2018 Michael, Marcia, and Christa Parseghian Scientific Conference for Niemann-Pick Type C Research

Westin La Paloma Resort & Spa – Tucson, Arizona

On June 2-5 of this year, over 140 NPC researchers, clinicians, and family members gathered in Tucson, AZ for our annual Conference.  The level of participation and collaboration was incredible during our time together.

The conference kicked off with a keynote address by Dr. Thijn Brummelkamp, who spoke on genetic studies on the function of NPC1 in pathogen entry and cholesterol trafficking.  This was followed by additional talks about NPC1 and lysosomal biology, including a presentation by Dr.  Roberto Zoncu who presented on the roles of cholesterol in mTORC1 signaling and a discussion by Kevin Vaughan indicating the role StARD9 may participate in cholesterol transport.

The second day started with a morning session on cholesterol trafficking and NPC1 proteostasis.  Dr. Suzanne Pfeffer provided an update on her APMRF funded research on how NPC1 mediates cholesterol transport from lysosomes, and Dr. Arun Radhakrishnan discussed intracellular trafficking routes of cholesterol.  This was followed by Dr. Fred Maxfield presenting on his collaborative group’s efforts to develop proteostatic regulators of NPC1 protein by modulating heat shock proteins.  The session concluded with an interactive discussion with Dr. Bill Balch in the area of gathering more genomic data to help better understand NPC disease. The afternoon sessions focused on translational therapeutics.  Dr. Paulina Ordonez presented on her work that focuses on mitochondria dysfunction as an avenue for drug discovery in NPC1 disease and Dr. Rich Taylor discussed the role of GEX1A and its therapeutic potential for NPC.

The final day of the conference began with additional presentations on translational therapeutics including a presentation by Dr. Yiannis Ioannou on targeting the mitochondrial-ER-lysosome axis for treating lysosomal storage diseases.  This was followed by presentations from Dr. Cristin Davidson and Dr. Charles Vite on their work applying gene therapy as a treatment for NPC disease.

Later in the day, we received updates in two key areas: newborn screening and clinical trials.  Drs. Melissa Wasserstein and Don Bailey gave presentations on what needs to be done to develop a newborn screen, and Allison Rosen followed by presenting on the extraordinary community effort that is ongoing to develop a NPC-specific screen.  The attendees also received updates on the current clinical trial and expanded access programs for VTS-270 by Dr. Denny Porter, Dr. Elizabeth Bery-Kravis, and Steve Romano, Chief Scientific Officer at Mallinckrodt.  Dr. Christine I Dali then followed with an update from Orphazyme on their clinical trial with Arimoclomol.  The afternoon then concluded with a panel discussion on the future of drug development for NPC disease.

What is also critical for the success of the conference is allowing sufficient time for follow up discussions between the researchers.  There were two evening poster sessions, followed by receptions and dinners, which allowed for many of the researchers to start and continue a dialogue with each other to foster these collaborations.  A special thank you to Dr. Dan Ory for chairing this year’s conference.  And another thank you for the volunteers that helped make sure the conference was a success including Allen Utterback, who was the first person awake and the last person to go to bed each day to ensure that that all attendees had an optimal experience.