Clinical Research Trial?
In a clinical trial, participants receive specific interventions according to the research plan or protocol created by the investigators. These interventions may be medical products, such as drugs or devices; procedures; or changes to participants’ behavior, such as diet. When a new product or approach is being studied, it is not usually known whether it will be helpful, harmful, or no different than available alternatives (including no intervention). The investigators try to determine the safety and effectiveness of the intervention by measuring certain outcomes in the participants. Learn more about clinical trials by going to clinicaltrials.gov
Natural History Studies
A natural history study is aimed at acquiring information and data that will provide a better understanding of rare conditions. Participants will be asked to allow study personnel to obtain information from medical records and an interview, and to collect blood, urine, and tissue samples when clinically indicated, in order to understand the causes of these diseases and to improve the diagnosis and treatment of children with these diseases. All of the information obtained in these studies is confidential and no names or identifying information are used in the study.
Importance of Clinical Research
One of PFIC Networks responsibilities is to notify the patient community of clinical research opportunities. Raising awareness of increasing participation in clinical research is essential; research is necessary to accelerate the development of new drugs and treatments for patients. As a patient advocacy organization our role does not include endorsement of specific studies. We strongly recommend that you discuss participating in clinical research with your physician specialist or healthcare provider. To learn more about participation in clinical trials see “NIH Clinical Trials and You”.
For the Global Community, you can see the World Health Organization’s information on Clinical Research Trials here: WHO Clinical Trials
Clinical Trials: PFIC Related Diseases
PFIC Network works with Research & Industry Partners who are developing or are interested in making advancements in PFIC and PFIC related diseases. An important part of the work that we do is ensuring that the patient community stays up to date with communications from our partners, to help understand relevant information as it relates to treatment access. Listed below are the current clinical trials and access updates for PFIC related diseases.
The PFIC Network does not endorse or prescribe any treatment either available or in development. If you are interested in learning more about if these treatment options are the right choice for you or your child, please discuss with your doctor.
Cincinnati Children’s Undiagnosed and Rare Liver Disease Center (CURL)
An integrated medical and research center, founded with a focus on progressive familial intrahepatic cholestasis (PFIC) and other rare or genetic liver diseases, with the goal to address unmet needs in the rare liver disease community.
CURL offers improved therapies for PFIC and other rare liver disease and the expertise to find innovative solutions for complications of the treatment and disease process. CURL offers consultation and second opinions on clinical plans of care for both adults and pediatric patients and is dedicated to help each patient achieve their unique care goals.
The LOGIC study is a natural history study that includes patients with PFIC and three other rare liver diseases.
A longitudinal study of genetic causes of intrahepatic cholestasis. Children and adults ages 6 months through 25 years diagnosed with Alagille Syndrome, Alpha-1 Antitrypsin deficiency, Progressive Familial Intrahepatic Cholestasis, or bile acid synthesis defects, both before and after liver transplantation. See the Clinical Research Study here.
The NAPPED study or NAtural Course and Prognosis of PFIC and Effect of Biliary Diversion.
An observational study to define the natural course of the disease.
The study is aimed to define the natural course of the disease as well as define the change in the natural course of disease in response to biliary diversion surgery and or liver transplantation. To learn more, go to the clinicaltrials.gov webpage here.
Phase 3 Clinical Trial
A Phase 3 study called MARCH (MARalixibat in CHolestasis) has been initiated to evaluate the safety and efficacy of Maralixibat as a potential novel treatment for children with PFIC.
Maralixibat is a novel, minimally-absorbed investigational medicine being evaluated in rare cholestatic liver diseases for pediatric populations, including PFIC. Maralixibat works by blocking an important bile acid transport protein on the surface of the small bowel, leading to lower levels of systemic bile acids. To learn more, go to the clinicaltrials.gov webpage here.
Odevixibat has now been approved by the FDA and is available in the United States, UK, and Germany.
Odevixibat is a highly potent and selective inhibitor of the ileal bile acid transporter (IBAT), sometimes also referred to as the apical sodium dependent bile acid transporter (ASBT) that has minimal systemic exposure and acts locally in the gut. To learn more, go to the clinicaltrials.gov webpage here.
Phase 2 Clinical Trial
The RISE study is a clinical research study
for infants with Progressive Familial Intrahepatic Cholestasis (PFIC) or Alagille Syndrome (ALGS)
This study is designed to assess whether the investigational drug maralixibat, is safe and well tolerated in children <12 months of age with Alagille Syndrome [ALGS] or Progressive Familial Intrahepatic Cholestasis [PFIC]. To learn more, go to the clinicaltrials.gov webpage here.
Open Enrollment Study Opportunities
PFIC Network supports study opportunities of all types. Researchers develop studys for specific groups of patients to learn more about specific areas of the illness in order to develop meaningful solutions.The more we can learn about our patient population, the more resources, education, and treatment possibilities can be created.