Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis

NCT01399047 | Completed Phase 2 Results DMC

• 1 other identifier: 3908
• Study Type: interventional
• Target: 19
• Locations: 1 country
• Sites: 1

Brief 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).

Conditions

Juvenile Neuronal Ceroid Lipofuscinosis

Keywords

Batten Disease

Outcome Measures

Primary Outcomes (1)

• Tolerability - Number of Participants Who Completed Each Arm on Assigned Study Drug Dose

  The primary outcome measure is tolerability, defined as the completion of 8 weeks on the assigned dosage of study drug.

  Baseline to 8 weeks

Secondary Outcomes (4)

• Unified Batten Disease Rating Scale Physical Subscale Change

  Baseline to 8 weeks

• Unified Batten Disease Rating Scale Seizure Subscale Change

  Baseline to 8 weeks

• Unified Batten Disease Rating Scale Behavior Subscale Change

  Baseline to 8 weeks

• Unified Batten Disease Rating Scale Capability Subscale Change

  Baseline to 8 weeks

Study Arms (2)

Mycophenolate Mofetil

ACTIVE COMPARATOR

Drug: Mycophenolate mofetil

Placebo liquid

PLACEBO COMPARATOR

Drug: Liquid Placebo

Interventions

Mycophenolate mofetil DRUG

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.

Also known as: Cellcept

Mycophenolate Mofetil

Liquid Placebo DRUG

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.

Placebo liquid

Eligibility Criteria

• Age: 6 Years - 25 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Rochester: lead
• Batten Disease Support and Research Assocation (BDSRA): collaborator

Study Sites (1)

University of Rochester

Rochester, New York, 14642, United States

Location

Related Publications (2)

• Adams HR, Defendorf S, Vierhile A, Mink JW, Marshall FJ, Augustine EF. A novel, hybrid, single- and multi-site clinical trial design for CLN3 disease, an ultra-rare lysosomal storage disorder. Clin Trials. 2019 Oct;16(5):555-560. doi: 10.1177/1740774519855715. Epub 2019 Jun 11.

  PMID: 31184505 DERIVED

• Augustine EF, Adams HR, Mink JW. Clinical trials in rare disease: challenges and opportunities. J Child Neurol. 2013 Sep;28(9):1142-50. doi: 10.1177/0883073813495959.

  PMID: 24014509 DERIVED

MeSH Terms

Conditions

Neuronal Ceroid-Lipofuscinoses

Interventions

Mycophenolic Acid

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Caproates; Acids, Acyclic; Carboxylic Acids; Organic Chemicals; Fatty Acids; Lipids

Results Point of Contact

• Title: Erika Augustine, MD, MS
• Organization: University of Rochester Medical Center

erika_augustine@urmc.rochester.edu

585-275-2808

Study Officials

• Erika F Augustine, MD

  University of Rochester

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: PI

Study Record Dates

• First Submitted: July 5, 2011
• First Posted: July 21, 2011
• Study Start: July 1, 2011
• Primary Completion: November 1, 2015
• Study Completion: November 1, 2015
• Last Updated: May 21, 2019
• Results First Posted: January 23, 2017

Record last verified: 2019-05

Locations

US (1)