Protocol Details

Evaluation of Patients with Genetic Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	16-CH-0103
Sponsoring Institute	National Institute of Child Health and Human Development (NICHD)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 Years Max Age: 99 Years
Referral Letter Required	No
Population Exclusion(s)	None
Keywords	Genetics; Metabolic; Dysmorphic Syndromes; Developmental Delay; Genetic Counseling; Natural History
Recruitment Keyword(s)	None
Condition(s)	Genetic Disorder; Asperger Disorder; Autism Spectrum Disorder; Fragile X Syndrome; Developmental Delay
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Institute of Child Health and Human Development

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.

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Eligibility

INCLUSION CRITERIA:

-Subjects of any age with known or suspected genetic disorder

-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

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Citations:

Not Provided

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Contacts:

Principal Investigator	Referral Contact	For more information:
John R. Perreault, C.R.N.P. National Institute of Child Health and Human Development (NICHD) NIHBC 10 - CLINICAL CENTER BG RM 8N248C 10 CENTER DR BETHESDA MD 20892 (301) 827-9235 john.perreault@nih.gov	John R. Perreault, C.R.N.P. National Institute of Child Health and Human Development (NICHD) NIHBC 10 - CLINICAL CENTER BG RM 8N248C 10 CENTER DR BETHESDA MD 20892 (301) 827-9235 john.perreault@nih.gov	Office of Patient Recruitment National Institutes of Health Clinical Center (CC) Building 61, 10 Cloister Court Bethesda, Maryland 20892 Toll Free: 1-800-411-1222 Local Phone: 301-451-4383 TTY: TTY Users Dial 7-1-1 ccopr@nih.gov

Clinical Trials Number:

NCT02769949

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