Protocol Details

Functional Imaging in Subjects with Glucocerebrosidase Mutations

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	06-HG-0055
Sponsoring Institute	National Human Genome Research Institute (NHGRI)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 21 Max Age: N/A
Referral Letter Required	No
Population Exclusion(s)	Children
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

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.

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Eligibility

INCLUSION CRITERIA:

The study will include adult subjects age 21 or older carrying GBA mutations. The two major study groups will include subjects with parkinsonism and unaffected subjedcts yet at risk with a first degree family member with parkinsonism.

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.

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

EXCLUSION CRITERIA:

The subjects excluded from the study are those:

1. with severe cognitive deficits impairing decision making

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

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

4. With a history of neurologic conditions such as stroke or any focal brain lesion that may result in parkinsonian manifestations. Individuals with such MRI findings will be excluded from the study.

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Citations:

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.

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Contacts:

Principal Investigator	Referral Contact	For more information http://clinicalstudies.info.nih.gov.
Grisel J. Lopez, M.D. National Heart, Lung and Blood Institute (NHLBI) National Institutes of Health Building 10 Room 5-5140 10 Center Drive Bethesda, Maryland 20892 (301) 451-8497 gkato@cc.nih.gov	Catherine A. Groden, C.R.N.P. National Heart, Lung and Blood Institute (NHLBI) National Institutes of Health Building 10 Room 5-5140 10 Center Drive Bethesda, Maryland 20892 (301) 435-2345 jnichols@mail.nih.gov	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 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00302146

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