Clinical trials: Neonatal Screening
Pain
Caring for Babies During the Newborn Screening Blood Test
Newborn infants have blood work procedures in their first days of life that cause pain, distress and physiological changes. Breastfeeding (BF), skin to skin care (SSC), or giving sweet solutions (sucrose or glucose) has been…
- Trial name
- NCT02608892
- Testing
- BSweet2Babies video
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Eastern Ontario
Metabolism, Inborn Errors, Hearing Loss
North Carolina Newborn Exome Sequencing for Universal Screening
The NC NEXUS research study is exploring the utility of next generation sequencing in newborn screening and parental decision making.
- Conditions
- Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
- Trial name
- NC_NEXUS (NCT02826694)
- Testing
- Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
- Where
- United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Long QT Syndrome
KCNQ1 Cascade Screening
The objectives of the protocol are to: (1) evaluate the uptake of cascade screening and preventative therapies after the implementation of a simplified screening process and (2) assess proband and family member perspectives about…
- Trial name
- NCT03783975
- Testing
- Simplified Cascade Screening
- Where
- United States
- Volunteers
- 131 people, healthy volunteers welcome
- Sponsor
- University of Maryland, Baltimore
Lynch Syndrome
Overcoming Barriers to the Uptake of Cascade Screening for Lynch Syndrome: Workbook Feasibility Study
The investigators will evaluate the feasibility of an intervention to improve Lynch syndrome cascade screening uptake. The investigators will conduct a pilot study among 15 patients diagnosed with Lynch Syndrome and 5 genetic…
- Trial name
- NCT04978350
- Testing
- Educational Workbook
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- UNC Lineberger Comprehensive Cancer Center
Down Syndrome
An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
The investigators conducted a national two-arm, randomized controlled trial of caregivers of individuals with DS to assess the efficacy of DSC2U in assuring adherence to evidence-based guidelines.
- Trial name
- DSC2U (NCT04227197)
- Testing
- Down Syndrome Clinic to You (DSC2U)
- Where
- United States
- Volunteers
- 281 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Atopic Dermatitis, Ichthyosis Vulgaris
Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris.
- Trial name
- NCT01016106
- Testing
- Buccal Swab
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Northwestern University
Neonatal Screening
The Effect of Electronic Informed Consent Information (EICI) on Residual Newborn Specimen Research
Obtaining adequate informed consent from potential research participants is a significant challenge for biobank-dependent research.
- Trial name
- EICI (NCT03141307)
- Testing
- EICI Movie, EICI App, Control
- Where
- United States
- Volunteers
- 711 people, healthy volunteers welcome
- Sponsor
- University of Utah
Fetal Growth Retardation, Fetal; Slow Growth
Third Trimester Screening of Fetal Growth Restriction
The aim of this trial is to assess the efficacy of two screening protocols for the detection of fetal growth disorders. In Italy at the moment the screening protocol should not be universal but only on clinical indications.
- Trial name
- RELAIS (NCT05787054)
- Testing
- Third trimester ultrasound
- Where
- Italy
- Volunteers
- 813 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS