnostic data (psychiatric and medical diagnoses) and tissue specimens from subjects and/or family members in order to build a Behavioral Gene Bank (BGB). The registry/repository aims to study; subjects with known or suspected genetic or medical syndromes; families with high concentrations of psychiatric illness; and subjects with dysmorphic features or other clinical characteristics suggestive of a genetic or chromosomal disorder. Relatives of individuals with these features and healthy controls will also participate. Subjects will be invited to participate in further behavioral studies in the future.
IRB No. 15-115-1 (Dr. Santhanan Lakshminarayanan, PI): A Randomized, Double-Blind, Placebo-Controlled Phase II Study to Investigate the Efficacy and Safety of Riociguat in Patients with Diffuse Cutaneous Systemic Sclerosis (dcSSc)
The purpose of this study is to investigate the effectiveness and safety of riociguat (BAY 63-2521) in patients with diffuse cutaneous systemic sclerosis. It is approved by the FDA for the treatment of 2 forms of hypertension in lung blood vessels, chronic thromboembolic pulmonary hypertension (CTEPH) and pulmonary arterial hypertension (PAH). Riociguat works by stimulating an enzyme in cells, which increases the production of another molecule. The resulting effects are a decrease in tissue fibrosis and relaxation of smooth muscle cells (cells found in particular internal organs and blood vessels). It is proposed that riociguat may offer protection against worsening diffuse cutaneous systemic sclerosis.
IRB No. 13-132S-2 (Dr. Kevin Manning, PI): Enroll-HD: A Prospective Registry Study in a Global Huntington's Disease Cohort
Enroll HD is a worldwide observational study for people with HD and their family members. We are collecting data in an effort to improve our understanding and treatment of HD.
IRB No. 16-210-6 (Dr. Biree Andemariam, PI): 3D Microscopic Imaging to Differentiate Healthy vs Diseased Red Blood Cells
This study is a prospective, clinical/translational research study using peripheral blood from consenting SCD patients and healthy control volunteers. From our earlier experiments with red blood cells using the 3D microscope, we have found that the mechanics of cell membrane fluctuations are very sensitive to the state of health of the cell. Parameters extracted from the dynamic imaging of the cell (amplitude of cell membrane fluctuation, frequency of cell membrane fluctuation, volume fluctuation and dynamic light scattering) can be used to discriminate healthy and diseased cells. The present study is aimed at collecting dynamic information of healthy versus diseased cells to quantify mechanical properties and estimate the state of health of the cells as well as the effectiveness of the developed 3D microscope in automatic identification of diseases. We hypothesize that the 3D microscope will be able to discriminate between healthy and sickle cell disease red blood cells, a tool that will have practical use in diagnosis and treatment of the disease. We will enroll both healthy and sickle cell disease adults who are 18 years of age and older who have not had a transfusion in the past 3 months.
IRB No. 16-212-1 (Dr. Santhanan Lakshminarayanan, PI): A Phase II, randomized, double-blind, placebo controlled, parallel-group, multicenter trial to evaluate the efficacy and safety of abituzumab in subjects with systemic sclerosis-associated interstitial lung disease (SSc-ILD)
Abituzumab is an investigational drug that is being evaluated for the treatment of patients with systemic sclerosis (SSc)-associated interstitial lung disease (SSc-ILD). SSc is an autoimmune disease that can affect many organs, including the stomach, intestines, heart, and lungs. In general, SSc causes hardening of the skin and organs. SSc-ILD involves damage to lung tissue and can cause difficulty breathing and worsening lung function.