Status:
ACTIVE_NOT_RECRUITING
Study for the Treatment for CLN7 Disease
Lead Sponsor:
Benjamin Greenberg
Conditions:
CLN7
Eligibility:
All Genders
1-18 years
Phase:
PHASE1
Brief Summary
This is a phase 1 open-label, single-administration of gene therapy agent AAV9/CLN7, administered intrathecally into the lumbar spinal cord region of pediatric patients with CLN7 Batten disease. This...
Eligibility Criteria
Inclusion
- 1-18 years of age
- Clinically symptomatic patients with diagnosis of CLN7 based upon molecular testing with homozygous or compound heterozygous and pathogenic mutations in MFSD8 gene with symptom onset before age 4
- Patients selected to be included in this study will have no more than moderate severity of the disease and will have to meet the following criteria; Not dependent on chronic invasive ventilatory support AND have either
- Expressive language sub test on Mullen and/or Vineland consistent with an age equivalent score of a 2 year 0 month old. This means they should have 20-50 words (all comprehensible) in their vocabulary and putting 2-3 words phrases in a sentence or,
- Patients can complete and obtain a score of 2-3 on GMFM sub domain E (Walking, Running \& jumping) item 67 (ie With 2 hands held can walk 10 steps forward)
- Written informed consent provided by participant/parent/guardian and willingness to participate and comply with all the study related visits and procedures. Assent provided by children 10 -17 years old based on their ability to understand the risks and possible benefits, and the activities expected of them as participants.
Exclusion
- Diagnosis of a second neurodegenerative disease or another genetic syndrome with a progressive course
- Hypersensitivity to any drugs used per procedural protocol
- Inability to tolerate anesthesia or study procedures
- Advanced stage disease defined by the use of chronic invasive ventilatory support (tracheostomy with ventilator dependence) and a non communicative status
- Concomitant illness that places patient at risk for gene transfer or gene transfer related procedures and immunosuppression
- Active, symptomatic viral infection (including but not limited to HIV or serology positive for Hepatitis B or C, or COVID-19) at the PI's discretion
- Bacterial infection requiring antibiotics within the 6 weeks prior to infusion
- New antiepileptic medications initiated within 90 days of infusion
- Status epilepticus within 30 days of infusion
- Generalized tonic-clonic seizure without returning to baseline within 24 hours of infusion
- Family is unwilling or unable to participate with required follow-up assessments
- Abnormal lab values that are clinically significant:
- Platelet count \< 100,000/mm3
- Abnormal absolute neutrophil count (ANC) of \< 1000/mm3
- Persistent leukopenia or leukocytosis (Total white blood cell count \< 3,000/mm or \> 15,000/mm respectively)
- Significant anemia (Hb \<10 g/dL)
- Abnormal prothrombin (PT) or partial thromboplastin time (PTT)
- Abnormal liver function tests (\>2 X ULN or \> 2 X the baseline value at time of dosing)
- Abnormal pancreatic enzymes (\>2 X ULN or \> 2 X the baseline value at time of dosing)
- Renal impairment defined as urinary protein concentration greater than or equal to 0.2 g/L on 2 consecutive tests
- Any other abnormal lab values that are clinically significant per PI's discretion
- If labs are abnormal, these can be rechecked during the screening period. If labs normalize with or without intervention, patient can be enrolled at the discretion of PI.
- Contraindications for intrathecal administration of the product via lumbar puncture, such as bleeding disorders or other medical conditions (e.g., spina bifida or clotting abnormalities)
- Contraindications for MRI scans (including but not limited to cardiac pacemaker, metal in the eye, aneurysm clip in the brain, etc.)
- History of or current chemotherapy, radiotherapy, or other immunosuppression therapy within 30 days preceding screening (corticosteroid treatment may be permitted at the discretion of the PI)
- Receipt of any other investigational agent within the previous 3 months
- Positive Beta hCG pregnancy test (females of child bearing potential will have a pregnancy test on Day -1)
- Any other medical condition that puts the subject at increased risk of adverse events related to the investigational product or study-related procedures.
Key Trial Info
Start Date :
May 4 2021
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
February 1 2029
Estimated Enrollment :
4 Patients enrolled
Trial Details
Trial ID
NCT04737460
Start Date
May 4 2021
End Date
February 1 2029
Last Update
December 31 2025
Active Locations (1)
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1
Children' Health
Dallas, Texas, United States, 75390