Patient Voices Needed to Shape Gene Therapy for SDS — Two Opportunities to Make It Count

2 days ago

4 min read

Mockup of the new SDS gene therapy perspectives survey for Shwachman-Diamond Syndrome on our SDS-GPS survey and collaboration platform, next to our iconic lego figure with a graphic of DNA and a checkmark to symbolize gene editing. The caption reads: Two opportunities how YOU can help move gene therapy forward for SDS. — The new **Patient Perspectives on Gene Therapy Trials** survey is now available on SDS-GPS, our Global Patient Survey and Collaboration Program. Join today!

Welcome to SDS Spotlight — our monthly series where Eszter shares a quick update on what we're working on, what we're excited about, and how YOU can get involved. Each month features a short video and a deeper dive right here on the blog.

https://youtu.be/sQMhkdAjE84

In this month's SDS Spotlight, Eszter Hars, Ph.D. introduces two opportunities for patients and families to help shape how gene therapy for SDS gets developed — before trials open.

Gene therapy for SDS is advancing. Early lab studies are promising. The tools — base editing and prime editing — are already being tested for other blood disorders, in real people. For SDS, researchers have shown they work in early lab studies. No clinical trial yet — but we are closer than ever.

And this is the moment when your voice can make the biggest difference.

Why Patient Perspectives Matter — and Why Now

When researchers consider and plan gene therapy trials for rare disorders such as Shwachman-Diamond Syndrome (SDS), they must make dozens of decisions that go far beyond science alone. Who should be eligible? Should a therapy be offered preventively — before complications develop — or only when the situation becomes more urgent? How do patients and families weigh the risks of an experimental therapy against the risks of waiting? What would make a patient or family say yes, and what would make them say no?

You can't find the answer to these questions in a lab or medical records. Only people who live with SDS every day can provide the answers. And for a rare disease like SDS — where the patient population is small and every voice counts — structured, systematic input from the community is essential.

Patient perspectives are used in all key aspects of research in therapy development:

The FDA uses patient input to inform benefit-risk assessments when reviewing new therapies.
Drug developers use it to design clinical trials, select meaningful endpoints (decide what to measure), and understand what the patient population actually needs.
Researchers cite it in grant applications, funding requests, and regulatory applications to demonstrate that their work is grounded in patient-identified priorities.

The time to share your perspective is now, during the trial planning stage, when the answers can still influence who is included, what outcomes are measured, and how the therapy is delivered. Once a trial is underway, it is much harder to change course.

Opportunity 1: The SDS-GPS Gene Therapy Perspectives Survey

SDS Alliance has launched a gene therapy perspectives survey on SDS-GPS — our IRB-approved, safe and secure global patient survey program.

The survey asks about your priorities, your concerns, and your perspectives on three approaches being studied for SDS. It takes about 45 minutes and covers questions researchers and regulators actually need answered — including how families think about preventive versus reactive approaches, what risks feel acceptable, and what it would actually take to say yes to participating in a clinical trial.

Your responses will go to researchers working on SDS gene therapy and help shape trial design.

The survey is live now. Once you log in to SDS-GPS, it will pop up automatically, or you can find it on your dashboard under surveys. You may have also received an automatic email about it.

Go to the new survey on SDS-GPS (existing users)

If you are not yet on SDS-GPS, setting up your account is free and takes about 30–60 minutes to fill out the baseline surveys. You can take breaks anytime. If available, upload your genetic testing report along the way, or later if you prefer.

Set up your SDS-GPS account (new users)

Not Sure Where to Start? Explore the Interactive Guide First

If you would like to understand the gene therapy landscape before taking the survey, our free interactive guide walks you through the three approaches being studied for SDS — in plain language, with animations and visuals, at your own pace. No scientific background needed.

Screenshot of the SDS Alliance interactive gene therapy guide showing the three approaches to fixing blood stem cells in SDS — ex vivo, in vivo, and transplant — displayed on a laptop screen. — Our new **interactive guide to gene therapy**, specifically for SDS patients and families.

The guide and the survey are designed to work together. The scenarios and concepts in the survey match those explained in the guide. Exploring the guide can help you be more familiar with the terms and concepts mentioned in the survey, but it's not required.

Explore the Gene Therapy Interactive Guide

If you want to dive even deeper, read the July blog post on gene therapy for SDS, which includes a video on the basics of SDS genetics and an expert introduction to gene and prime editing.

Opportunity 2: The GeneTX Study at St. Jude Children's Research Hospital

SDS Alliance is supporting recruitment for GeneTX — an IRB-approved research study led by the Bioethics Program at St. Jude Children's Research Hospital. The study aims to understand what gene therapy information and support people with Shwachman-Diamond Syndrome and their families need most.

Participation involves a 45–60 minute tele-interview. Participants age 18 or older may participate independently. Participants ages 8–17 participate with a caregiver present.

All participants receive $100.

Who may be eligible:

A person age 8 or older with SDS, or a caregiver of a person with SDS
The person with SDS has never been offered gene therapy (true for the whole SDS community at this time)

International families are welcome.

Participation is voluntary and does not obligate you to anything further.