Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
Emily de los Reyes
Age
Any age
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible if
Confirmation of pathogenic mutation S295L in the SLC6A1 gene
Ability to cooperate and complete assessments per determination of the physician and therapists
You may not be if
Serological evidence of HIV infection, or Hepatitis B or C infection
Diagnosis of (or ongoing treatment) for an autoimmune disease
Presence of a medical condition or extenuating circumstance that, in the opinion of the Sponsor-Investigator, might compromise the participant's ability to comply with the protocol required testing or procedures or compromise the participant's wellbeing, safety, or clinical interpretability
Persistent leukopenia or leukocytosis (WBC ≤ 3.5 K/µL or ≥20.0 K/µL) or an absolute neutrophil count \< 1.5K/µL
Concomitant illness or requirement for chronic drug treatment that in the opinion of the Sponsor-Investigator creates unnecessary risks for gene transfer
AAV9 binding antibody titers \> 1:400 as determined by ELISA immunoassay
Contraindications for intrathecal injection procedure (e.g. spina bifida, meningitis, or clotting abnormalities)
Abnormal laboratory values in the clinically significant range upon normal values in the Nationwide Children's Hospital Laboratory. (GGT \> 78 U/L, Bilirubin ≥ 3.0 mg/dL , Creatinine ≥ 1.8 mg/dL, Hgb \< 8 or \> 18 g/dL; WBC \> 15,000 cells per mL)
Family does not want to disclose participant's study participation with primary care physician and other medical providers.
Bleeding disorder or any other medical conditions or circumstances in which intrathecal (IT) administration of the product or lumbar puncture (for collection of CSF) are contradicted according to local institutional policy
Two consecutive aminotransaminase liver tests \>3 times the upper limit of normal) at screening
Contraindications for MRI scans (e.g., cardiac pacemaker, metal fragment or chip in the eye, aneurysm clip in the brain
