Gaucher DiseaseNCT03190837
A Long-term Follow-up Study of Gaucher Disease
An observational study of Gaucher Disease, run by Duke University at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Gaucher Disease
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 12 Jun 2017to Jan 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Child, Adult, Older adult
Study population: We will be recruiting patients with Gaucher Disease of all ages, followed at Duke University Medical Center, or non-Duke patients who have contacted Duke and expressed interest in participating.
Who may be able to join
- Diagnosis of Gaucher Disease
Who cannot join
- Not meeting Inclusion criteria
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Duke University Medical Center
Durham, North Carolina, 27710
About this study
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.
Read the detailed description
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.
- Conditions
- Gaucher Disease
- Keywords
- gaucher, gaucher disease
- Medical subject headings
- Gaucher Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Document effects of Gaucher disease in different systems of body, including nervous system, liver, and spleen.
Use Gaucher patient's natural histories to understand effects of Gaucher Disease long term.
Measured: 10 years
Secondary outcomes (7)
Document adverse events subjects experience on enzyme replacement therapy
Use Gaucher patient's therapy history to understand effects of enzyme replacement therapy long term.
Measured: 10 years
Document adverse events of subjects on substrate reduction therapy
Use Gaucher patient's therapy history to understand effects of substrate reduction therapy long term.
Measured: 10 years
Document long-term complications in Gaucher Disease.
Use Gaucher patient's natural histories to understand long-term complications of Gaucher Disease.
Measured: 10 years
Change in 36-Item Short Form Survey (SF-36) collected every 6 months/1 year.
We will use the SF-36 that will be collected every 6 months to 1 year to assess quality-of-life in Gaucher patients.
Measured: 10 years
Change in Small Fiber Neuropathy Screening List (SFNSL) collected every 6 months/1 year.
The investigators will use the Small Fiber Neuropathy Screening List every 6 months to 1 year to monitor small fiber neuropathy symptoms in Gaucher patients.
Measured: 10 years
Document number of subjects experiencing neurological symptoms related to Gaucher, by using Neurological Follow-up exam
The investigators will use the Neurological follow-up exam, that will be performed at return visit and every 6 months to 1 year afterward, to screen patients for neurological symptoms related to Gaucher Disease.
Measured: 10 years
Change in Parkinson's checklist collected every 6 months/1 year.
The investigators will use the Parkinson's checklist that will be collected every 6 months to 1 year to screen patients for Parkinson's symptoms potentially related to Gaucher Disease.
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jun 2017
- Study start12 Jun 2017
- Primary completionJan 2028 (estimated)
- Study completionJan 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- More trials run by Duke UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Duke University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Priya Kishnani, MD, Principal investigator, Duke University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03190837
- Sponsor's protocol ID
- Pro00081246
- Status last verified
- Sep 2026
- First submitted
- 26 May 2017
- Last updated
- 3 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Long-term Follow-up Study of Gaucher Disease
- ClinicalTrials.gov ID
- NCT03190837
- Acronym / sponsor ID
- Pro00081246
- Conditions
- Gaucher Disease
- Keywords
- gaucher, gaucher disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Duke UniversityUniversity, hospital or other
- Study start
- 12 Jun 2017 (actual)
- Primary completion
- Jan 2028 (estimated)
- Study completion
- Jan 2028 (estimated)
- First posted
- 19 Jun 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- We will be recruiting patients with Gaucher Disease of all ages, followed at Duke University Medical Center, or non-Duke patients who have contacted Duke and expressed interest in participating.
Key inclusion criteria (1 listed)
- Diagnosis of Gaucher Disease
Key exclusion criteria (1 listed)
- Not meeting Inclusion criteria
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Document effects of Gaucher disease in different systems of body, including nervous system, liver, and spleen.
Time frame: 10 years
Use Gaucher patient's natural histories to understand effects of Gaucher Disease long term.
7 secondary outcomes
Document adverse events subjects experience on enzyme replacement therapy
Time frame: 10 years
Document adverse events of subjects on substrate reduction therapy
Time frame: 10 years
Document long-term complications in Gaucher Disease.
Time frame: 10 years
Change in 36-Item Short Form Survey (SF-36) collected every 6 months/1 year.
Time frame: 10 years
Change in Small Fiber Neuropathy Screening List (SFNSL) collected every 6 months/1 year.
Time frame: 10 years
Document number of subjects experiencing neurological symptoms related to Gaucher, by using Neurological Follow-up exam
Time frame: 10 years
Change in Parkinson's checklist collected every 6 months/1 year.
Time frame: 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Sep 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Priya Kishnani, MD principal investigator
Duke University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease, run by Duke University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Janet Blount (919-681-7962, janet.blount@duke.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Document effects of Gaucher disease in different systems of body, including nervous system, liver, and spleen. (time frame: 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Sep 2026; AzTrials last refreshed its copy on 1 Nov 2026.