Protocol Number: 06-HG-0055

Title:

Functional Imaging in Subjects with Glucocerebrosidase Mutations

Number:

06-HG-0055

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.

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): Children

Eligibility Criteria:

INCLUSION CRITERIA:

The study will include adult subjects age 21 or older with Gaucher disease with and without parkinsonism and individuals from families with a Gaucher proband and a history of parkinsonism.

Controls will include unaffected siblings of patients with Gaucher disease and subjects with sporadic PD, without glucocerebrosidase mutations, and healthy volunteers who do not have a family history of parkinsonism or Gaucher disease.

Volunteers will be matched for age, gender and handedness for statistical purposes.

EXCLUSION CRITERIA:

The subjects excluded from the study are those:

-with severe cognitive deficits impairing decision making

-unable or medically unsafe to withdraw from their current medications, such as subjects on SSRIs and other psychoactive drugs.

-pregnant or nursing. All women of child bearing potential will undergo a pregnancy test.

Special Instructions:

Currently Not Provided

Keywords:

Lysosomal Storage Disorder

Carrier

L-Dopa Uptake

Glucocerebrosidase

Pathogenesis

Carbidopa

Gaucher Disease

Parkinson Disease

[O-15]-Water

6-[F-18]Fluoro-L-dopa

Recruitment Keyword(s):

Lysosomal Storage Disorder

Gaucher Disease

Carrier

Healthy Volunteer

HV

Condition(s):

Glucocerebrosidase Mutations

Gaucher disease

Investigational Drug(s):

15-0 H20

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Human Genome Research Institute

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

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.

Tayebi 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.

Wong 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.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home

National Institutes of Health Clinical Center Bethesda, Maryland 20892. Last update: 09/16/2008