Protocol Details

Studies of Pediatric Patients with Metabolic or Other Genetic Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	02-CH-0023
Sponsoring Institute	National Institute of Child Health and Human Development (NICHD)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: N/A Max Age: 18
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Genetics; Metabolic; Dysmorphology; Training; DNA; DNA Testing; Dysmorphic Syndromes; Developmental Delay; Genetic Counseling; Molecular Genetics
Recruitment Keyword(s)	None
Condition(s)	Genetic Disorder; Metabolic Disease
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Institute of Child Health and Human Development

This study will provide medical evaluations for patients with known or suspected metabolic and genetic disorders. It will allow NICHD investigators and trainees experience in diagnosing, managing, and treating patients with metabolic and genetic disorders who may not be eligible for an active NIH research trial. Participants in this protocol will only have tests and procedures used in the standard practice of medicine; there will be no experimental tests or treatments. Patients who are found eligible for an active research protocol will be offered participation in that study. The medical evaluations in this trial may uncover new disease processes that prompt new research initiatives.

People of all ages with a suspected or diagnosed genetic or metabolic condition may be eligible for this study. In addition, children with unexplained developmental delay, deafness, dysmorphism, congenital malformations, acidosis, failure to thrive, feeding problems, short stature, birth defects, and other syndromes of unknown cause may qualify.

Participants will have a medical history, including a family history, with possible review of previous medical records, and a physical examination. Other procedures may include:

- Consultation with medical specialists.

- Hearing and/or vision tests.

- Imaging studies, such as X-rays, ultrasound and magnetic resonance imaging (MRI).

- Blood drawing - Blood samples (2 to 4 tablespoons from adults and 1 to 2 tablespoons from children) may be used for routine lab tests, genetic study, and other research purposes.

- Cheek swab - DNA may be obtained by a cheek swab. A small brush is rubbed against the inside of the cheek to collect some cells.

- Skin biopsy - Under local anesthetic, a small circle of skin (about 1/8-inch) is removed with a sharp cutting instrument similar to a cookie cutter.

- Muscle biopsy - Under local anesthetic, a small piece of muscle tissue is removed to aid in diagnosis.

Participants will undergo only diagnostic procedures that are clinically indicated; that is, only tests needed to confirm or rule out a diagnosis will be done. Tissue samples collected for diagnostic purposes may also be used to obtain DNA for genetic studies and to establish cell lines (cells grown in the laboratory to be maintained indefinitely) for future research.

The results of the medical evaluation may indicate whether or not the participant has the disease that runs in the family (if a genetic disorder is indeed confirmed). Unless he or she requests otherwise, the subject (and parent in the case of a minor) will receive counseling regarding the test results. The implications of a positive test result will be explained, specifically, the participant's risk of having the disease, and the risk of passing the condition on to offspring.

--Back to Top--

Eligibility

INCLUSION CRITERIA:

-Patients with suspected or diagnosed genetic and/or metabolic conditions of all ages are eligible for this protocol.

-In addition, children with unexplained developmental delay, deafness, dysmorphism, congenital malformations, acidosis, failure to thrive, feeding problems, short stature, birth defects, and other syndromes of sporadic or unknown etiology will qualify for this protocol.

-The actual selection of patients most appropriate for research and clinical training needs will be made by protocol investigators.

EXCLUSION CRITERIA:

-Patients that their care requires resources not available at the NIH Clinical Center will not be eligible for the in-patient part of this study.

-There are no exclusions for the out-patient or DNA collection part of the study.

--Back to Top--

Citations:

Not Provided

--Back to Top--

Contacts:

Principal Investigator	Referral Contact	For more information http://clinicalstudies.info.nih.gov.
Margarita Raygada, Ph.D. National Institutes of Health Clinical Center (CC) National Institutes of Health Building 10 Room 2C145 10 Center Drive Bethesda, Maryland 20892 (301) 496-9320 msolomon@cc.nih.gov	Margarita Raygada, Ph.D. National Institutes of Health Clinical Center (CC) National Institutes of Health Building 10 Room 2C145 10 Center Drive Bethesda, Maryland 20892 (301) 496-9320 ggraninger@cc.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:

NCT00025870

--Back to Top--

QUESTIONS?

Contact the Patient Recruitment and Public Liaison Office for:

• Details on how to participate in a study
• Details on how to refer a patient to a study

NIH Clinical Studies Information Request

---

Contact the Office of Communications for:

• General information about the NIH Clinical Center

www.cc.nih.gov/contact.shtml

---

Contact the Department Clinical Research Informatics, (DCRI) for:

• Technical questions about Adobe Acrobat and the PDF format
• Technical questions about this web server

webmaster@cc.nih.gov