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Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations

NCT00302146 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 64

Last updated 2026-05-22

No results posted yet for this study

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. 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.

Conditions

Interventions

DRUG

15-0 H20

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Ellen Sidransky, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
18 Years
Max Age
110 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2006-05-23
FDA Drug
Yes

Countries

  • United States

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00302146 on ClinicalTrials.gov