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URMC / Center for Health + Technology / Our Expertise / CHeT Outcomes / Our 5 Pivotal Studies

Our 5 Pivotal Studies

Our disease-specific instruments are designed to detect and quantify clinically meaningful changes in symptomatic health in response to therapeutic interventions. In many instances, our instruments detect therapeutic benefit prior to traditional outcome measures. Below are select examples where our instruments have been shown to identify and support a therapeutic gain in the context of a clinical trial.

Neurocrine Biosciences LogoHuntington’s Disease (HD-HI)

Neurocrine Biosciences

In 2023, Neurocrine Biosciences published the results of their study evaluating the use of valbenazine as a potential treatment for patients with Huntington’s disease. In conjunction with the primary outcome measure, the total maximal chorea score of the Unified Huntington’s Disease Rating Scale (UHDRS-TMC), the HD-HI’s abnormal movement subscale detected a statistical and clinically-meaningful benefit over placebo.

In 2023, the FDA granted valbenazine a drug approval based on data from this study.

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Spinraza Injection and University of Washington LogosSpinal Muscular Atrophy (SMA-HI)

Spinraza

During a study for Nusinersen in Adults With Spinal Muscular Atrophy, conducted at Washington University by Dr. Craig Zaidman, researchers found statistically and clinically significant patient improvements were detected by the SMA-HI prior to improvements with functional measures including the 6-minute walk distance, and revised Hammersmith scale highlighting the strength of well-crafted PROs as a therapeutic outcome measure. Such sensitivity has a usefulness given the regulatory need for efficient, short, and effect therapeutic trials.

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Starfish Pier and University of Rochester LogosFacioscapulohumeral Muscular Dystrophy (FSHD-HI)

STARFiSH Pier

In the STARFiSH study, the FSHD-HI subscale and total scores, as well as objective measures of ambulation, strength, lean body mass, and functional ability, demonstrated the effects of combination therapy in facioscapulohumeral muscular dystrophy (FSHD) patients. In contrast, the PROMIS-57 physical function scale lacked an ability to detect a therapeutic gain in this study.

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Charcot Marie Tooth (CMT-HI)

Applied Therapeutics

Applied Therapeutics LogoIn 2024, Applied Therapeutics announced positive results from a 12-month interim analysis of Govorestat (AT 007) in the ongoing INSPIRE phase 3 trial in sorbitol dehydrogenase (SORD) deficiency. In this announcement, the CMT-HI was reported to demonstrat a treatment effect involving lower limb function, mobility, fatigue, pain, sensory function, and upper limb function.

From their press release:"Highly statistically significant effects on the CMT Health Index (CMT HI) patient reported outcome measure (p=0.01), with benefit of govorestat on categories of lower limb function, mobility, fatigue, pain, sensory function, and upper limb function"

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Dyne Therapeutics LogoMyotonic Dystrophy Type 1 (MDHI)

Dyne Therapeutics

In 2025, Dyne Therapeutics announced meaningful and sustained improvement from baseline in the MDHI, including 6 MDHI subscales assessing central nervous system disease manifestations (cognitive impairment, sleep disturbances, fatigue, communication, emotional issues and pain) in the ACHIEVE Trial of Zeleciment Basivarsen (DYNE-101) for Myotonic Dystrophy Type 1 (DM1).

From their press release: Dyne Therapeutics Announces Additional One-Year Clinical Data Demonstrating Functional Improvement from Phase 1/2 ACHIEVE Trial of Zeleciment Basivarsen (DYNE-101) for Myotonic Dystrophy Type 1 (DM1)

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