Glut1 Deficiency Syndrome 1Rare diseaseHealthy volunteersChildren's healthDevice
What this study is
The goal is to develop methodology to monitor flux in the citric acid cycle in brain via 13C nuclear magnetic resonance (NMR) spectroscopy at 7 Tesla or 3 Tesla.
What's being tested
- Magnetic resonance imaging
Intervention · DEVICE
Medical imaging technique used in radiology to form pictures of the anatomy.
Study details
- Sponsor
- Weill Medical College of Cornell University
- Conditions
- Glut1 Deficiency Syndrome 1 · Glucose Metabolism Disorders · Epilepsy · Glut1 Deficiency Syndrome 1, Autosomal Recessive · Glucose Transporter Type 1 Deficiency Syndrome · Glucose Transporter Protein Type 1 Deficiency Syndrome · Glucose Transport Defect
- Enrolling
- 20 people
- Starts
- 2022-05-03
- Est. completion
- 2029-08-01
- Record
- View on ClinicalTrials.gov ↗
Who can join
Age 16 Years – 80 YearsSex ALLHealthy volunteers AcceptedYou may qualify if
- Subjects will be adolescents or adults, age 16-80 years in good general health (evidenced by normal vital signs and no acute signs or symptoms of illness) or with previously (not for this study) documented G1D (genetically confirmed).
- Ages 16 to 80
- Persons with dental fillings, dental crowns, and short (max.4 cm) dental retainer wires can be included.
You can't join if
- People or patients with uncontrolled seizure disorder, defined as grand mal (not absence) seizure in the preceding 3 months.
- Pregnant females will be excluded. A serum or urine pregnancy test will be administered to all females of child bearing potential within 24 hours of administration of the tracer and MRI scan. The pregnancy test will be communicated in person by the study PI. Positive results in subjects 17 years old or younger will be disclosed to parent/guardian only.
- Subjects with typical implanted orthopedic metal in bone may be considered for inclusion in a 7T scan providing the implant is not within the volume of the radio frequency coil. The PI and the AIRC Medical Director will discuss each case and determine eligibility.
- Persons with ICD, pacemakers, neurostimulators and other such devices will be excluded.
- Persons with claustrophobia are excluded.
- Persons with questionable ferrous implants, bullets, BB's, and shrapnel will be excluded.
- Subjects who are not fluent in English will be excluded because immediate cooperation and the ability to respond to instructions from the investigators are necessary.
- People following a ketogenic diet
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
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1
Study locations (2)
1 openWeill Cornell Medicine
New York, New York, United States
- Rocio Moron Ares, B.S. · Contact212 746 3278rrm4007@med.cornell.edu
- Juan M Pascual, M.D · Contact212 746 3278jup9003@med.cornell.edu
RecruitingUT Southwestern Medical Center
Dallas, Texas, United States
Terminated
Study team
Sponsor
Weill Medical College of Cornell University
Study ID 24-08027788
Have questions? The contacts above can answer them before you apply.
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.