University of Rochester – Phase 4 Study

27 Jul, 2026 | blog

Universidad de Rochester

University of Rochester Seeks Participants for Final Validation Study of a New Lysosomal Acid Lipase Deficiency (LAL-D) Assessment Tool

The University of Rochester (United States) is conducting the final phase of a research study aimed at developing and validating the LALD-HI (Lysosomal Acid Lipase Deficiency Health Index), a disease-specific tool designed to assess the impact of Lysosomal Acid Lipase Deficiency (LAL-D) on quality of life from the caregiver’s perspective.

In this final phase, researchers are evaluating whether the questionnaires provide consistent results over time. Participants will be asked to complete an online survey on two occasions, approximately two weeks apart. Each survey takes less than 10 minutes to complete.

Who Can Participate?

Eligible participants include:

  • Current or former caregivers of an individual with LAL-D.
  • Adults (18 years of age or older) diagnosed with LAL-D.
  • Individuals who can read and understand English.
  • Residents of the European Union, United Kingdom, United States, Canada, or Australia.

Why Is This Study Important?

Validated disease-specific outcome measures are essential for improving rare disease research and evaluating future treatments. By participating in this study, caregivers and individuals living with LAL-D can help ensure that the aspects of the disease that matter most to patients and families are adequately captured in future clinical trials and research studies.

Learn More and Participate

Individuals interested in participating or learning more about the study can contact the University of Rochester research team:

At LAL-D Patient Organization, we encourage eligible caregivers and adults living with LAL-D to consider taking part in this international initiative. Community participation plays a vital role in advancing research and supporting the development of tools that better reflect the real-life impact of LAL-D.