Genetic and Metabolic Disease in Children
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1+
SponsorUniversity of Texas Southwestern Medical Center
About this trial
This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while establishing a specific focus on disorders where molecular characterization is most likely to lead to novel therapies. This study will merge detailed phenotypic characterization of patients presenting to the Pediatric Genetics and Metabolism Division in the Department of Pediatrics/Children's Medical Center at Dallas and collaborating clinics with Next-Generation sequencing techniques to identify disease-producing mutations. The primary objective of the study is to identify novel pathogenic mutations in children with rare Mendelian disorders. A secondary objective of the study is to establish normative ranges of a large number of metabolites from healthy newborns and older children.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Subjects aged 1-2 days
Subjects with gestational age 37-42 weeks
Subjects with stable clinical status (admitted to normal newborn nursery)
Confirmed metabolic or genetic diseases
Disqualifiers
Subjects with gestational age <37 weeks or >42 weeks
Subjects with overt signs of metabolic dysfunction, distress or genetic diseases including hypoglycemia, hyperglycemia, sepsis/shock, hypoxemia, or major congenital malformation
Subjects with mothers whose pregnancies were complicated by gestational diabetes, gestational hyperglycemia, gestational hypertension, preeclampsia, or any other major disorders.
Subjects with confirmed metabolic or genetic diseases
Trial population
Two populations will be enrolled in this study, control and diseased. Healthy newborns and older children will be recruited into the control population from Parkland Postpartum units and Children's Medical Center (CMC), respectively. The diseased population will be recruited from the clinics of the Pediatric Genetics and Metabolism Division in the Department of Pediatrics of CMC.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Skin Biopsy
Procedure/SurgerySkin biopsy will only be performed on the proband children in the cohort 3. A small piece of skin (less than 1/8'') will be removed using a local anesthetic cream and a punch, which will then be used for culture of skin cells and other laboratory tests on metabolic function.
Treatment groups
1,550 Participants
are divided into 3 treatment groupsGroup A: Cohort 1-Newborns aged 1-2 days0 interventions
Group B: Cohort 2-Children aged 0-18 years0 interventions
Group C: Cohort 3-Diseased childrens and families1 intervention
Trial outcomes
Primary outcomes
1
Perform metabolomic profiling and exome sequencing in children with presumed genetic and metabolic diseases
The Levels of the metabolites that can be detected in the plasma from the enrolled children will be measured by mass-spectrometry technique.The DNA samples will be extracted from the blood samples of diseased children and then subjected to exome sequencing to identify gene mutations.
Time frame
3-4 yearsSecondary outcomes
1
Perform metabolomic profiling in healthy children
The Levels of the metabolites will be measured by by mass-spectrometry technique in the plasma samples from enrolled healthy children.
Time frame
3-4 yearsOther outcomes
1
Establish a specimen repository of healthy and diseased children
Blood samples and derived plasma and DNA samples, and patient fibroblast cell lines will be de-identified and stored in research laboratory.
Time frame
3 yearsSponsors and contacts
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Source ClinicalTrials.gov