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Patient Education

Alagille syndrome (ALGS) is a rare genetic disease affecting many organs and systems in the body.¹ It is estimated that the disease has an incidence of 1 in 30,000 to 1 in 45,000 individuals in the general population.² However, many ALGS cases may be undiagnosed or misdiagnosed due to a lack of awareness among patients and their families as well as health care professionals.

Patient education about Alagille syndrome is important to ensure that families can recognize the signs and symptoms of the disease early and seek medical attention promptly. This can ensure that a diagnosis is reached in a timely manner and treatment can start without delay. Although there is currently no cure for ALGS, there are treatments available that can alleviate the symptoms of the disease and help manage complications.

Read more about Alagille syndrome treatments.

Moreover, the symptoms of ALGS can vary greatly from one patient to the other. Patient education can ensure that the parents and caregivers of ALGS patients are aware of every aspect of the disease and can recognize its symptoms and seek care for the patient. Being familiar with the disease, its symptoms, and how symptoms may develop over time can also reassure patients and families and promote a positive outlook.

Finally, ALGS patient education is important because it can help raise awareness about the condition in the general population and reduce stigma. It can also ensure an adequate support system is in place for the patient and their family.

Alagille Syndrome Alliance Efforts

The Alagille Syndrome Alliance is a not-for-profit organization that aims to support families affected by ALGS and raise awareness about the disease.³ It also encourages research efforts on behalf of the ALGS community.

To help increase awareness, the alliance has a large toolkit, including social media posts, downloadable graphics, and printable resources containing information about the disease and its causes as well as symptoms. There are also digital resources that patients and health care professionals can use to send to stakeholders.

The alliance has also developed a new diagnosis guide with the help of ALGS clinicians, scientists, researchers, and families to help patients and their families with their first medical appointments.⁴ It contains information about how to prepare for the appointment and things to think about during and after the appointment. It also contains information about ALGS basics and local community resources. Finally, it has a section on research and current clinical trials and how to access them.

International Alagille Syndrome Awareness Day

The alliance also organizes the International ALGS Syndrome Awareness Day, which takes place on January 24 each year, the birthday of Dr. Daniel Alagille, the French physician who first described the disease in 1969.⁵ The aim of the day is to increase awareness about the disease through family stories, partner messages, and expert talks.

Two pharmaceutical companies developing new experimental treatments for ALGS, Mirum, the developer of maralixibat, and Albireo, the developer of odevixibat, recognize and support International ALGS Awareness Day.^6,7

Mirum also launched a disease awareness campaign on January 24, 2021, to broaden awareness and education about ALGS and allow health care providers to identify symptoms and diagnose patients more easily. The ultimate goal of the campaign is to improve the time to diagnosis and treatment of ALGS.

CoRDS Patient Registry

Coordination of Rare Diseases at Sanford (CoRDS) is a program sponsored by Sanford Health, a health system based in Sioux Falls, South Dakota, to provide researchers with a centralized, international patient registry for all rare diseases, including ALGS.⁸

The program aims to allow patients and researchers to connect easily and help advance treatments and cures for rare diseases. Those with a diagnosis of ALGS, those who are undiagnosed, and those who are unaffected carriers are all eligible to register for the program. The primary outcome of the study is to accelerate research into rare disorders including ALGS by connecting rare disease patients who are interested in research with researchers who study their disease.

The program collects information about the contact details, demographics, and health status of participants and shares this information with researchers. The data are linked to a unique coded identifier so the identity of the participant is not known to the researchers. Participants may also choose to have their information shared with patient advocacy groups. Participants are contacted once a year to confirm whether they want to continue participating in the program and make any updates to their situation.

References

Jesina D. Alagille syndrome: an overview. Neonatal Netw. 2017;1;36(6):343-347. doi:10.1891/0730-0832.36.6.343
Alagille syndrome. National Organization for Rare Disorders. Accessed May 20, 2021.
Alagille Syndrome Alliance. Accessed June 13, 2021.
Alagille syndrome: a new diagnosis guide. Alagille Syndrome Alliance. Accessed June 13, 2021.
Alagille syndrome awareness. Alagille Syndrome Alliance. Accessed June 13, 2021.
Mirum Pharmaceuticals honors Alagille Syndrome Awareness Day with launch of disease awareness campaign. News release. Mirum Pharmaceuticals; January 24, 2021.
Albireo recognizes International Alagille Syndrome Awareness Day 2021. News release. Albireo; January 22, 2021.
Rare disease patient registry & natural history study – coordination of rare diseases at Sanford (CoRDS). ClinicalTrials.gov. February 15, 2013. Updated December 10, 2020. Accessed May 20, 2021.

Reviewed by Kyle Habet, MD, on 7/1/2021.

Ozge Ozkaya, MSc, PhD

Özge’s background is in research; she holds a MSc. in Molecular Genetics from the University of Leicester and a PhD. in Developmental Biology from the University of London. Özge worked as a bench scientist for six years in the field of neuroscience before embarking on a career in science communication. She worked as the research communication officer at MDUK, a UK-based charity that supports people living with muscle-wasting conditions, and then a research columnist and the managing editor of resource pages at BioNews Services before joining Rare Disease Advisor.

Alagille Syndrome (ALGS)