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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. 16-220-1 (Dr. Jayesh Kamath, PI): A Phase I Study of the Biomarker Response and Pharmacokinetic Profile of Thyrotropin-Releasing Hormone (TRH) Administered as a Sublingual Tablet
This present study will compare effects (both good and bad) of two doses of sublingual Thyrotropin releasing hormone (TRH) tablets, to the standard i.v. dose of TRH and, for comparison, to a tablet of TRH that is meant to be swallowed rather than dissolved under the tongue. The two primary measures that will be evaluated in healthy volunteers are: 1. The classic response to TRH, which is measured as the increase in the hormone thyrotropin (TSH) from baseline levels to the peak level achieved following administration of TRH. 2. The pharmacokinetic (the way the body absorbs, distributes and gets rid of a drug) profile of TRH in blood plasma after sublingual tablet administration. Additional goals of the present study include assessment of selected behavioral measures after TRH administration by the sublingual, i.v. and regular oral tablet routes, determination of changes in selected measures of immune system function, and evaluation of physiological (pulse, blood pressure and EKG) measures and reports of any side effects observed following administration of the different TRH formulations. Objectives: 1. To compare the biomarker response (i.e., the TSH response) after administration of TRH by intravenous injection (0.5 mg), after two doses of a sublingual TRH tablet formulation (0.5 mg and 5 mg), and after administration of a standard oral tablet formulation of TRH (5 mg). 2. To determine the pharmacokinetic profile of TRH administered by intravenous, sublingual tablet and oral tablet formulations, as assessed by determination of plasma TRH concentration at specified times over a 180 minute period of evaluation. 3. To evaluate the tolerability of TRH administered by intravenous, sublingual and standard oral tablet formulations as determined by assessment of vital signs, laboratory measures and subject reports of adverse effects. 4. To collect samples to carry out assessments of effects of TRH administered by intravenous, sublingual tablet and oral tablet formulations on selected indices of immune system function and behavioral responses for which future funding is being sought. Study Hypothesis: The central hypothesis of the present study is that a unique sublingual tablet formulation of TRH, developed by Dr. Bogner at the UConn School of Pharmacy and demonstrated to show promising enhancement of lipophilicity based on in vitro laboratory assessments, will provide suitable bioavailability when administered to normal human subjects. For appropriately selected compounds, sublingual administration can avoid problems related to poor absorption in the GI tract, metabolism by enzymes at the level of the intestinal membrane wall, and the hepatic first-pass effect (Goswami et al., 2008). Compounds with suitable lipophilicity can permeate the sublingual epithelial cell layer and reach the underlying connective tissue layer, which is highly vascularized. Via this route, appropriately selected compounds can gain efficient access to the general circulation and demonstrate good bioavailability in plasma, thus supporting therapeutic application after sublingual tablet administration. Previous in vitro studies in Dr. Bogner's laboratory documented a greater than 100-fold increase in lipophilicity for the novel TRH formulation, thus predicting the likelihood of suitable bioavailability associated with sublingual tablet administration in human subjects. The proposed Phase I study will document that administration of the optimized sublingual TRH tablet formulation produces the classic biomarker response to TRH and will also delineate the pharmacokinetic profile of TRH in plasma following sublingual tablet administration.
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.