New Huntington’s disease research puts patients ‘FuRST’

Huntington’s disease (HD) has cast a long shadow over my wife Jill’s family tree. When she was diagnosed in 2018, we knew we’d be fighting the same enemy that had taken her father and many other relatives on his side of the family.

Today, we focus on what gives us hope, such as the work of Matthew W. Roché, PhD, and Neha Sinha, PhD, of the CHDI Foundation’s Clinical Outcomes group. Participation in their research could help shape the future for families like ours.

What impresses me about them is their commitment to patient-reported outcome measures. Unlike traditional assessment methods, where clinicians observe and rate patients, their work with the Functional Rating Scale 2.0 (FuRST 2.0) puts the patient’s own experience at the center of evaluation.

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While living with HD, every day brings subtle changes that doctors’ traditional assessments often miss. When Jill struggles with tasks that were easy for her last month, or considers canceling plans at the last minute, these moments don’t show up on standard rating scales during neurologist appointments.

The Unified Huntington’s Disease Rating Scale’s Total Functional Capacity component that doctors rely on captures the bigger picture, but misses the early, nuanced changes that we notice at home — the ones that matter most to how we live our daily lives.

Detecting subtle but important changes

The CHDI Foundation’s Clinical Outcomes group recognized that existing tools often miss the earliest functional changes in HD progression and decided to develop the FuRST 2.0 Scale. It’s designed to capture the subtle functional changes that matter most to people living with HD, from difficulties with phone calls to challenges with driving. These changes often go undetected by standard clinical assessments.

What makes the FuRST 2.0 unique is its focus on stage 2 and mild stage 3 of the HD staging system, which is where Jill finds herself now. Current assessment tools often show “ceiling effects” during these critical early phases, meaning they’re not sensitive enough to detect the subtle changes that are actually happening.

It’s like trying to measure a whisper with equipment designed for a Taylor Swift concert: The instruments are calibrated for dramatic, obvious changes but completely miss the nuanced variations that matter most in early detection.

Under Roché, Sinha, and the rest of the Clinical Outcomes group, the FuRST 2.0 development exemplifies how HD research should be conducted, in my opinion. The scale was developed through focus groups and expert panels with HD families, after multiple rounds of cognitive interviews to ensure questions are meaningful to patients. HD patients and families from six countries collaborated.

This wasn’t research done to us; it was done with us.

The broader implications extend far beyond individual doctor appointments. This research is being conducted with informal guidance from the U.S. Food and Drug Administration, meaning it’s designed to meet regulatory standards for clinical trials. When pharmaceutical companies can better measure the effectiveness of treatments using tools that capture what patients actually experience, it could lead to more successful drug development and faster approval of treatments that make meaningful differences in our daily lives.

Jill and I have learned that HD research succeeds only when our community participates. The FOCUS-HD Online study, which will determine whether FuRST 2.0 can capture information about the functional abilities of gene-positive people in reliable and accurate ways, takes about 20 minutes to complete and is completely anonymous. No personally identifying information is collected, yet every response contributes to validating a tool that could transform how HD is monitored and treated.

For families wondering if their participation matters, consider this: Early interventions may be crucial for slowing HD’s progression, but we can only develop those interventions if we have tools that are sensitive enough to measure their effectiveness.

Having watched HD claim so many of Jill’s family members, we understand the urgency of advancing research. Each family’s experience adds to the collective knowledge that researchers need to develop better treatments. The FOCUS-HD Online study represents exactly the kind of patient-centered research that could change outcomes for future families facing HD.

If you’re 18 or older and have been diagnosed with HD, we encourage you to consider participating. The study represents hope that future clinical assessments will capture the subtle changes we notice at home, hope that clinical trials will measure outcomes that truly matter to patients, and hope that the patient voice will continue to guide the development of better treatments.

In a disease that has taken so much from our families, contributing to research that prioritizes the patient perspective feels like fighting back.

For additional questions about the study, contact [email protected].

Note: Huntington’s Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Huntington’s Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Huntington’s disease.