A Global, Open-Label, Multicenter, Phase 1/2 Study of the Safety and Dose Escalation of BAX 888, an Adeno-Associated Virus Serotype 8 (AAV8) Vector Expressing B-Domain Deleted Factor VIII (BDD-FVIII) in Severe Hemophilia A Subjects Administered a Single Intravenous Infusion Save

Date Added
August 8th, 2017
PRO Number
Pro00068449
Researcher
John Lazarchick
Keywords
Blood Disorders, Drug Studies, Rare Diseases
Summary

This is a first-in-humans gene therapy study for subjects diagnosed with severe hemophilia A. A one time infusion of the gene therapy product (BAX888) will be given with the hope of eliminating or reducing the need for prophylactic and/or on-demand use of FVIII concentrate therapy. Up to 10 subjects will be enrolled study-wide with up to two subjects enrolled at MUSC. This study will require weekly visits to the study clinic after initial infusion for the first 15 weeks followed by monthly visits for the first year. Compensation will be provided.

Institution
MUSC
Recruitment Contact
Lauren Card
843-792-5935
cardl@musc.edu

Validation of computer-based saccade and pupillary light reflex measures as biomarkers for progressive supranuclear palsy Save

Date Added
July 18th, 2017
PRO Number
Pro00065862
Researcher
Marian Dale
Keywords
Aging, Brain, Movement Disorders, Nervous System, Parkinsons, Rare Diseases, Vision/ Eye
Summary

This study examines eye movements and the pupil's response to light in progressive supranuclear palsy (PSP), comparing to Parkinson's disease and control subjects without neurological disease. Computerized measures of eye movements and pupil changes will be used. Subjects will also receive an eye exam to rule out other eye diseases. The goal of this study is to use subtle changes in eye movements and the pupil's response to light for earlier diagnosis of PSP.

Institution
MUSC
Recruitment Contact
Shonna Jenkins
843-792-9115
jenkisho@musc.edu

Sample Collection for Performance Evaluation for INNOVANCE® Free PS Ag* Save

Date Added
May 25th, 2017
PRO Number
Pro00064923
Researcher
Gary Headden
Keywords
Blood Disorders, Circulation, Non-interventional, Rare Diseases
Summary

Protein S is a protein that is very important to the blood clotting process. When people don't have enough Protein S they run the risk of developing blood clots. This study is collecting samples from people who may have abnormal Protein S levels in order to develop a new way of checking the Protein S levels. This test is looking specifically for FREE Protein S. The free protein S is Protein S that is not bound or "tied up" and is therefore more ready to do its job in the clotting process.

Institution
MUSC
Recruitment Contact
Robert Houck
843-792-3576
houckr@musc.edu

Phase I/2 Study of Intrapleural or Intravenous Administration of a Serotype rh.10 Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human Alpha-1 antitrypsin cDNA to Individuals with Alpha-1 antitrypsin Deficiency Save

Date Added
October 25th, 2016
PRO Number
Pro00059083
Researcher
Charlie Strange
Keywords
Genetics, Lung, Pulmonary, Rare Diseases
Summary

Alpha-1 antitrypsin (Alpha-1, AAT) deficiency is an inherited disease which results from a defect in the alpha-1 gene. Severe AAT deficiency causes emphysema predominant chronic obstructive pulmonary disease (COPD). This is a first in man study of gene therapy to insert a normal Alpha-1 gene into the cells of the body and attempt to make a normal Alpha-1 antitrypsin protein. The purpose of this Phase I/II study is to test the safety of a new gene therapy called AAVrh.10h ?1AT. This gene therapy uses a viral vector called Adeno-Associated Virus to insert the normal Alpha-1 gene into the cells of the body when the vector is placed into the bloodstream or pleural space.

Institution
MUSC
Recruitment Contact
Danielle Woodford
843-792-6280
woodfordd@musc.edu

Prospective Follow-up Study for Patients who Completed Study ALX0681-C301 (HERCULES) to Evaluate Long-term Safety and Efficacy of Caplacizumab (Post-HERCULES) Save

Date Added
October 11th, 2016
PRO Number
Pro00059594
Researcher
Charles Greenberg
Keywords
Blood Disorders, Drug Studies, Rare Diseases
Summary

Subjects who completed Study ALX0681-C301 (HERCULES) will be given the option to participate in this follow-up study which requires a clinic visit every 6 months for 3 years. Should the subject present with a recurrence of TTP during this time they will be treated with caplacizumab in addition to receiving standard of care treatment.

Institution
MUSC
Recruitment Contact
Lauren Card
843-792-5935
cardl@musc.edu

Multicenter International Durability and Safety of Sirolimus in Lymphangioleiomyomatosis (LAM)Trial (MIDAS) Save

Date Added
September 15th, 2016
PRO Number
Pro00059134
Researcher
Charlie Strange
Keywords
Lung, Pulmonary, Rare Diseases
Summary

Lymphangioleiomyomatosis (LAM) is a rare lung disease that is caused by genetic mutations. It results in the uncontrolled growth and proliferation of an atypical smooth muscle cells in the lung. These cells invade airways, blood vessels, and lymph vessels, and limit the flow of air, blood, and lymph, respectively. The source of the cells is unknown, but available evidence indicates they arise from an extrapulmonary source. Their aberrant behavior is due to mutations in tuberous sclerosis genes that results in mTOR activation. Respiratory failure, lung collapse (pneumothorax), and pleural effusions (chylothorax) are hallmarks of the disease. This study will evaluate the safety and durability of the mTOR inhibitors sirolimus and everolimus, which are FDA approved medications for prevention of rejection of transplanted organs, in stabilizing or improving lung function in people in LAM.

Institution
MUSC
Recruitment Contact
Suchit Kumbhare
843-792-1219
kumbhare@musc.edu

A Phase 2, Randomized, Double-Blind, Placebo-Controlled Trial of IMO-8400 in Patients with Dermatomyositis. Save

Date Added
April 26th, 2016
PRO Number
Pro00054009
Researcher
Katherine Ruzhansky
Keywords
Drug Studies, Inflammation, Muscle, Rare Diseases, Skin
Summary

Subjects are being asked to volunteer for this research study because they have been diagnosed with Dermatomyositis (DM). This study will test the safety and effectiveness of the investigational new drug, IMO-8400. Subjects will receive a subcutaneous injection of the study drug or placebo once a week for up to 24 weeks during the study. Subjects will complete a total of 27 visits over the course of 32 weeks. After the baseline visit, subjects will have the option of having a visiting nurse (who has been trained in the protocol and approved by the Sponsor) conduct the intervening weekly study visits 2-25 outside of the clinic (e.g., at your home or workplace) rather than coming in to clinic for injections.

Institution
MUSC
Recruitment Contact
Christine Hudson
843-792-3790
hudsoncm@musc.edu

A Randomized, Parallel-Group, Double-Blind, Placebo-Controlled, Multiple-Dose, Proof of-Concept Study to Evaluate the Efficacy and Safety of Hyaluronic Acid Inhalation Solution for the Treatment of Hereditary Emphysema in Patients with Alpha 1-Antitrypsin Deficiency for 28 days Save

Date Added
March 8th, 2016
PRO Number
Pro00051339
Researcher
Charlie Strange
Keywords
Breathing, Lung, Pulmonary, Rare Diseases, Shortness of Breath
Summary

Individuals with a confirmed diagnosis of alpha-1 antitrypsin (AAT) deficiency and emphysema will be invited to participate in this study. This study will determine the safety and effectiveness of Inhaled Hyaluronic Acid solution as a possible treatment of emphysema in AATD patients. A participant in this study will be asked to inhale the study medication or a placebo delivered by a nebulizer twice a day for 28 days. Neither the study investigators nor the participant will know if they are receiving active drug or placebo. Safety and side effects of all therapies will be monitored.

Institution
MUSC
Recruitment Contact
M. Gwen Blanton
843-276-4523
blantonm@musc.edu

A Phase III Double Blind, Randomized, Parallel Group, Multicenter Placebo-Controlled Trial to Study the Efficacy and Safety of Caplacizumab in Patients with Acquired Thrombotic Thrombocytopenic Purpura Save

Date Added
January 26th, 2016
PRO Number
Pro00050801
Researcher
Charles Greenberg
Keywords
Blood Disorders, Drug Studies, Rare Diseases
Summary

The purpose of this study is to evaluate the safety and efficacy of an investigational drug in adults with a clinical diagnosis of acquired Thrombotic Thrombocytopenic Purpura (TTP). This study aims to determine if patients receiving caplacizumab respond better than patients receiving placebo measured by time to normalized platelet count. The study drug will be given in addition to the standard of care treatment. The study of this investigational drug represents a novel approach to the treatment of this rare condition and may provide significant benefit in terms of the quality of life to patients with TTP. Participation in the study will involve a minimum of 8 visits to the study clinic over a period of two to six months based on treatment needs.

Institution
MUSC
Recruitment Contact
Lauren Card
843-792-5935
cardl@musc.edu

A Phase 3/4 Study to Evaluate the Safety, Immunogenicity, and Effects on the Alpha1-Proteinase Inhibitor (A1PI) Levels in Epithelial Lining Fluid Following GLASSIA Therapy in A1PI-Deficient Subjects Save

Date Added
January 12th, 2016
PRO Number
Pro00046425
Researcher
Charlie Strange
Keywords
Breathing, Lung, Pulmonary, Rare Diseases, Shortness of Breath
Summary

Individuals with alpha-1 antitrypsin (AAT) deficiency (AAT blood level lower than 11 micro-moles) and emphysema will be invited to participate in this study. This study will determine the impact of IV Alpha-1 proteinase inhibitor (Alpha-1 MP) on the progression of emphysema in patients with AAT deficiency. A participant in this study would receive either GLASSIA dosed at 60mg/kg with a high particle load or GLASSIA dosed at 60mg/kg with a low particle load. Neither the study investigators nor the participants will know which batch of drug is actual given to the participant. Participants will have the IV therapies given to them weekly for 25 weeks, with some infusions given at MUSC and some at home. Safety and side effects of all therapies will be monitored.

Institution
MUSC
Recruitment Contact
M. Gwen Blanton
843-792-8438
blantonm@musc.edu

Change_preferences

-- OR --

Create_login