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
- 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
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
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.
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.
- 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.
- 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.