An AAV capsid reprogrammed to bind human transferrin receptor mediates brain-wide gene delivery
(May 2024)
Developing vehicles that efficiently deliver genes throughout the human central nervous system (CNS) will broaden the range of treatable genetic diseases. We engineered an adeno-associated virus (AAV) capsid, BI-hTFR1, that binds human transferrin receptor (TfR1), a protein expressed on the blood-brain barrier (BBB). BI-hTFR1 was actively transported across human brain endothelial cells and, relative to AAV9, provided 40–50 times greater reporter expression in the CNS of human TFRC knock-in mice. The enhanced tropism was CNS-specific and absent in wild type mice. When used to deliver GBA1, mutations of which cause Gaucher disease and are linked to Parkinson’s disease, BI-hTFR1 substantially increased brain and cerebrospinal fluid glucocerebrosidase activity compared to AAV9. These findings establish BI-hTFR1 as a potential vector for human CNS gene therapy.
Learn more here
Takeda Seeks Blood Samples for New Investigational Drugs/Therapeutics
(March 2022)
Takeda Pharmaceuticals, a global, values-based, R&D-driven biopharmaceutical leader committed to discovering and delivering life-transforming treatments, is looking for people living with Gaucher disease (Types 1 and 3) to donate blood samples to help support our research and drug development efforts.
Blood donations from these samples will be used to test new investigational drugs/therapeutics for clearing waste products from blood cells. We will arrange for blood to be drawn in the convenience of your home by a third party, and will also request that you fill out a small questionnaire about your history with Gaucher disease. While personal health information (PHI) will be collected, all samples and data will be coded, and PHI redacted, prior to release to Takeda investigators.
If you are willing to donate about 75-100mL of blood (~15-20 tsp), only once, then please contact Isis Rivera at 855-836-4759 or email: SubjectSubmissions@sanguinebio.com. Thank you for your kind consideration.
Face2Gene by FDNA
(November 2021)
Many genetic syndromes are associated with the appearance or gradual development of distinctive facial characteristics in affected individuals. FDNA has developed Face2Gene, a technology that analyzes facial photos to identify facial morphology associated with rare diseases. This is a free tool used by hundreds of geneticists worldwide and the technology converts facial photos into a de-identified mathematical algorithm that describes the characteristics of each facial feature. FDNA is collecting data from images of individuals with confirmed diagnosis of many different genetic diseases to further improve this technology. As more data is collected, the technology learns and becomes more accurate for the benefit of the entire genetic expert community and the individuals who seek their care.
You are invited to participate in this project. Upload or send in facial photos of individuals with a confirmed Gaucher diagnosis – all types – to this secure and private portal dedicated to assist in training the technology. Serial photos of the same individual at different ages are particularly useful to demonstrate changes over time.
FDNA applies the highest standards of security for this online portal to ensure the most stringent privacy compliance.
Learn more about the project or contact FDNA with questions.
Prevail Therapeutics PR001 Gene Therapy Trials
(October, 2021)
Prevail Therapeutics, a wholly owned subsidiary of Eli Lilly and Company, is currently conducting a Phase 1/2 clinical trial, called PROVIDE, assessing the safety and efficacy of PR001, a potentially disease-modifying, single-dose gene therapy for infants diagnosed with Type 2 Gaucher disease (GD2).
More information about PROVIDE, including full study details and eligibility criteria, can be found at ClinicalTrials.gov: www.clinicaltrials.gov/ct2/show/NCT04411654.
In an ongoing effort to support access to clinical trials for families in the U.S., Prevail is pleased to announce the opening of two new PROVIDE sites at the University of Minnesota Masonic Children’s Hospital and Children’s Hospital of Pittsburgh.
Families with a child affected by GD2 interested in exploring their child’s eligibility to participate in the PROVIDE trial may reach out directly to the sites using the contact information below:
University of Minnesota Masonic Children’s Hospital
2450 Riverside Avenue, Minneapolis, MN, 55454
Contact: Carrie Gibson
Phone: 612-672-7013
E-mail: Cgibson1@fairview.org
Children’s Hospital of Pittsburgh
4401 Penn Avenue, Pittsburgh PA 15224
Contacts: Jodi Martin, Sarah Klotz
Emails: sausjl@upmc.edu / klotzse@upmc.ed
Please note: clinical trial participant selection is at the discretion of trial site investigator and not Prevail Therapeutics, and any consideration of participating in clinical studies or questions related to your child’s medical condition or treatment should be discussed with his/her healthcare professional.
For general questions about Prevail Therapeutics or their GD2 program, please contact patients@prevailtherapeutics.com.
GuardOne Study
(October 2021)
AVROBIO is now recruiting patients with Gaucher disease type 1 for the GuardOne study. GuardOne is a multinational, phase 1/2 clinical trial evaluating the safety and efficacy of an investigational lentiviral gene therapy called AVR-RD-02 for individuals with type 1 Gaucher disease. For more information about this trial, talk to your doctor or visit gaucherclinicaltrialsus.com
Gaucher Disease Type 3 Focus Group
(August 2021)
AVROBIO is seeking the help of the Gaucher type 3 community to help inform future clinical trials. Parents of young children with Gaucher type 3 and adults living with GD3 are invited to participate in a two-hour virtual focus group with a 1 hour a pre-meeting discussion. The meeting will occur within the next 2 months. Participants will receive payment for their time. Interested individuals can inquire about possible participation at patients@avrobio.com before August 27, 2021.
Market Research Study: Experiences Living with Gaucher Disease
(August, 2021)
Sanofi Genzyme is sponsoring a market research study conducted by Pinpoint Patient Recruiting to understand the experiences of those living with Gaucher disease. If you or someone you care for has been diagnosed with Gaucher Disease, you may qualify to participate in this study about your experience that will help create more patient friendly treatments and clinical trials. Your participation will help others and would involve a 15-minute online activity and a 60-min virtual interview.
If you qualify and complete both activities, you will be paid $125 for your time and participation. There may also be an opportunity to complete an additional online journal activity. Your information will be kept private and anonymous.
Interested or have questions? Contact Pinpoint Patient Recruiting, to see if you qualify by filling in the simple form or email Michelle Valada.
Multicenter, Interventional, Retrospective and Prospective Study of VPRIV Clinical Outcomes and Safety in GD Type 1 Patients Previously Treated with SRT
(May 2021)
A Takeda research study is underway to describe the experience of people living with Gaucher Disease Type 1 (GD1) who have changed from SRT (substrate reduction therapy) to velaglucerase alfa (VPRIV) treatment, an ERT (enzyme replacement therapy) including monitoring changes in important disease markers.
This study will also explore the use of a smartphone application (mobile app) with a conversation by text feature to evaluate how people living with GD1, and their health care providers, communicate and make decisions about care and how the app can help with those conversations.
Interviews with patients enrolled in the study and living with GD1, and their healthcare providers, will be conducted to evaluate usefulness of and experience with the mobile app.
This study can be done by videoconference or in person. If interested, please contact the study site: Dr. Goker-Alpan, MD, Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Natural History Protocol
(January 2021)
The NIH is conducting a Natural History Study pertaining to those who have Gaucher disease. Current research interests include the connection between Gaucher and Parkinson disease, chaperone therapy drug development, and longitudinal study of individuals of all ages.
Testing may include a physical and neurological exam by the study team, blood draw, abdominal MRI, DEXA, X-rays, echocardiogram, memory testing, and/or other tests specific to your needs.
Eligibility: Participants may include anyone with Gaucher disease and first-degree family members.
For more information, please email either Dr. Ellen Sidransky, M.D., Dr. Grisel Lopez, M. D., or Emory Ryan, MSN directly.
Study Examining In-Utero Treatment of Gaucher Disease Types 2 and 3
The Univeristy of California San Francisco is conducting a study examining in utero treatment for nGD. Currently, children with Gaucher disease can be treated with enzyme replacement therapy (ERT) after birth, which slows the progress of the disease.
The clinicians conducting the study believe that giving ERT before birth could help patients with Gaucher even more. They have studied mice with a different lysosomal storage disease, Mucopolysaccharidosis type 7, and gave them ERT before birth. Mice treated with ERT before birth had better outcomes than mice treated with ERT after birth.
They are initiating a clinical trial to give ERT to fetuses with several lysosomal storage diseases, including Gaucher Types 2 and 3. The possible benefits of giving ERT before birth are avoiding the development of antibodies to the enzyme, crossing the blood brain barrier, and preventing the disease from starting to cause damage to the brain and other organs.
Engaging the patient community is crucial in developing novel therapies. As such, they are surveying Gaucher parents’ and patients’ attitudes towards fetal therapy.
The survey includes an introduction to the project as well as consent. If you have questions please contact Dr. Marisa Schwab.
Survey Study on the Association of GBA Mutations and Parkinson’s Disease
Researchers at the Icahn School of Medicine at Mount Sinai are seeking volunteers at least 18 years of age who are carriers of Gaucher disease, i.e. have 1 change in the GBA gene, for a survey study aiming to learn more about the attitudes and knowledge of Gaucher disease carriers on the risk association of Parkinson disease. The study requires participants to answer an anonymous survey, taking less than 5 minutes to complete. For more information, contact Nora Nesheiwat at 212-241-9414.
Survey: Knowledge and Attitudes of Parkinson Disease Risk in the Gaucher Population
The Icahn School of Medicine at Mount Sinai has established a new research study geared to learning more about the perspectives of individuals with Gaucher disease. The goal of the study is to collect information on knowledge of and attitudes about the association between Gaucher disease and Parkinson disease.
Eligible participants for the online survey study are over the age of 18 and have a confirmed diagnosis of Gaucher disease. The survey is anonymous and will take approximately 5-10 minutes to complete.
This survey study was created as part of a master’s thesis project for genetic counseling student, Leah Zaretsky, under the mentorship of Dr. Manisha Balwani, Dr. Roy Alcalay, and Natasha Zeid MS, CGC.
Artifical Intelligence’s Effect on those living with Lysosomal Storage Disorders
Georgia Loucopoulos, Candidate for MMSc in Genetic Counseling at Emory University, is conducting a study that seeks to determine if ThinkGenetic.com, a website that utilizes artifical intelligence, helps those living with a lysosomal storage disorder. 200 participants are sought.
Eligible participants are individuals who have been diagnosed with a lysosomal storage disorder as well as any family members. It is a 3 part study consisting of a pre-survey, time for research on ThinkGenetic.com, and a post-survey. Participants who complete all three parts receive a $25 gift card for their time. Interested? Begin the study. Questions? Email Georgia directly.
Parkinson’s Progression Markers Initiative
Be part of the Genetics Research Revolution in Parkinson’s Disease
Individuals 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 disease 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 PD.
PPMI is currently studying the connection between PD and mutations in the GBA gene.
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 disease
- Have PD and are age 18 or older
- Do not have PD but are age 45 or older and have a first-degree relative with PD
Visit WWW.MICHAELJFOX.ORG/PPMI/GENETICS to learn more about counseling and testing for this research study.
Rare Disease Self-Identification Tool
The Global Genes Medical and Scientific Advisory Board members in partnership with Engage Health, Inc. & LapidusData are developing an amazing tool that could significantly impact the rare disease community. It is called the “Rare Disease Self– Identification Tool“. The tool will help patients and patient advocates understand that they may be affected by one of the 7,000 identified rare diseases. You can help in the development of the tool by taking approximately 10 minutes to answer survey questions, HERE
Clinical Study on Parkinson Disease and Deep Brain Stimulation Seeks Participants
Participants sought for clinical study about the level of cognitive decline experienced by patients who have Parkinson disease and are treated with Deep Brain Stimulation (DBS). Parkinson disease affects at least 1 million people in the U.S. Each year, 9,000 Parkinson disease patients undergo deep brain stimulation placement; which improves their motor skills. Despite their motor improvement, up to 50% of patients have some level of cognitive (thought process) impairment after DBS. Carriers of mutations in the glucocerebrosidase (GBA) gene are at particularly high risk for cognitive impairment. This study seeks to determine the differences in cognitive decline between patients with Parkinson disease who are carriers of the GBA gene mutation as compared to Parkinson patients who are carriers of the GBA gene mutation without previous therapy with deep brain stimulation as well as non-mutation carriers with and without deep brain stimulation. Understanding if there is an association between the GBA gene and DBS will enable clinicians to identify individuals at risk for worsened cognitive dysfunction and prevent additional harm. Learn more at clinicaltrials.gov (NCT03234478).
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.
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
