Batten CLN6 Gene Therapy

• Status: Recruiting
• Trial end date: 0000-00-00
• Target enrollment: 6
• Participant gender: Both

Summary

The proposed clinical trial is the first human, open-label, single dose study of self-complementary AAV9 carrying the CLN6 gene delivered one-time intrathecally inserted by a lumbar puncture into Batten CLN6 Disease subjects. One cohort of patients with Batten CLN6 Disease, with confirmed diagnosis, will undergo gene transfer. A minimum of six patients will be enrolled into the cohort.

• Phase: Phase 1/Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Nationwide Children's Hospital
• Collaborator: Gray Foundation
• Last Updated: 2016-05-24

Criteria

Inclusion Criteria:

• Diagnosis of CLN6 disease determined by genotype available at sScreening

• 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 year

• Written informed consent from parent or legal guardian and assent from subject, if appropriate.

• Ability to comply with protocol required assessments (laboratory sample collection, EEG, ECG, MRI, etc.

Exclusion Criteria:

• Another inherited neurologic disease, e.g., other forms of CLN or seizures unrelated to CLN2 disease (patients with febrile seizures may be eligible)

• Another neurological illness that may have caused cognitive decline (e.g., trauma, meningitis, hemorrhage) before screening

• Active viral infection

• 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 ≥ 1:1600 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; a female subject judged by the investigator to be of childbearing potential will be tested for pregnancy

• 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)