Medical Genetics: Clinical Research Program

Genetics Disease: Clinical Studies Open for Enrollment

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

Davis Kronn, MD

Male or female, 22-85 years of age.
Documented history of symptomatic or asymptomatic paroxysmal or persistent AF. The duration of AF must have been > 30 seconds as documented by an external monitor or present on 12-lead ECG.
CHA2DS2-VASC score of 1-4 without prior stroke or TIA**
The participant is on a DOAC at the time of screening.
Inclusion/Exclusion Criteria: for matched healthy controls; Valvular or permanent atrial fibrillation, Current treatment with warfarin and unwilling or unable to take a DOAC.

Enrollment Status: Actively enrolling

Grant # UG3HL15065

Jason Jacobson, MD

Male or female at least18 years of age
Diagnosed with HIV and under active care by licensed USA healthcare provider
Receiving CAB+RPV LA injectable therapy monthly or every 2 months for at least 6 months but no longer than 18 months at study entry.
PWH will be eligible if documented pattern of sub-optimal adherence on prior oral ART in the 12 months prior to CAB+RPV LA injectable therapy initiation.
PWH who are virologically suppressed OR viremic (defined as viral load of HIV-1 RNA >200 copies/mL) at study entry.
Inclusion/Exclusion Criteria: for matched healthy controls; PWH who have maintained virological suppression and had no adherence challenges with prior oral ART and/or PWH who have previously received CAB+RPV LA therapy as part of a clinical trial.

Enrollment Status: Actively enrolling

Rebecca Glassman, MD

Male and female participants aged 18 to 65 with previously confirmed diagnosis of Fabry disease and a history of clinical symptoms of Fabry disease.
Participants may be receiving treatment with agalsidase alfa, agalsidase beta, or migalastat, or may be untreated.
Left ventricular hypertrophy.
Contraception for male or female participants: not pregnant or breastfeeding; no sperm donating for male participant.
Exclusion Criteria: for matched healthy controls; History of transient ischemic attack, stroke, myocardial infarction, heart failure, major cardiovascular surgery or kidney transplantation, History of seizures currently requiring treatment and Underlying medical condition that may cause or contribute to left ventricular hypertrophy.

Enrollment Status: Actively enrolling

Maryam Banikazemi, MD

Male or female, Aged at least 50 years old at time of initiation of regimen of interest (index date).
HIV-1 diagnosis
Currently or previously prescribed either DTG/3TC or BIC/FTC/TAF alone to manage HIV-1 infection, initiated after market approval of DTG/3TC in the participant´s respective country
Has at least 24 weeks of clinical data available after index date.
Upon initiation participants must have been on a stable ART regimen for ≥3 months and have <200 copies/mL HIV-1 RNA up to 180 days prior to their index date (if more than one viral load (VL) assessment is available within the assessment window, the last available VL should be utilized)
Exclusion Criteria
- HIV-2 diagnosis
- Previous treatment:
  - For BIC/FTC/TAF cohort participants, previous treatment with DTG+3TC or DTG/3TC
  - For DTG/3TC participants, previous treatment with BIC/FTC/TAF

Enrollment Status: Actively enrolling

Rebecca Glassman, MD