December 19, 2025

#372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy

47 minutes

What do you do when your family is faced with a rare disease that has no cure, and every day truly matters?

In this episode of DNA Today, we focus on Hunter syndrome (MPS II), a rare, progressive genetic condition that primarily affects children and leads to serious physical, neurological, and developmental challenges over time.

Our guest is Kristin McKay, Executive Director of Project Alive, a nonprofit organization dedicated to accelerating treatments, expanding access to care, and supporting families impacted by Hunter syndrome. Kristin’s advocacy is deeply personal: she lost her brother, Zachary, to Hunter syndrome, and today her son, Charlie, is living with the condition.

Kristin joins us to share what Hunter syndrome is, how it progresses, and how her family’s journey shaped her leadership and advocacy. We discuss the urgent need for effective treatments, the promise and uncertainty surrounding emerging gene therapies, and what families experience when regulatory delays impact a disease where time is not a luxury.

This conversation highlights both the science behind Hunter syndrome and the human cost of delay, along with the resilience of a community that continues to push forward fueled by hope.

On This Episode, We Discuss:

Understanding Hunter Syndrome (MPS II)

What it means to have a metabolic disorder and how MPS II affects the body

Common symptoms and how the disease progresses over time

The variability in presentation and severity among individuals

A Family’s Journey Through Hunter Syndrome

Kristin’s experiences growing up with a brother affected by Hunter syndrome

Losing Zachary and later receiving the diagnosis for her son, Charlie

How these experiences shaped her perspective as both a parent and an advocate

Project Alive: Mission, Growth & Impact

The origins and mission of Project Alive

Key initiatives supporting research, families, and advocacy

How the organization balances funding science, supporting families, and influencing policy

Gene Therapy & the RGX-121 Delay

Why RGX-121 is considered a promising potential one-time gene therapy for Hunter syndrome

What the FDA’s Prescription Drug User Fee Act (PDUFA) date extension means for patients and families

The emotional and practical impact of regulatory delays in ultra-rare diseases

What changes could help expedite review processes for rare disease therapies

Advocacy, Equity & Access

How Project Alive amplifies the voices of a small but urgent patient community

Strategies for engaging policymakers and industry partners

Lessons the broader rare disease field can learn from this advocacy model

Looking Ahead & How You Can Help

What listeners can do to support Project Alive

Opportunities for advocacy, awareness-building, and community engagement

Relevant Resources:

Project Alive

MedlinePlus’ Mucopolysaccharidosis type II (Hunter syndrome) Page

The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD)

Royalty pens $275M financing deal for Denali drug awaiting delayed FDA decision

FDA pushes back PDUFA date for Regenxbio's Hunter syndrome gene therapy

JCR Pharmaceuticals Announces the Achievement of Enrollment in the JR-141 Global Phase III Clinical Trial

A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)

FDA News Release: FDA Advances Rare Disease Drug Development with New Evidence Principles

Morimoto H, Morioka H, Imakiire A, Yamamoto R, Hirato T, Sonoda H, Minami K. Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice. Mol Ther Methods Clin Dev. 2022 May 10;25:534-544. doi: 10.1016/j.omtm.2022.05.002. PMID: 35662814; PMCID: PMC9142692.

The Precision Medicine Initiative launched by President Obama

It Happened To Me Podcast Episode #16 ALS with Brook Eby (Kira referred to this being a DNA Today episode, she misremembered doing an episode drop on DNA Today, but maybe that means we should in the future)

National Organization For Rare Disorders (NORD)

EveryLife Foundation For Rare Diseases

STAT News: 1 in 10 Americans have a rare disease, but few have treatments

Cystic Fibrosis Foundation’s Venture Philanthropy Model

Kim, Esther and Lo, Andrew W., Venture Philanthropy: A Case Study of the Cystic Fibrosis Foundation (April 23, 2019). Available at SSRN: https://ssrn.com/abstract=3376673 or http://dx.doi.org/10.2139/ssrn.3376673

Denali Therapeutics Drug Pipelines (including MPSII)

Researchers estimated that 42% of Americans over age 55 will eventually develop dementia.

NIH research (lead by Dr. Francis Collins) leads to first FDA-approved treatment for progeria

Relevant DNA Today Podcast Episode:

#147 CF Series: Bijal Trivedi on "Breath From Salt"

#149 CF Series: Gunnar Esiason on Patient Advocacy

#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1

#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2

#306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19

#327 How Patient Advocacy is Changing Rare Disease Research

#332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight

#356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases

#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine

#371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.

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DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

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By Kira Dineen, Gene Pool Media

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