Pediatric Patients With Metabolic or Other Genetic Disorders

Study Overview
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Brief Summary
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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.

Detailed Description
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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 subjects may 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 of subjects evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may also be enrolled.

Official Title
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Evaluation of Patients With Genetic Disorders

Conditions
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Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome, Developmental Delay

Participation Criteria
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Eligibility Criteria
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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
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Family members<br>Family members (adult and pediatric; affected and unaffected) may be enrolled for the purpose of determining the molecular lesion(s) responsible for genetic disorders. | |
| Genetic disorders<br>subjects with genetic disorders | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Recruit Patients with Suspected or diagnosed genetic diseases | observational/exploratory suspected or diagnosed genetic diseases | Ongoing | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Genetics, Metabolic, Dysmorphic Syndromes, Developmental Delay, Genetic Counseling, Natural History