Protocol Number: 76-HG-0238

Title:

Diagnosis and Treatment of Patients with Inborn Errors of Metabolism

Number:

76-HG-0238

Summary:

Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience.

Patients participating in this study will be examined and treated on an out patient basis, if practical. However, patients requiring specialized tests or treatments will be admitted to the NIH Clinical Center as necessary. Researchers will use only accepted medical procedures in diagnosing (medical history, physical examinations, X-ray studies, eye examinations, blood tests, and urine tests) and treating the patients involved in this study. Additional tests may be required on a case to case basis.

Many patients seen in this study will go on to be enrolled in a specific disease-related research study.

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): None

Eligibility Criteria:

INCLUSION AND EXCLUSION CRITERIA:

Patients enrolled in this protocol will have been referred with a known or suspected inborn error of metabolism.

The principal investigator, along with consulting specialists, will review the medical records of prospective subjects and offer admission based upon the potential to help the individual, to learn from the patient, or to initiate clinical or basic research suggested by the patient's workup.

Some subjects will be relatives of patients with known diagnoses, and their specimens will be obtained for the purpose of heterozygote testing.

All subjects shall be admitted as inpatients or outpatients at the discretion of the principal investigator, based upon particular research interests and expertise.

We will not admit patients under one month of age to this protocol.

Patients under one year of age will be admitted only if they are in good health and require admission to the Clinical Center for confirmation of a presumptive diagnosis based upon family history.

Normal adult volunteers will be enrolled to provide control blood and urine specimens.

Special Instructions:

Discuss eligibility with contact person. Complete medical records will be required.

Keywords:

Dietary Therapy

Biochemical Defects

Enzyme Defects

Transport

Rare Diseases

Varied Disorders

Screening

Relatives

Recruitment Keyword(s):

None

Condition(s):

Metabolism

Investigational Drug(s):

None

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):

Biochemical phenotyping of a single sibship with both cystinosis and Fabry disease

Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome

Long-term ocular manifestations in nephropathic cystinosis

• 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.

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