Clinical Research Study Viewer

Batten CLN-6 Gene Therapy Trial

Study Details

Principal Investigator

Jerry Mendell, MD, Nationwide Children's Hospital

Study Title and Phase

Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscionosis, Delivering the CLN6 Gene by Self-Complementary AAV9, Phase I/IIa

Study Duration

2 years (14 visits, including one pre-screening visit prior to treatment)

Inclusion Criteria

  • Diagnosis of CLN6 disease determined by genotype available at screening
  • A score of ≥3 on the quantitative clinical assessment of the Hamburg motor-language aggregate score at screening on CLN2 disease motor-language scale, as defined in the Ratings Assessment Guideline
  • Age ≥ 1
  • Must be able to walk or walk with assistance

Exclusion Criteria

  • Presence of another inherited neurologic disease, e.g., other forms of CLN or seizures unrelated to CLN6 disease (patients with febrile seizures may be eligible)
  • Presence of another neurological illness that may have caused cognitive decline (e.g., trauma, meningitis, hemorrhage) before screening
  • Active viral infection (includes HIV or serology positive for hepatitis B or C)
  • Has received stem cell or bone marrow transplantation for CLN6 disease
  • Contraindications for spinal tap procedure (e.g. spina bifida, meningitis, impairment, or clotting abnormalities)
  • Contraindications for MRI scans (e.g., cardiac pacemaker, metal fragment or chip in the eye, aneurysm clip in the brain)
  • Episode of generalized motor status epilepticus within 4 weeks before the First Dose visit
  • Severe infection (e.g., pneumonia, pyelonephritis, or meningitis) within 4 weeks before the First Dose visit (enrollment may be postponed)
  • Has received any investigational medication within 30 days before the first infusion of study drug
  • Patients with Anti-AAV9 antibody titers > 1:50 as determined by ELISA binding immunoassay.
  • Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject’s ability to comply with the protocol required testing or procedures or compromise the subject’s wellbeing, safety, or clinical interpretability
  • Pregnancy any time during the study; pregnancy test will be given to females of childbearing age
  • Abnormal laboratory values considered clinically significant (GGT > 3XULN, Bilirubin ≥ 3.0 mg/dL , Creatinine ≥ 1.8 mg/dL, Hgb < 8 or > 18 g/Dl; WBC > 15,000 per cmm)
  • Family does not want to disclose patient's study participation with primary care physician and other medical providers.
  • Those with bleeding disorders 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.
  • History of or current chemotherapy, radiotherapy or other immunosuppression therapy within the past 30 days. Corticosteroid treatment may be permitted at the discretion of the PI.
  • Patients with two consecutive abnormal liver tests (>2 times the upper limit of normal). Liver enzymes will be re-tested once if abnormal upon initial screening.

Coordinator Contact Information

Alana Mahley

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Nationwide Children's Hospital
700 Children's Drive Columbus, Ohio 43205 614.722.2000