Ignite Creation Date:
2024-05-05 @ 11:24 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00025870
Status:
COMPLETED
Last Update Posted:
2019-11-04
First Post:
2001-10-27
Brief Title:
Studies of Children With Metabolic and Other Genetic Disorders
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Studies of Pediatric Patients With Metabolic or Other Genetic Disorders
Status:
COMPLETED
Status Verified Date:
2016-06-23
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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 andor 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 18-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
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 andor 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 18-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
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 andor adult onset congenital anomalies andor 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 geneticmetabolic-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 andor family members with genetic disorders may offer their DNA for storage andor 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 02-CH-0023 | None | None | None |