Alvelestat (MPH996) for the Treatment of ALpha-1 ANTitrypsin Deficiency Save

Date Added
June 18th, 2019
PRO Number
Pro00088962
Researcher
Charlie Strange

List of Studies


Profiles_link
Keywords
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 study is designed to test the effectiveness of an drug (Alvelestat) on lung damage caused by Alpha-1 Antitrypsin Deficiency. This is blinded study and there is a 50% chance of receiving a placebo.

Institution
MUSC
Recruitment Contact
Whitney Billingsley
843-792-5526
billingw@musc.edu

A Placebo-Controlled, Multi-dose, Phase 2/3 Study to Determine the Safety, Tolerability and Effect on Liver Histologic Parameters in Response to ARO-AAT in Patients with Alpha-1 Antitrypsin Deficiency (AATD) Save

Date Added
June 11th, 2019
PRO Number
Pro00088982
Researcher
Charlie Strange

List of Studies


Profiles_link
Keywords
Drug Studies, Lung, Pulmonary, Rare Diseases
Summary

Alpha-1 Antitrypsin (AAT) is a naturally occurring protein involved in the protection of lungs from inflammation. A mutation in the AAT gene (a change in the body's genetic instructions on how to make AAT) causes it to be made incorrectly and very little of it gets into the bloodstream.This results
in the lung damage known as emphysema. ARO-AAT is an investigational drug, which means that it is not approved by the Food and Drug Administration. ARO-AAT works by interrupting a step in the production of AAT. In a patient with AATD, this would stop the mutated protein from being made. This study is being carried out to see how safe and well tolerated ARO-AAT is, and to see if low, medium and high doses of the study treatment will decrease Alpha-1 Antitrypsin in the blood and in the liver compared to a placebo, or dummy injection. The Study medication is given via injection on Day 1, 29 and 133 and then every 84 days. The study includes approximately 17 visits over a period of 24 month. Compensation will be provided for study site visits. .

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

HELIOS-A: A Phase 3 Global, Randomized, Open-Label Study to Evaluate the Efficacy and Safety of ALN-TTRSC02 in Patients with Hereditary Transthyretin Amyloidosis (hATTR Amyloidosis) Save

Date Added
May 14th, 2019
PRO Number
Pro00088330
Researcher
Katherine Ruzhansky

List of Studies

Silhouette
Keywords
Muscle, Nervous System, Rare Diseases
Summary

This is a global phase 3 open-label study designed to evaluate the efficacy and safety of ALN-TTRSC02 in adult patients (18 - 85 years of age) with hATTR amyloidosis. The estimated time on the study is approximately 3 years, including 42 days of Screening, an 18 month Treatment Period and an 18 month Treatment Extension Period.

Institution
MUSC
Recruitment Contact
John Keller
843-792-2209
kellej@musc.edu

A Multicenter, Randomized, Double-Blind, Placebo-Controlled Phase 3 Trial to Evaluate Efficacy and Safety of Lenabasum in Dermatomyositis Save

Date Added
February 12th, 2019
PRO Number
Pro00085567
Researcher
Katherine Ruzhansky

List of Studies

Silhouette
Keywords
Autoimmune disease, Inflammation, Rare Diseases
Summary

The primary objective of this study is to evaluate the efficacy of lenabasum compared to placebo in participants with dermatomyositis (DM), and to evaluate the safety and tolerability of lenabasum in participants with Dermatomyositis (DM).

Autoimmune diseases such as DN result from the immune system becoming over-active and attacking parts of the body. This over-active immune response also causes chronic inflammation. The growth of scar tissue in muscle, skin and internal organs with chronic inflammation from DM makes them not work as well as they should. Lenabasum may help the body stop the chronic inflammation and stop scarring fro getting worse without preventing the normal response of the immune system.

Lenabasum is an investigational drug that will be taken orally twice a day. It will take about one year to complete this research study. During this time, participants will make a total of 12 study visits.

Institution
MUSC
Recruitment Contact
Katrina Madden
843-792-9186
Maddenka@musc.edu

Post-treatment Long-term Follow-up Study of ADVM-043 Gene Therapy in Alpha-1 Antitrypsin Deficiency Save

Date Added
December 11th, 2018
PRO Number
Pro00083818
Researcher
Charlie Strange

List of Studies


Profiles_link
Keywords
Genetics, Lung, Pulmonary, Rare Diseases
Summary

This study is designed to follow individuals who participated in "Phase 1/2 Study of Intravenous or Intrapleural 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" for 5 years after receiving treatment.

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

Collaborative, National Quality and Efficacy Registry for Tracking Disease Progression in Systemic Sclerosis (Scleroderma) Patients Save

Date Added
November 20th, 2018
PRO Number
Pro00080285
Researcher
Faye Hant

List of Studies


Profiles_link
Keywords
Autoimmune disease, Non-interventional, Rare Diseases, Scleroderma, Skin
Summary

The goal of this study is to develop an early systemic sclerosis (SSc) registry in the United States (US). A registry is a group of patients that are observed over time. This is a non-interventional study, meaning that they are no study specific medications to take or procedures to undergo. The specific aims include ongoing assessment of the natural history of early SSc patients by capturing and analyzing clinical data, patient reported outcomes, and laboratory data. This is a multi-center study with sites spread across the U.S. This study is funded by the Scleroderma Research Foundation.

Institution
MUSC
Recruitment Contact
Trevor Faith
843-792-8997
faitht@musc.edu

Transcranial magnetic stimulation for modulation of postural control in progressive supranuclear palsy Save

Date Added
April 17th, 2018
PRO Number
Pro00076691
Researcher
Marian Dale

List of Studies

Keywords
Central Nervous System, Geriatrics, Movement Disorders, Nervous System, Rare Diseases, Rehabilitation Studies
Summary

This research studies the effects of brain stimulation (transcranial magnetic stimulation, or "TMS") on balance in progressive supranuclear palsy (PSP). The purpose of this research is to look for improvements in balance when subjects are on a tilting platform after stimulating the brain with a magnetic wand held over the scalp over an area at the back of the brain called the cerebellum. Participants will receive both active and inactive stimulation during the course of the study. There is no surgery involved. There are also optional portions of the study that include functional magnetic resonance imaging (fMRIs) and speaking samples.

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

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

List of Studies


Profiles_link
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

Phase 1/2 Study of Intravenous or Intrapleural 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

List of Studies


Profiles_link
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

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

Date Added
September 15th, 2016
PRO Number
Pro00059134
Researcher
Charlie Strange

List of Studies


Profiles_link
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

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