Study Title: The Lysosomal Acid Lipase Deficiency-Health Index (LALD-HI): Development of a
Caregiver-Reported Outcome Measure for Lysosomal Acid Lipase Deficiency (LAL-D)
Subtitle: The Lysosomal Acid Lipase Deficiency-Health Index (LALD-HI)
Principal Investigator: Chad Heatwole, MD, MS-CI
What: Researchers at the University of Rochester are interested in creating a caregiver-reported outcome measure that will assess health, symptoms, and disease burden of individuals with a lysosomal acid lipase deficiency (LAL-D), as reported by the caregiver. This study is being completed by Dr. Chad Heatwole from the University of Rochester Department of Neurology. This study aims to identify the symptoms that have the greatest impact on quality-of-life for individuals with LAL-D. This will help guide future research involving LAL-D patients.
Who can participate: In order to participate, you must:
Be 18 years old or older
Live in the United States, United Kingdom or Canada
Provide care for an individual diagnosed with lysosomal acid lipase deficiency (LAL-D)
(The individual with LAL-D can be of any age)
Speak English
What’s involved: As a participant in this study, you will speak with an interviewer about the symptoms of LAL-D that the individual for whom you care experiences and how it affects their life.
This interview will take approximately 30-60 minutes and will be audio-recorded, transcribed, and data analyzed. All responses will be anonymous and strictly confidential. How to participate: Interested participants can reach out to the appropriate study coordinator based upon the age of the infant or child for whom you care via email or phone:
For Caregivers of Infants Ages 0-2
Jennifer Weinstein
Phone Number: 585-419-5335 (residents of US or Canada) +1 585 419-5335 (residents of UK)
Email Address: jennifer.weinstein@chet.rochester.edu
For Caregivers of Children Ages 2+
Charlotte Engebrecht
Phone Number: 585-200-7136 (residents of US or Canada) +1 585 200-7136 (residents of UK)
Email Address: charlotte.engebrecht@chet.rochester.edu
Any questions or comments can be directed to the study coordinator.