Observing Clinical Research at the CHP Lysosomal Storage Disorder Clinic

As a second-year genetic counseling student completing a pediatric rotation at UPMC Children’s Hospital of Pittsburgh, you get to have many unique experiences. You see kids (and their families) with a variety of genetic conditions and attend different clinics within the hospital, such as the Phenylketonuria (PKU) clinic and Lysosomal Storage Disorder (LSD) clinic. Typically, genetic counseling students see 1 or 2 patients in the LSD clinic, however, I was able to see 3 and was fortunate to interact with a research participant as a part of my LSD clinic experience.

https://doi.org/10.3390/ijms21082704

The Children’s Hospital of Pittsburgh, like a number of hospitals across the nation, participates in clinical trials for conditions known as lysosomal storage disorders. This category of conditions is made up of disorders such as Gaucher disease, Fabry disease, and all forms of Mucopolysaccharidosis (MPS), among many more. What these conditions share in common is the fact that a specific cellular organelle, the lysosome, isn’t able to break down a certain substance because an enzyme is missing or doesn’t work, and thus the lysosome becomes full of these substances. The specific condition someone with a lysosomal storage disorder has is related to what enzyme is missing or not working, and what specific genetic change is causing that enzyme to not work. This is how the conditions are differentiated. The wide range of symptoms people with lysosomal storage disorders have are due to the accumulation of these substances that can not be broken down.

 

A handful of lysosomal storage disorders are treated with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). One of the current issues with LSDs that are neurodegenerative (these are conditions that affect the central nervous system), is the difficulty of an intravenous therapy not being able to cross the blood-brain barrier. This means that any accumulation in the central nervous system will continue over time and not respond to treatment. However, there is on-going research into different medications and therapies (such as gene-replacement therapy) that can help treat these patients, and hopefully cross the blood-brain barrier. Some of this research has made its way into clinical trials. I was fortunate enough to be able to participate in a case where the patient was also a participant in one of these clinical trials.

 

Prior to meeting with this patient and their family, I reviewed the patient’s medical record to get a deeper understanding as to why they are seen by Medical Genetics. I also reviewed the details of the clinical trial to get an understanding of the research, and what the researchers hope to accomplish. It was absolutely fascinating learning about how this treatment might help people in the future.

 

I met with the patient and the family with Nadene Henderson, a genetic counselor, and the research coordinator for the study at Children’s. I was able to get an understanding of how often this particular family comes to the hospital for the study, and the family informed us that they feel like this clinical trial is significantly helping their child. I was able to observe the medical team take blood and urine samples for the lab prior to the patient being sent to an operating room for a lumbar puncture and infusion of the investigational drug. The purpose of infusing the drug intrathecally (IT), or through the spinal canal, is to allow the medication to bypass the blood-brain barrier and hopefully help treat the substrate accumulation in the central nervous system. It was fascinating watching the surgeon inject this medication and complete the procedure.

 

Seeing a clinical trial patient is not an experience students typically have while rotating at Children’s LSD clinic. That said, if you’re interested in clinical research, I highly recommend speaking with a researcher. It was interesting learning about how Nadene’s work as a clinical genetic counselor transitioned into a research genetic counselor position, and how her clinical experiences impact her research practices and vice versa. I think all genetic counseling students should have the opportunity to interact with research genetic counselors.

 

I really appreciated getting to participate in this experience. It was a pleasure to meet this family, and it was a fantastic opportunity to see research applied first-hand. I  have a deeper appreciation for the hard work that researchers are doing to identify treatments for complex conditions! 

 

Michael Gosky, Class of 2021

---