Parkinson DiseaseNCT00302146
Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations
An observational study of Parkinson Disease and Gaucher Disease, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
This study will use positron emission tomography (PET) to compare how people with Gaucher disease or Gaucher disease carriers with parkinsonism, and their family members, use dopamine in their brains in comparison with healthy normal volunteers and people who have Parkinson disease. Read more about this study
- Who is it for?
- Ages 18 to 110 years
- Conditions the study is for
- Parkinson Disease, Gaucher Disease
- What is being tested?
- 15-0 H20
- How many people
- 64 participants
- Where
- 1 siteUnited States
- Study dates
- 23 May 2006to not given
- Phase
- Observational
- Are there results?
- None posted in the registry
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 18 to 110 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: The study will include adult subjects age 21 or older. There will be two major study groups. The first will include subjects with parkinsonism to better characterize the parkinsonian phenotype and the second group will have unaffected yet at-risk individuals with or without a first degree family member with parkinsonism to explore early signs and symptoms of disease. Control subjects will include individuals without GBA1 mutations. Subjects with sporadic PD and healthy volunteers who do not have a family history of parkinsonism or Gaucher disease will be enrolled as control subjects.
Who may be able to join
- The study will include adult subjects age 21 or older. There will be two major study groups. The first will include subjects with parkinsonism to better characterize the parkinsonian phenotype and the second group will have unaffected yet at-risk individuals with or without a first degree family member with parkinsonism to explore early signs and symptoms of disease.
- Control subjects will include individuals without GBA1 mutations. Subjects with sporadic PD and healthy volunteers who do not have a family history of parkinsonism or Gaucher disease will be enrolled as control subjects.
- Healthy volunteers and control subjects with parkinsonism will be matched for age, gender and handedness for statistical purposes. When available, we would like to study unaffected siblings (without GBA1 mutations) of parkinsonian subjects. Sib-pair studies will especially be valuable to exclude both environmental and other genetic risk factors for the development of parkinsonian manifestations.
Who cannot join
- Subjects excluded from the study include those:
- with severe cognitive deficits impairing decision making at time of enrollment without an appointed surrogate decision maker.
- who are unable or it is medically unsafe to withdraw from their current medications, such as subjects on psychoactive medications. The subjects on medications that may affect CNS function may be included in the study only with an approval from the prescribing physician to discontinue their medications temporarily for the study.
- pregnant or nursing. All women of child bearing potential will undergo a pregnancy test.
- with a history of neurologic conditions such as stroke or any focal brain lesion that may result in parkinsonian manifestations, including subjects with deep brain stimulators
- cannot lie on his/her back for a prolonged period of time
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Functional Imaging in Subjects With Glucocerebrosidase Mutations
This study will use positron emission tomography (PET) to compare how people with Gaucher disease or Gaucher disease carriers with parkinsonism, and their family members, use dopamine in their brains in comparison with healthy normal volunteers and people who have Parkinson disease. PET assesses organ function by measuring metabolism. In this study, magnetic resonance imaging (MRI) is used in conjunction with PET to help better interpret and understand the information gleaned from PET.
People 21 years of age and older with the following conditions may be eligible for this study:
Read more
- Gaucher disease and parkinsonism
- Parkinsonism and a family history of Gaucher disease
- Gaucher disease and a family history of parkinsonism
- Gaucher disease carriers who have parkinsonism or a family history of parkinsonism
- Unaffected people with a family history of Gaucher disease and parkinsonism
- Healthy volunteers
Participants undergo the following tests and procedures:
- Personal and family medical history
- Physical examination
- PET scan: The subject lies on a table that slides into the PET scanner until his or her head is positioned properly in the scanner. A catheter is inserted into a vein. An initial scan is done to obtain images before radionuclides are injected. Radioactive water is then injected through the catheter and the subject is asked questions in order to stimulate blood flow in certain areas of the brain to show what parts of the brain are activated. Fluorodopa is then infused through the catheter over 3 minutes. The PET scan can last up to 2 hours.
- MRI scan: This test uses a magnetic field and radio waves to obtain images of organs. The subject lies still on a bed in the middle of a circular scanner for about 30 minutes.
Read the detailed description
An association between Gaucher disease and parkinsonism has been demonstrated by the concurrence of parkinsonian manifestations in patients with Gaucher disease and an increased incidence of glucocerebrosidase (GBA1) mutations in subjects with parkinsonism of various ethnicities. Furthermore, there are a significant number of obligate and confirmed Gaucher carriers with parkinsonian manifestations. In 2009, an international collaborative study demonstrated that the odds ratio for carrying a GBA1 mutation in subjects with PD was 5.43 (95% CI, 3.89 to 7.57), confirming definitively that mutations in this gene are a common risk factor for PD. A subsequent study in cohorts with Dementia with Lewy bodies showed that the odds ratio (>8) for carrying a GB1mutation was even higher in this associated synucleinopathy. However, in affected and at-risk individuals, the identification and characterization of early parkinsonian manifestations, and the rate of progression of symptoms have not been studied comprehensively and longitudinally. This in-vivo study employs multiple imaging modalities to better define the phenotype in GBA1-associated parkinsonism, follow disease progression, and identify at-risk individuals. The subjects include patients with Gaucher disease and Gaucher carriers with parkinsonian manifestations. In addition, clinically unaffected but at-risk individuals carrying GBA mutations, with and without a family history of parkinsonism will also be included. The control groups consist of individuals with Gaucher disease but no parkinsonian symptoms and relatives of probands without GBA mutations as well as PD patients without GBA mutations and healthy volunteers enrolled in NIMH clinical protocols. Positron emission tomography (PET) with 6-[F-18] Fluoro-L-Dopa (6FD) is used to evaluate presynaptic dopaminergic function, where 6FD uptake in putamen and striatum is employed as a measure of neuronal structural integrity in the substantia nigra. H(2)^15O PET is used to evaluate changes in resting regional cerebral blood flow (rCBF) associated with regional changes in cortical synaptic activity and metabolism. Each subject is screened with an MRI to rule-out anatomic brain abnormalities, and to further delineate areas of interest in the PET scans. Subjects also undergo transcranial ultrasonography (TCS) to assess the substantia nigra. The results of both the PET scans and TCS will be kept confidential, and will not be communicated to the individuals or families involved in the study. In addition to the imaging studies, all patients will undergo a physical and neurological examination, neurocognitive evaluation, olfactory testing and will be surveyed for potential non- motor manifestations.
- Conditions
- Parkinson Disease, Gaucher Disease
- Being tested
- 15-0 H20
- Keywords
- Lysosomal Storage Disorder, Carrier, L-Dopa Uptake, Glucocerebrosidase, Pathogenesis, Natural History, Gaucher Disease, Healthy Volunteer, HV
- Medical subject headings
- Parkinson Disease, Gaucher Disease, Lysosomal Storage Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
15-0 H20Drug
| Study group | Role | What they receive |
|---|---|---|
| Asymptomatic | Unaffected at-risk individuals with or without a first degree family member with parkinsonism, GD with and without a family history of PD, Gaucher carriers with and without a family history of PD. Receives: Drug: 15-0 H20 | |
| Control | Controls will include subjects without GBA mutations, with sporadic PD and healthy volunteers who do not have a family history of parkinsonism or Gaucher disease. Receives: Drug: 15-0 H20 | |
| PD | Subjects with parkinsonism to better characterize the parkinsonian phenotype (e.g.,GD/PD, Sporadic PD, Gaucher carrier PD). Receives: Drug: 15-0 H20 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Imaging techniques
Imaging techniques will evaluate whether there are early changes in cerebral L-Dopa stores associated with glucocerebrosidase mutations in subjects with and without parkinsonism.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Mar 2006 (estimated)
- Study start23 May 2006
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Parkinson DiseaseStudies of the same condition, open and under way.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 64 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Ellen Sidransky, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00302146
- Sponsor's protocol ID
- 060055
- Other IDs
- 06-HG-0055
- Status last verified
- 6 Mar 2026
- First submitted
- 11 Mar 2006
- Last updated
- 28 Sep 2026
- Results posted
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Yes: pending
Publications
Neudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, Aghai E, Reches A, Bembi B, Zimran A. Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM. 1996 Sep;89(9):691-4. doi: 10.1093/qjmed/89.9.691.
PubMed 8917744Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab. 2003 Jun;79(2):104-9. doi: 10.1016/s1096-7192(03)00071-4.
PubMed 12809640Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, Wakefield LK, Morrison A, Lwin A, Colegial C, Allman JM, Schiffmann R. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab. 2004 Jul;82(3):192-207. doi: 10.1016/j.ymgme.2004.04.011.
PubMed 15234332
Study at a glance
From the registry record, last updated by the sponsor on 28 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Functional Imaging in Subjects With Glucocerebrosidase Mutations
- ClinicalTrials.gov ID
- NCT00302146
- Acronym / sponsor ID
- 060055
- Conditions
- Parkinson Disease, Gaucher Disease
- Keywords
- Lysosomal Storage Disorder, Carrier, L-Dopa Uptake, Glucocerebrosidase, Pathogenesis, Natural History, Gaucher Disease, Healthy Volunteer
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 64 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 23 May 2006 (actual)
- First posted
- 13 Mar 2006 (estimated)
- 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.
This study will use positron emission tomography (PET) to compare how people with Gaucher disease or Gaucher disease carriers with parkinsonism, and their family members, use dopamine in their brains in comparison with healthy normal volunteers and people who have Parkinson disease. PET assesses organ function by measuring metabolism. In this study, magnetic resonance imaging (MRI) is used in conjunction with PET to help better interpret and understand the information gleaned from PET.
People 21 years of age and older with the following conditions may be eligible for this study:
- Gaucher disease and parkinsonism
- Parkinsonism and a family history of Gaucher disease
- Gaucher disease and a family history of parkinsonism
- Gaucher disease carriers who have parkinsonism or a family history of parkinsonism
- Unaffected people with a family history of Gaucher disease and parkinsonism
- Healthy volunteers
Participants undergo the following tests and procedures:
- Personal and family medical history
- Physical examination
- PET scan: The subject lies on a table that slides into the PET scanner until his or her head is positioned properly in the scanner. A catheter is inserted into a vein. An initial scan is done to obtain images before radionuclides are injected. Radioactive water is then injected through the catheter and the subject is asked questions in order to stimulate blood flow in certain areas of the brain to show what parts of the brain are activated. Fluorodopa is then infused through the catheter over 3 minutes. The PET scan can last up to 2 hours.
- MRI scan: This test uses a magnetic field and radio waves to obtain images of organs. The subject lies still on a bed in the middle of a circular scanner for about 30 minutes.
Detailed description
An association between Gaucher disease and parkinsonism has been demonstrated by the concurrence of parkinsonian manifestations in patients with Gaucher disease and an increased incidence of glucocerebrosidase (GBA1) mutations in subjects with parkinsonism of various ethnicities. Furthermore, there are a significant number of obligate and confirmed Gaucher carriers with parkinsonian manifestations. In 2009, an international collaborative study demonstrated that the odds ratio for carrying a GBA1 mutation in subjects with PD was 5.43 (95% CI, 3.89 to 7.57), confirming definitively that mutations in this gene are a common risk factor for PD. A subsequent study in cohorts with Dementia with Lewy bodies showed that the odds ratio (>8) for carrying a GB1mutation was even higher in this associated synucleinopathy. However, in affected and at-risk individuals, the identification and characterization of early parkinsonian manifestations, and the rate of progression of symptoms have not been studied comprehensively and longitudinally. This in-vivo study employs multiple imaging modalities to better define the phenotype in GBA1-associated parkinsonism, follow disease progression, and identify at-risk individuals. The subjects include patients with Gaucher disease and Gaucher carriers with parkinsonian manifestations. In addition, clinically unaffected but at-risk individuals carrying GBA mutations, with and without a family history of parkinsonism will also be included. The control groups consist of individuals with Gaucher disease but no parkinsonian symptoms and relatives of probands without GBA mutations as well as PD patients without GBA mutations and healthy volunteers enrolled in NIMH clinical protocols. Positron emission tomography (PET) with 6-[F-18] Fluoro-L-Dopa (6FD) is used to evaluate presynaptic dopaminergic function, where 6FD uptake in putamen and striatum is employed as a measure of neuronal structural integrity in the substantia nigra. H(2)^15O PET is used to evaluate changes in resting regional cerebral blood flow (rCBF) associated with regional changes in cortical synaptic activity and metabolism. Each subject is screened with an MRI to rule-out anatomic brain abnormalities, and to further delineate areas of interest in the PET scans. Subjects also undergo transcranial ultrasonography (TCS) to assess the substantia nigra. The results of both the PET scans and TCS will be kept confidential, and will not be communicated to the individuals or families involved in the study. In addition to the imaging studies, all patients will undergo a physical and neurological examination, neurocognitive evaluation, olfactory testing and will be surveyed for potential non- motor manifestations.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Asymptomatic | – | Drug: 15-0 H20Unaffected at-risk individuals with or without a first degree family member with parkinsonism, GD with and without a family history of PD, Gaucher carriers with and without a family history of PD. |
| Control | – | Drug: 15-0 H20Controls will include subjects without GBA mutations, with sporadic PD and healthy volunteers who do not have a family history of parkinsonism or Gaucher disease. |
| PD | – | Drug: 15-0 H20Subjects with parkinsonism to better characterize the parkinsonian phenotype (e.g.,GD/PD, Sporadic PD, Gaucher carrier PD). |
Who may qualify
- Ages
- 18 to 110 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The study will include adult subjects age 21 or older. There will be two major study groups. The first will include subjects with parkinsonism to better characterize the parkinsonian phenotype and the second group will have unaffected yet at-risk individuals with or without a first degree family member with parkinsonism to explore early signs and symptoms of disease. Control subjects will include individuals without GBA1 mutations. Subjects with sporadic PD and healthy volunteers who do not have a family history of parkinsonism or Gaucher disease will be enrolled as control subjects.
Key inclusion criteria (3 listed)
- The study will include adult subjects age 21 or older. There will be two major study groups. The first will include subjects with parkinsonism to better characterize the parkinsonian phenotype and the second group will have unaffected yet at-risk individuals with or without a first degree family member with parkinsonism to explore early signs and symptoms of disease.
- Control subjects will include individuals without GBA1 mutations. Subjects with sporadic PD and healthy volunteers who do not have a family history of parkinsonism or Gaucher disease will be enrolled as control subjects.
- Healthy volunteers and control subjects with parkinsonism will be matched for age, gender and handedness for statistical purposes. When available, we would like to study unaffected siblings (without GBA1 mutations) of parkinsonian subjects. Sib-pair studies will especially be valuable to exclude both environmental and other genetic risk factors for the development of parkinsonian manifestations.
Key exclusion criteria (6 listed)
- with severe cognitive deficits impairing decision making at time of enrollment without an appointed surrogate decision maker.
- who are unable or it is medically unsafe to withdraw from their current medications, such as subjects on psychoactive medications. The subjects on medications that may affect CNS function may be included in the study only with an approval from the prescribing physician to discontinue their medications temporarily for the study.
- pregnant or nursing. All women of child bearing potential will undergo a pregnancy test.
- with a history of neurologic conditions such as stroke or any focal brain lesion that may result in parkinsonian manifestations, including subjects with deep brain stimulators
- cannot lie on his/her back for a prolonged period of time
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 15-0 H20 | Drug | Asymptomatic, Control, PD |
Primary outcome
Imaging techniques
Time frame: Ongoing
Imaging techniques will evaluate whether there are early changes in cerebral L-Dopa stores associated with glucocerebrosidase mutations in subjects with and without parkinsonism.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Sep 2026.
- Background: PubMed 8917744Neudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, Aghai E, Reches A, Bembi B, Zimran A. Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM. 1996 Sep;89(9):691-4. doi: 10.1093/qjmed/89.9.691.
- Background: PubMed 12809640Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E. Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab. 2003 Jun;79(2):104-9. doi: 10.1016/s1096-7192(03)00071-4.
- Background: PubMed 15234332Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, Wakefield LK, Morrison A, Lwin A, Colegial C, Allman JM, Schiffmann R. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab. 2004 Jul;82(3):192-207. doi: 10.1016/j.ymgme.2004.04.011.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. pending
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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. This study is not recruiting at the moment.
Ellen Sidransky, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
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 Parkinson Disease and Gaucher Disease, run by National Human Genome Research Institute (NHGRI) 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 3 inclusion and 6 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: finished, as of the sponsor's last update on 28 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Imaging techniques (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00302146, which also lists 3 linked publications.
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 28 Sep 2026; AzTrials last refreshed its copy on 7 Nov 2026.