Medical Genetics: Clinical Studies Open For Enrollment
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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
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Eligibility
- 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
Study Information
ClinicalTrials.gov | NCT05280548
Principal Investigator
Maryam Banikazemi, MD
Contact for Study Screening
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Eligibility
Participants selection is based on the inclusion and exclusion criteria below. Participants who meet each of the inclusion criteria and none of the exclusion criteria are eligible to participate in the PASS.
- The participant has confirmed diagnosis of Pompe disease (confirmation of diagnosis is defined as documents GAA enzyme deficiency from any tissue source and/or documentation of 2 GAA gene mutations).
- The participant is treated with Avalglucosidase alfa before enrollment or planning to start treatment with Avalglucosidase alfa upon enrollment, regardless of prior experience with other ERTs.
- The participant and/or the participants’ parent/legal guardian is willing and able to provide signed informed consent, and willing to be followed-up for up to five years after enrollment.
- Exclusion Criteria:
- The participant received an investigational drug within five half-lives after the most recent dose prior to signing an ICF.
- The participant plans to take any investigational product after signing the ICF.
Enrollment Status: Actively enrolling
Study Information
EUPAS107472
Principal Investigator
M. Valerie Marrero-Stein, CPNP
Contact for Study Screening