Prospective non-interventional, phase IV, multicenter, study to assess the effectiveness, safety, and tolerability of elafibranor 80mg/day in patients with PBC receiving treatment in real-world settings

Date Added
June 3rd, 2025
PRO Number
Pro00136802
Researcher
Don Rockey

List of Studies


Keywords
Liver, Non-interventional, Rare Diseases
Summary

This is an international, multicenter, study that will not prescribe elafibranor. It is designed primarily to collect data and assess real-world effectiveness of treatment with elafibranor 80mg/day on adult patients with PBC, and to describe the safety of this treatment and its impact on their quality of life, over a period of 24 months.

Institution
MUSC
Recruitment Contact
Joshua Inman
(843) 876-4303
inmanj@musc.edu

CONQUEST: Platform Clinical Study for Conquering Scleroderma: A Multicenter, Double-Blind, Randomized, Placebo-Controlled, Phase 2b Platform Clinical Study to Evaluate the Safety and Efficacy of Investigational Products in Participants with Interstitial Lung Disease Secondary to Systemic Sclerosis

Date Added
May 13th, 2025
PRO Number
Pro00135916
Researcher
Faye Hant

List of Studies


Keywords
Autoimmune disease, Drug Studies, Rare Diseases, Scleroderma
Summary

The CONQUEST study is a clinical trial for people with systemic sclerosis associated interstitial lung disease (SSc-ILD). The goal of the research study is to help potentially uncover new SSc-ILD treatment options. The study is sponsored by The Scleroderma Research Foundation and is currently working with 2 pharmaceutical companies to provide the investigational medications (Amlitelimab, a subcutaneous injection/shot and BI 1015550/Nerandomilast, a tablet taken by mouth). Study participation involves a main study which is collecting general information about your scleroderma health and well being and at the same time, a treatment study that is specific to the investigational drug that you are assigned.

An investigational or study drug is not approved by The US Food and Drug Administration. It can only be used in a research study like this one. In this study the ID will be compared with a placebo (dummy drug). The placebo will be a look like the ID but does not have any study drug in it. The comparison with the placebo helps to determine whether the effects seen in your body is because of the ID or not. This is a randomized study, meaning that you will be assigned by chance (like flipping a coin) to receive either the study drug or placebo. The study is double-blinded study, meaning you and your study doctor will not know if you are taking a study drug or placebo but you will know what treatment study you are assigned (Treatment Study A with Amlitelimab or Treatment Study B with BI 1015550/Nerandomilast).

Participation in the overall study will be approximately 60 weeks (4 weeks
Screening, 52 weeks Treatment Period, and 4 weeks Follow-up with visits to the MUSC main campus. Study visits are much like the visits that you have with our Rheumatologist as part of your routine care such as: blood draw, urine collection, physician-led assessments of your disease (for example physical exam and skin thickness testing), tests to assess your pulmonary function and health (Pulmonary Function Test (PFT) and High Resolution Computed Tomography (HRCT)), electrocardiogram, as well as being asked to complete surveys/questionnaires.

Compensation is available with participation.

Institution
MUSC
Recruitment Contact
Miranda Irvin
843-792-8613
sclerodermaresearch@musc.edu

A Phase 1, Randomized, Double-Blind, Placebo-Controlled, Single Oral Dose Study Evaluating the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BMN 349 in PiZZ and PiMZ/MASH Adult Participants

Date Added
December 10th, 2024
PRO Number
Pro00141286
Researcher
Charlie Strange

List of Studies


Keywords
Drug Studies, Genetics, Liver, Rare Diseases
Summary

Alpha-1 antitrypsin (AAT) deficiency is a condition in which the body does not make enough of AAT, a protein that protects the lungs and liver from damage. This condition is inherited, meaning you get the faulty gene from one or both of your parents.

The purpose of this study is to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of oral administration of BMN 349 in adult participants with the PiZZ genotype (also defined as having a severe deficiency or AAT ≤ 60mg/dL) or PiMZ genotype with metabolic dysfunction-associated steatohepatitis (MASH). Participants will receive an oral single dose of BMN 349 (250 mg), a medication designed to assist Z-alpha-1 antitrypsin to get out of the liver cell. The study drug BMN 349 has not been approved by the Federal Drug Administration (FDA).

This is a phase 1 study in which participants will get a single pill dose of drug or placebo to measure the amount of alpha-1 that gets out of the liver cells and into the bloodstream. Study details include:
• Study duration: up to 78 days
• Treatment duration: 1 day (single dose).
• Observations: The study will collect data on medical history, physical examination, vital signs, electrocardiogram readings, clinical laboratory parameters, pulmonary function tests, and drug distribution.
• Visit frequency: The Screening Visit, dosing, and post dosing evaluations will be conducted at MUSC on 3 consecutive days. Visits at days 8 and 36 days will occur at study site. Other procedures/assessments may be performed at the study site or at home by a healthcare professional and/or by telemedicine.

Institution
MUSC
Recruitment Contact
Kristin Neff
843-792-1219
neffk@musc.edu

A Phase 3, Prospective, Open-label, Uncontrolled, Multicenter Study on Efficacy and Safety of Prophylaxis with rVWF in Children Diagnosed With Severe von Willebrand disease

Date Added
October 22nd, 2024
PRO Number
Pro00137135
Researcher
Shayla Bergmann

List of Studies


Keywords
Adolescents, Blood Disorders, Drug Studies, Pediatrics, Rare Diseases
Summary

The is a Phase 3 study for children, ages 0-17 years old, with severe von Willebrand disease (VWD). In this study, the study drug will be used prophylactically for the treatment of bleeding events. Prophylactic treatment means the study drug will be used to prevent or stop a bleed before it happens.
This study is going to look at how safe the study drug is and how well the study drug (recombinant von Willebrand factor (rVWF, vonicog alfa)), works to prevent and control bleeding.

Institution
MUSC
Recruitment Contact
Linda Wozniak
843-876-8651
wozniakl@musc.edu

Emotional Impact on Mothers of Children with Mitochondrial Diseases: Guilt, Worry, and Uncertainty About the Future

Date Added
October 15th, 2024
PRO Number
Pro00138828
Researcher
Allison Davis

List of Studies

Keywords
Genetics, Non-interventional, Rare Diseases
Summary

The purpose of this research is to assess the emotional impact on mothers of children with mitochondrial disease (MD). This study plans to compare survey responses between mothers of children with MD caused by mitochondrial DNA (mtDNA) variants, which are exclusively maternally inherited, and nuclear DNA variants (nDNA), which can be inherited from either parent or new in the individual (de novo). This survey also plans to assess the impact on future reproductive decisions due to the fact that reliable preimplantation genetic testing (PGT) for mtDNA variants is lacking and the transmission of mtDNA variants from mother to child is hard to predict.

Institution
MUSC
Recruitment Contact
Allison Davis
8035872172
davialli@musc.edu

RELIANCE: A phase 1, randomized, double-blinded, placebo-controlled, trial evaluating the long-term safety and tolerability of Imatinib for the treatment of Lymphangioleiomyomatosis (LAMP-2 Trial)

Date Added
July 30th, 2024
PRO Number
Pro00136539
Researcher
Charlie Strange

List of Studies


Keywords
Kidney, Lung, Pulmonary, Rare Diseases, Women's Health
Summary

The purpose of this medical research study is to evaluate the safety and effectiveness of a new medication called imatinib mesylate in the treatment of Lymphangioleiomyomatosis (LAM). LAM is a rare disease in which abnormal cells (called LAM cells) grow out of control. Over time, LAM cells destroy healthy lung tissue and cause respiratory disease or failure.

Many patients with LAM are currently treated with a medication called sirolimus (rapamycin). Sirolimus slows the growth of LAM cells.

Imatinib mesylate (hereafter called imatinib) is approved by the Food and Drug Administration (FDA) for the treatment of some cancers that share common pathways with LAM cells. Laboratory studies suggest that imatinib could completely block the growth of LAM cells through initiation of targeted cell death.

An important purpose of this research is to determine the safety of imatinib in people with LAM. This study will also evaluate the short-term effectiveness of imatinib. Participants will be randomized to receiving imatinib (study medication) or placebo (no treatment) for the 180 day duration of participation. The study is being conducted at the Medical University of South Carolina and at Columbia University in New York (CUMC). Each site will enroll 10 participants.

Institution
MUSC
Recruitment Contact
Mary Hayden
(843) 792-8438
blantonm@musc.edu

A Randomized, Double-blind, Placebo-controlled Phase 4 Clinical Trial to Evaluate the Long-term Safety and Efficacy of Avacopan in Subjects With Antineutrophil Cytoplasmic Antibody (ANCA)-associated Vasculitis

Date Added
April 10th, 2024
PRO Number
Pro00136129
Researcher
Kathleen Maksimowicz-McKinnon

List of Studies

Keywords
Autoimmune disease, Drug Studies, Inflammation, Rare Diseases, Stage IV, Vasculitis
Summary

The purpose of this study is to learn more about long-term safety (good or bad effects) of avacopan and its efficacy (how well it is working) in treatment of antineutrophil cytoplasmic autoantibody (ANCA)-associated vasculitis.

Avacopan is currently approved as an adjunctive (another treatment used along with primary treatment) treatment in adult people with severe active ANCA-associated vasculitis in the US and is also approved in the EU, Canada, Japan, and other countries.

In this study, avacopan will be compared with a placebo (a drug that looks likes the study medication but does not contain any medication). This is a randomized study, meaning that you will be assigned by chance (like flipping a coin) into a treatment group. You will have an equal chance of being placed in either of the 3 following groups: treatment with avacopan for 5 years in group A, or treatment with avacopan for 1 year followed by placebo for 4 years in group B, or treatment with placebo for 5 years in group C. The study is also a double-blinded study, meaning you and your study doctor will not know what you are receiving, the avacopan or placebo.

The study is sponsored by Amgen, Inc. Participation in the study will require 27 visits to the MUSC main campus over approximately 63 months, and visits will include the following procedures: blood draw, urine collection, physician-led assessments of your disease (for example physical exam and medical history review), and health questionnaires. You will also be provided with a paper diary to record any missed doses/overdoses of the study drug.

Compensation is available for participation.

Institution
MUSC
Recruitment Contact
Kathleen Maksimowicz-McKinnon
843-792-0066
maksimow@musc.edu

A Phase III Randomised, Parallel-Group, Double-Blind, Placebo-Controlled, Two-Arm Study to Evaluate the Efficacy and Safety of Elafibranor 80 mg on Long-Term Clinical Outcomes in Adult Participants with Primary Biliary Cholangitis (PBC)

Date Added
February 26th, 2024
PRO Number
Pro00130418
Researcher
Don Rockey

List of Studies


Keywords
Digestive System, Drug Studies, Hepatology, Liver, Rare Diseases
Summary

The main goal of this study is to evaluate how well taking oral elafibranor 80 mg daily works, compared to a placebo, in reducing or preventing the occurrence of death, liver transplant, worsening of liver disease, and liver disease-related complications in adults with PBC.

Institution
MUSC
Recruitment Contact
Joshua Inman
(843) 876-4303
inmanj@musc.edu

A Phase 2, Double-blind, Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of NS-229 in the Treatment of Eosinophilic Granulomatosis With Polyangiitis

Date Added
February 23rd, 2024
PRO Number
Pro00133321
Researcher
Kathleen Maksimowicz-McKinnon

List of Studies

Keywords
Autoimmune disease, Drug Studies, Inflammation, Rare Diseases, Vasculitis
Summary

The purpose of this study is to test whether a drug called NS-229 (the study drug) is a potential treatment for patients with Eosinophilic Granulomatosis With Polyangiitis (EGPA).

NS-229 is an investigational drug that is provided in an oral pill form. An investigational drug is not approved by The US Food and Drug Administration. It can only be used in a research study like this one. In this study, NS-229 will be compared with a placebo (dummy drug), having no active drug in it. This is a randomized study, meaning that you will be assigned by chance (like flipping a coin) to receive either the study drug or placebo. The study is also double-blinded study, meaning you and your study doctor will not know what you are receiving, the NS-229 or placebo.

The study is sponsored by a NS Pharma, Inc. Participation in the study will require 12 visits to the MUSC main campus over approximately 8 months. Visits are much like the your standard of care and include the following procedures: blood draw, urine collection, physician-led assessments of your disease (for example physical exam and medical history review), tests to assess your lung function and health (Pulmonary Function Test (PFT) and spirometry, health questionnaires. You will also be asked to complete a daily diary regarding your medication use and vasculitis symptoms.

Compensation is available for participation

Institution
MUSC
Recruitment Contact
Kathleen Maksimowicz-McKinnon
843-792-0066
maksimow@musc.edu

Alpha-1 Foundation Therapeutic Development Network

Date Added
October 23rd, 2023
PRO Number
Pro00132722
Researcher
Charlie Strange

List of Studies


Keywords
Liver, Lung, Non-interventional, Pulmonary, Rare Diseases
Summary

The Alpha-1 Foundation Therapeutic Development Network (TDN) aims to make it easier to design and carry out clinical trials that enhance the treatment of patients with Alpha-1 Antitrypsin Deficiency (AATD). To achieve this, the TDN will establish a network of clinical trial centers that have enough patients to gather a comprehensive database of clinical and genetic information. This data will be crucial in determining the criteria for including or excluding participants in the trials and in recruiting suitable subjects.

Specifically, this study will enroll participants by in person or remote consent who will allow collection of medical records to be entered into an Alpha-1 TDN database. Participants will then be invited to future clinical trials.

Institution
MUSC
Recruitment Contact
Kristin Neff
843-792-1219
neffk@musc.edu



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