Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis
Condition: Juvenile Neuronal Ceroid Lipofuscinosis
MeSH terms: Neuronal Ceroid-Lipofuscinoses
Intervention: Mycophenolate mofetil; Liquid Placebo
Intervention description: 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.
Intervention MeSH terms: Mycophenolic Acid
Phase: Phase 2
Study type: Interventional
Primary purpose: Treatment
Allocation: Randomized
Intervention model: Crossover Assignment
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Enrollment: 19.0
Sex: All
Minimum age: 6 Years
Maximum age: 25 Years
Healthy volunteers: No
Keywords: Batten Disease

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).
    

Eligibility criteria:

        Inclusion Criteria:

          -  JNCL as determined by a characteristic clinical presentation and confirmatory genetic
             evidence.

          -  Able to walk 10 feet without assistance beyond that required due to vision impairment.

          -  Subjects with local treating clinician (pediatrician or neurologist) willing to
             conduct the trial according to the protocol, good clinical practice, and applicable
             regulations.

          -  Subjects with a parent/legal guardian willing to accompany them to all study visits,
             oversee study drug compliance, and monitor and report to local treating
             clinician/investigator and the URBC investigative personnel any signs of adversity.

        Exclusion Criteria:

          -  Inability to tolerate oral administration of medications

          -  Concomitant medical condition, which, in the opinion of the local treating clinician,
             the parent(s)/guardian, or the URBC study investigator would place the child at
             greater than acceptable risk from: 1) travel by plane or car to the URBC on four
             occasions over the course of 22 weeks, 2) exposure to mycophenolate mofetil at
             protocol defined dosages for periods up to 8 weeks.

          -  Anticipated inability of the child (on the part of the investigator, parent/guardian,
             or URBC study personnel) to comply with the rigors of the protocol..

          -  Use of disallowed concomitant medications.

          -  Administration of immunosuppressive medications

          -  History of any prior exposure to mycophenolate mofetil

          -  History of hypersensitivity to mycophenolate mofetil, or any other component of the
             product

          -  History of frank gastrointestinal hemorrhage, ulceration, or melena

          -  White blood cell count < 3000/μL, absolute neutrophil count (ANC) < 1500/μL,
             hemoglobin < 10g/dL, or thrombocytopenia <100,000/μL.

          -  Abnormal liver function (aspartate aminotransferase (AST) or alanine aminotransferase
             (ALT) or bilirubin greater than 3 times the upper limit of normal)

          -  Pregnancy or vulnerability to engage in sexual intercourse based on report of the
             parent/guardian, judgment of the local treating clinician/investigator or judgment of
             the URBC study personnel.

          -  Positive Tuberculosis test

          -  Immunizations not up to date for age according to Centers for Disease Control
             guidelines