Current Research Protocols

Palo Alto University Research on the Psychosocial and Neurocognitive Impacts of Gaucher Disease Type 1 on Pediatric and Young Adult Patients

Andrea Alioto, M.S. and Wendy Packman, J.D., Ph.D of Palo Alto University are conducting a study on the psychological and cognitive impacts of Gaucher Disease type 1 on pediatric and young adult patients. The study is seeking more participants between the ages of 5 – 30 and their parents. Participation involves completion of questionnaires, both for parents as well as child/young adult, which are mailed to participants with a prepaid return envelope. Completion of questionnaires take 35 – 90 minutes. Learn more at http://gaucherstudy.com/.

Emory University Newborn Screening Study

Emory University is conducting a study pertaining to the perspectives about newborn screening for Gaucher disease. Eligible participants are 18 years or older who have a clinical diagnosis of Gaucher disease and are fluent in English. Participants will be scheduled for a 30-40 minute recorded telephone interview and will be compensated with a $25 Amazon gift card. If interested, please contact Nadia Ali, Ph.D. at 404-778-8613 or email her at nadia.ali@emory.edu.

Parkinson’s Progression Markers Initiative

People with Gaucher disease and those with Parkinson’s disease (PD) can share a common link: mutations in the GBA gene.

Identifying and evaluating people who carry a GBA mutation, whether they have Gaucher or PD or are related to someone living with one of these diseases, is vital to helping scientists learn more and develop improved treatments.

The Parkinson’s Progression Markers Initiative (PPMI) is a landmark clinical study sponsored by The Michael J. Fox Foundation to better understand the progression of and risk factors for Parkinson’s disease. Individuals of Eastern European (Ashkenazi) Jewish descent are more likely than the general population to carry a mutation in the GBA gene. PPMI provides genetic counseling and testing for GBA mutations at no cost to individuals of Ashkenazi Jewish descent who:

  • Have Gaucher disease and are age 45 or older
  • Do not have Gaucher disease but are age 45 or older and have a first-degree relative with Gaucher
  • Have Parkinson’s disease and are age 18 or older
  • Do not have PD but are age 45 or older and have a first-degree relative with PD

If you would like to learn more about counseling and testing for this research study, or if you have a GBA mutation and are interested in participating:

VISIT WWW.MICHAELJFOX.ORG/PPMI/GENETICS OR CALL 888 830 6299


GD Type 1 Survey: Understanding the Importance of Varied Aspects of Treatments

Sanofi Genzyme in collaboration with Mapi is recruiting patients with Gaucher disease type 1 to participate in a survey to understand the importance of different aspects of hypothetical treatments for Gaucher disease type 1. The survey will take approximately 60 minutes to complete during which patients will be asked to make decisions about which hypothetical treatment options they prefer. Participants will receive an Amazon gift card for the value of $100 for completing the survey.

If you are interested in taking part, please click on the link to see if you are eligible to participate.


Research study to investigate LSD patients’ perception of their treatment is recruiting Gaucher participants.

Dr. Amel Karaa, Clinical Director of the Lysosomal Storage Disease Program at Massachusetts General Hospital, is conducting a survey of Gaucher, Fabry and Pompe patients. Participation is completing a brief survey that takes approximately 15 minutes to complete. It will ask your opinion about the use of Enzyme Replacement Therapy (ERT) and Substrate reduction therapy (SRT). All surveys are anonymous and all information is de-identified. To take the survey, click on the link and follow the instructions.


Research protocol studying inflammation in those with GD Type 1 is recruiting participants

Are you an adult 18 years of age or older, who has been diagnosed with Gaucher disease and currently on stable treatment for at least 6 months? If so, there is a clinical trial in which you might want to participate. The research focuses on understanding the role of oxidative stress and inflammation in Type 1 Gaucher disease and examines whether a nutritional supplement improves these two factors. This study is recruiting patients throughout the United States. For more information, please click here.


Research protocol for Type 3 Gaucher is recruiting participants

A research study for an orally administered substrate reduction therapy treatment in Gaucher disease type 3 as part of the 2-part LEAP clinical research study. You may be eligible to participate if you are 18 years of age or older, have Gaucher disease type 1 (part 1 only) or have Gaucher disease type 3 (must complete part 1 to participate in part 2), and have received treatment with enzyme replacement therapy for at least 3 years and received Cerezyme at a stable dose for the past 6 months.
For more information, visit www.clinicaltrials.gov, using study identifier NCT02843035.


Research investigation for Type 2 Gaucher is seeking participants

This study is to investigate the current natural history of type 2 Gaucher disease. Participants are parents of children affected with Type 2 Gaucher (both alive and deceased). Research is being conducted at NIH through interviewing families to better chronicle the clinical course and complications encountered currently. A five page questionnaire will be used during the interview process that will be conducted via the telephone, which takes approximately 1 hour to complete. This questionnaire will consist of questions regarding his disease and the disease progression. If interested, please contact Tamanna at tamanna.roshanlal@nih.gov


Research study about bone involvement associated with Gaucher disease seeking patient participation.

Are you an adult 18 – 65 years of age who has been diagnosed with Gaucher disease and are not currently receiving treatment (within the past 12 months)? If so, there is a new research protocol enrolling participants that may be for you. The research focuses on the possible improvement in bone involvement associated with Gaucher disease.

This study is recruiting patients at several sites throughout the world. For more information, please visit www.gauchertype1study.com

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