Clinical Burden of ALGS for Pediatric Patients

William F. Balistreri, MD: Why are we worried about this disease, especially the liver issues? What’s the impact on these patients? Specifically, [let’s discuss] quality of life, short-term issues, long-term issues, survival with native liver, and so on. Let’s focus first on the quality-of-life issues.

Regino P. Gonzalez-Peralta, MD: As you might imagine, [receiving a] diagnosis of a multisystem chronic disease that involves many organs causes a certain amount of angst among the parents and other relatives and leads to quality-of-life issues. But anyone who has a congenital heart disease or renal disease could be affected. From a liver standpoint, you’re talking about a disease that can lead to pretty significant and bothersome symptoms. I’m sure that we’ll talk about this much more in detail later, but itching is one of the prominent problems that leads to severe quality-of-life issues. There’s also lack of appetite and lack of sleep. You focus on the patient when you talk about lack of sleep, but when the [child] isn’t sleeping, nobody else in the family is sleeping.

William F. Balistreri, MD: Nobody is sleeping.

Regino P. Gonzalez-Peralta, MD: The child doesn’t have to go to work the next day. The parents do. It brings on a whole set of issues. As you mentioned, there are some patients who remain relatively stable for a great part of their lives. But if you look at some long-term data, the transplant-free survival, native liver survival, is a problem, and a minority of patients [still have] their native livers by the time they’re [aged] 18. Transplant becomes an issue, and that’s a major quality-of-life influencer, particularly as you go through the process of evaluation and needing a transplant and having to wait, which I find to be the worst part of the whole ordeal of transplantation. I tell the parents that up front. It’s the wait, because you typically don’t know when it’s going to happen unless you have a living related donor, which is a separate ball of wax. Having Alagille is a big deal to the patients and their families.

William F. Balistreri, MD: Thank you, Reggie….We’ve emphasized that this is a common, probably underdiagnosed, disease with a multisystem effect affecting multiple organs. I’m sure it’s the same in your clinic as in ours. We have conjoined activity with our cardiologists, nephrologists, and…our neurologists at times. This isn’t a liver disease per se, but we’re going to be talking about the unmet needs in that area.

TRANSCRIPT EDITED FOR CLARITY