NIH Clinical Research Studies

Protocol Number: 86-M-0096

Active Accrual, Protocols Recruiting New Patients

Title:
Studies of Genetic Heterogeneity in Patients with Lysosomal Storage Disorders
Number:
86-M-0096
Summary:
The purpose of this study is to identify genetic, biochemical, and clinical factors that are associated with disease severity in people with Gaucher disease and other lysosomal storage disorders.

There is a vast spectrum of clinical manifestations in people with Gaucher disease as well as other lysosomal storage disorders. This study will evaluate patients with lysosomal disorders on an outpatient or inpatient basis in order to better characterize the clinical, genetic, and pathophysiological features of these disorders. Participants will be re-evaluated on an annual basis.

Sponsoring Institute:
National Institute of Mental Health (NIMH)
Recruitment Detail
Type: Active Accrual Of New Subjects
Gender: Male & Female
Referral Letter Required: No
Population Exclusion(s): None

Eligibility Criteria:
INCLUSION CRITERIA:

Patients with known or suspected lysosomal storage disorders will be admitted for study.

Special Instructions: Currently Not Provided
Keywords:
Lysosomal Storage Disorders
Variants
Chemical Phenotype
Proteins
Genes
Phenotype
Mutations
Parkinsonism
Recruitment Keywords:
None
Conditions:
Gaucher's Disease
Lysosomal Storage Disease
Investigational Drug(s):
None
Investigational Device(s):
None

Contacts:
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

Citations:
DNA mutational analysis of type 1 and type 3 Gaucher patients: How well do mutations predict phenotype?

Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene

Epidermal abnormalities resulting from severe glucocerebrosidase deficiency man aid in the early diagnosis of type 2 Gaucher disease

Active Accrual, Protocols Recruiting New Patients

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