Studies of Children With Metabolic and Other Genetic Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2014 by National Institutes of Health Clinical Center (CC)
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: October 27, 2001
Last updated: May 15, 2014
Last verified: May 2014

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.

Genetic Disorder
Metabolic Disease

Study Type: Observational
Official Title: Studies of Pediatric Patients With Metabolic or Other Genetic Disorders

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 2500
Study Start Date: October 2001
Detailed Description:

The aim of this protocol is to provide care for patients with a variety of rare genetic disorders, supplement and offer an additional opportunity for training in clinical genetics, dysmorphology and metabolic genetics in the National Institute of Child Health and Human Development (NICHD) and other Institutes of the National Institutes of Health (NIH), and spearhead the development of new research protocols on particular aspects of diagnosis and care for specific genetic diseases. Evaluations of patients with a broad spectrum of metabolic and genetic conditions will be performed. In addition, genetic counseling services will be offered to patients and their families to assess risk, and give information on preventive measures, and testing options. Disorders that will be studied include chromosomal and Mendelian disorders of childhood and/or adult onset, congenital anomalies and/or birth defects, dysmorphic syndromes, familial cancer syndromes, multifactorial disorders, and metabolic abnormalities. If not eligible for another NICHD research protocol (specific for a disease or a treatment), patients with genetic/metabolic-related conditions may be evaluated under the auspices of this protocol to advance the clinical skills of physicians participating in NICHD clinical research and training programs, and to provide stimuli for new clinical research initiatives. Standard, medically indicated laboratory or radiological studies may be performed to confirm a diagnosis or to aid in the management of the patient. In some cases, the patient will receive medical or surgical treatment for their disorder, according to current clinical practice. Patients and/or family members with genetic disorders may offer their DNA for storage and/or testing. The overall purpose of this protocol is to support our Institute s training and research missions by expanding the spectrum of diseases that can be seen in our clinics and wards.


Ages Eligible for Study:   up to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
  • 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.


  • 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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00025870

Contact: Margarita J Raygada, Ph.D. (301) 451-8822

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
Principal Investigator: Margarita J Raygada, Ph.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  More Information

Additional Information:
No publications provided Identifier: NCT00025870     History of Changes
Other Study ID Numbers: 020023, 02-CH-0023
Study First Received: October 27, 2001
Last Updated: May 15, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
DNA Testing
Dysmorphic Syndromes
Developmental Delay
Genetic Counseling
Molecular Genetics

Additional relevant MeSH terms:
Genetic Diseases, Inborn
Metabolic Diseases
Pathologic Processes processed this record on October 23, 2014