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 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