Pediatric Patients With Metabolic or Other Genetic Disorders
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications, Neurology, Psychiatric, Women's Studies, Autism |
| Therapuetic Areas: | Neurology, Psychiatry / Psychology, Other, Reproductive |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/5/2019 |
| Start Date: | May 11, 2016 |
| End Date: | December 31, 2036 |
| Contact: | John R Perreault, C.R.N.P. |
| Email: | john.perreault@nih.gov |
| Phone: | (301) 827-9235 |
Evaluation of Patients With Genetic Disorders
Background: Some patients with unusual genetic conditions are referred to the National
Institutes of Health (NIH). They may not be eligible to join current research studies.
Testing such patients is a good way to improve the skills of research staff. The findings
could lead to new processes and research.
Objectives:
To recruit a diverse group of pediatric subjects with genetic disorders. To give clinic staff
hands-on experience working with these patients.
Eligibility:
Children any age with a known or suspected genetic disorder.
Design:
Participants will be screened with medical history and physical exam. They may have lab and
other tests.
Family members may give DNA samples.
Participants will have:
Medical history
Physical exam
Height, weight, and other measurements taken.
A clinical evaluation of their disorder.
They may have:
Blood, urine, and saliva samples taken
Imaging tests. These may include x-rays, scans, ultrasound, or skeletal survey.
A sleep study
A visit with other specialists at NIH
A genetic test from a commercial lab
Medical photographs taken
Other tests
Participants may have follow-up visits. They may get medical or surgical treatment.
Institutes of Health (NIH). They may not be eligible to join current research studies.
Testing such patients is a good way to improve the skills of research staff. The findings
could lead to new processes and research.
Objectives:
To recruit a diverse group of pediatric subjects with genetic disorders. To give clinic staff
hands-on experience working with these patients.
Eligibility:
Children any age with a known or suspected genetic disorder.
Design:
Participants will be screened with medical history and physical exam. They may have lab and
other tests.
Family members may give DNA samples.
Participants will have:
Medical history
Physical exam
Height, weight, and other measurements taken.
A clinical evaluation of their disorder.
They may have:
Blood, urine, and saliva samples taken
Imaging tests. These may include x-rays, scans, ultrasound, or skeletal survey.
A sleep study
A visit with other specialists at NIH
A genetic test from a commercial lab
Medical photographs taken
Other tests
Participants may have follow-up visits. They may get medical or surgical treatment.
The aim of this protocol is to allow genetic-related evaluations for patients with a variety
of known or suspected 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). If not eligible for a specific NICHD research protocol, patients with
genetic-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 subjectsmay receive
medical or surgical treatment for their disorder at the NIH CC according to current clinical
practice. The overall purpose of genetic evaluations under this protocol is to support our
clinical training and research missions. Family members ofsubjects evaluated on this protocol
(who have informative meiotic inheritance relationships to the proband or index case) may
also be enrolled.
of known or suspected 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). If not eligible for a specific NICHD research protocol, patients with
genetic-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 subjectsmay receive
medical or surgical treatment for their disorder at the NIH CC according to current clinical
practice. The overall purpose of genetic evaluations under this protocol is to support our
clinical training and research missions. Family members ofsubjects evaluated on this protocol
(who have informative meiotic inheritance relationships to the proband or index case) may
also be enrolled.
- INCLUSION CRITERIA:
- Subjects of any age with known or suspected genetic disorder
- Subjects determined by a study investigator to be appropriate for clinical training
- Subject engaged in care with a community-based healthcare provider
- For relatives of subjects with a genetic disorder:
- Subject is a family member of the proband
EXCLUSION CRITERIA:
-Presence of a medical, psychiatric, or social condition which, in the opinion of the
investigator, would place undue burden on the subject, NIH resources, or increase risk of
participation
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
301-496-2563
Phone: 800-411-1222
National Institutes of Health Clinical Center The National Institutes of Health (NIH) Clinical Center in...
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