ClinicalTrials.gov record NCT03190837
A Long-term Follow-up Study of Gaucher Disease
A Long-term Follow-up Study of Gaucher Disease
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This observational study collects and reviews long-term medical records from people with Gaucher disease to learn about the disease over time and about outcomes on enzyme replacement and substrate reduction therapies. Health information will be monitored at least annually and enrollment does not change standard medical care. Records from Duke-treated patients and from outside treating physicians may be requested.
What it is studying. Whether and how Gaucher disease affects people over many years, and what long-term outcomes and complications occur with enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). It also tracks nervous system, liver, spleen effects and patient-reported quality-of-life over time.
What the researchers hope to learn. To define the long-term natural history of Gaucher disease; to evaluate long-term outcomes and adverse events for enzyme replacement therapy and substrate reduction therapy; to identify long-term complications and document effects on nervous system, liver, and spleen; to track quality-of-life and neurological symptom changes over time.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
The study aims are to: a) identify the long-term natural history of Gaucher disease, b) evaluate long-term treatment efficacy of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), and c) identify potential long-term complications of this disorder. These aims will be accomplished through long-term record review of individuals with all three types of Gaucher disease.
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Diagnosis of Gaucher Disease
Exclusion criteria
- Not meeting Inclusion criteria
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
The study aims (aims a-c) will be accomplished by the systematic monitoring of health records. Health information will be extracted from medical records for patients followed at Duke. Medical records will be requested from treating physicians outside of Duke. The PI, (Dr. Kishnani) a recognized expert in Gaucher disease, is a consultant to the treating physician of virtually all subjects in this study. Subject health status will be monitored at least on an annual basis and as regularly as the medical information is obtained from the treating physician. Enrollment in this study will not alter the standard of care treatment for patients with Gaucher disease.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants allow the study team to review and extract their medical records (the team may request records from treating physicians). They may complete questionnaires (for example SF-36, Parkinson's checklist, and a Small Fiber Neuropathy screening list) and undergo neurological follow-up exams, typically every 6 months to 1 year. Health status will be monitored at least annually and records collected for long-term follow-up (outcomes are tracked over about 10 years). Enrollment will not change the participant's standard medical care.
How the study is structured. A prospective observational record-review study. Investigators extract health information from medical records kept at Duke and request outside records from treating physicians. Subjects' health status is monitored at least annually (and more often when records are available). Participation does not change the participant's usual care.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Gaucher disease
Important dates
- Study start
- Jun 12, 2017
- Primary completion
- January 2028 (estimated)
- Study completion
- January 2028 (estimated)
- Target enrollment
- 200 participants (estimated)
- Last updated on registry
- Sep 3, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Duke University
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Janet Blount 📞 919-681-7962 ✉ janet.blount@duke.edu
Participating sites (1)
- Duke University Medical CenterRecruiting
Durham, North Carolina, 27710 · United States
Terms used on this page · explanations by MedicalUpdates.ai
- natural history
- A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
- Inclusion criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- Enrollment
- The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
- standard of care
- Treatment generally considered appropriate for a condition in a particular clinical setting. It can vary by patient, place and over time. In many studies the new treatment is added to, or compared with, standard of care.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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