Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis
Condition: Juvenile Neuronal Ceroid Lipofuscinosis
MeSH terms: Neuronal Ceroid-Lipofuscinoses
Study type: Interventional
Phase: Phase 2

Summary: 
      The primary objective of this trial is to establish the safety and tolerability of short-term
      (8 weeks) administration of mycophenolate mofetil in ambulatory children with JNCL. The
      secondary objective is to gather preliminary evidence of the short-term (8 week) impact of
      mycophenolate mofetil on clinically relevant features of JNCL as measured by the Unified
      Batten Disease Rating Scale (UBDRS), including motor features, seizures, behavior, cognitive
      and functional measures.

      Funding source-FDA Office of Orphan Product Development (OOPD).
    

Detailed description: 
      Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a fatal disorder. Currently treatment is
      symptomatic. Thus, there is a real need to intervene and slow the progression of this
      disease. Preliminary data on genetic knock-down of the ability to mount an immune response in
      cln3-knockout mice is supportive of a strategy for treating JNCL with an immuno-suppressive
      agent. Many drugs with the ability to suppress the immune system are steroidal and deemed
      unsuitable for long-term administration to children. Mycophenolate mofetil (CellCept) is used
      as an immunosuppressive agent in allogenic transplants in pediatric patients and is therefore
      approved by the Food and Drug Administration (FDA) for pediatric use.

      The study design is a double-blind, randomized, 22-week cross-over study of mycophenolate
      mofetil vs. placebo. After a 4-week washout period, subjects will undergo blinded crossover
      from active study drug to placebo or from placebo to active study drug.

      Subjects and caregivers will be evaluated in person in the University of Rochester Batten
      Center (URBC) at screening/baseline, and at weeks 8, 12, and 20. In addition, subjects will
      be evaluated by their local clinician who is a formalized member of the research team. Such
      contacts will occur at Weeks 2, 4, 14, 16, and any unscheduled or early termination visits.
      There will also be regular telephone contact between the URBC and the local clinician.

      We have selected the dosage currently FDA approved for use in children being treated for
      prophylaxis of renal transplant rejection.
    

Intervention name(s): Mycophenolate mofetil; Liquid Placebo
Intervention type(s): Drug; Drug
Intervention description(s): The liquid dosage will be individualized, contingent upon the subject's weight. Subjects will receive 50% of the target dose (300mg/m2/dose BID) during Week 0-Week 2, then increase to the full dose (600mg/m2/dose BID) in Week 3, continuing at this dose through Week 8. Additionally, due to the risk of gastrointestinal disturbance (hemorrhage, ulcer), children will also receive prophylactic Prilosec (Omeprazole) for the duration of the study, during both the mycophenolate and placebo arms.; The dosage will be individualized, contingent upon the subject's weight. Subjects will receive 50% of the target dose (300mg/m2/dose BID) during Week 0-Week 2, then increase to the full dose (600mg/m2/dose BID) in Week 3, continuing at this dose through Week 8. Additionally, due to the risk of gastrointestinal disturbance (hemorrhage, ulcer), children will also receive prophylactic Prilosec (omeprazole) for the duration of the study, during both the mycophenolate and placebo arms.
Other intervention name(s): Cellcept
Intervention MeSH terms: Mycophenolic Acid
Allocation: Randomized
Intervention model: Crossover Assignment
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Primary purpose: Treatment
Keywords: Batten Disease