Genetics Disease: Clinical Studies Open for Enrollment
Eligibility
- Male or female < 18 years of age
- No other significant co-morbidity (independent neurological disease, seizures)
- Molecular confirmation of IOPD or LOPD
- Age at enrollment: 5 years or more for IOPD patients and 5-40 years for LOPD patients
- Not claustrophobic
- A negative urine drug screening test
- No current use of recreational drugs
- No significant alcohol history (> 7 glasses of alcohol per week)
- No participation in investigational drug study within the last 30 days
- No contraindication to MRI
- Inclusion/Exclusion Criteria: for matched healthy controls no history of drug or alcohol abuse or dependence, no history of head injury, no significant medical history of such as seizure disorder, diabetes, alcoholism, cardiac disease including coronary artery disease, drug addiction, respiratory problems, liver disease, renal disease, etc.
Enrollment Status: Actively enrolling
Principal Investigator
Davis Kronn, MD
Contact for Study Screening
Hsakho@nymc.edu
Eligibility
- Male or female younger than 18 years of age
- Patients will be eligible for inclusion if they meet the following criteria for PARDS: Acute onset of respiratory failure defined as requiring mechanical ventilation via an endotracheal tube in the past 72 hours, Oxygenation index greater than 4 or oxygen saturation index greater than 5 if an arterial gas or PaO2 is not obtained, Chest imaging consistent with a new infiltrate or acute parenchymal disease and Respiratory failure not fully explained by cardiac failure or fluid overload
- Corrected gestational age ≥ 42 weeks or ˂18 years
- At least 12 hours of hemodynamic stability defined as a mean blood pressure or systolic blood pressure above the 5th percentile for age, which may be achieved with the support of vasoactive medication, specifically milrinone at any dose, dopamine of ≤ 5mcg/kg/min, epinephrine of ≤ 0.05mcg/kg/min and norepinephrine of ≤ 0.05mcg/kg/min.
- Exclusion Criteria: for matched healthy controls; Greater than 72 hours since mechanical ventilation was initiated or since the onset of PARDS, Allogeneic bone marrow transplant within the last five years, Malignancy or other irreversible disease or condition for which six-month mortality is estimated to be greater than 50 percent, Severe chronic respiratory disease requiring home invasive or non-invasive ventilator support greater than CPAP 5cmH2O, History of a lung transplantation at any time and Neuromuscular disease that impairs ability to ventilate without assistance
Enrollment Status: Actively enrolling
Principal Investigator
Erin Rescoe, MD
Contact for Study Screening
Sere.Politano@wmchealth.org