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Trial record 5 of 25 for:    Child | "congenital neuronal ceroid lipofuscinosis" OR "Neuronal Ceroid-Lipofuscinoses"

Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis (JUMP)

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ClinicalTrials.gov Identifier: NCT01399047
Recruitment Status : Completed
First Posted : July 21, 2011
Results First Posted : January 23, 2017
Last Update Posted : January 23, 2017
Sponsor:
Collaborator:
Batten Disease Support and Research Assocation (BDSRA)
Information provided by (Responsible Party):
Erika Augustine, University of Rochester

Study Type Interventional
Study Design Allocation: Randomized;   Intervention Model: Crossover Assignment;   Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor);   Primary Purpose: Treatment
Condition Juvenile Neuronal Ceroid Lipofuscinosis
Interventions Drug: Mycophenolate mofetil
Drug: Liquid Placebo
Enrollment 19

Recruitment Details  
Pre-assignment Details  
Arm/Group Title Group A: Mycophenolate to Placebo Crossover Group B: Placebo to Mycophenolate Crossover
Hide Arm/Group Description Subjects received one treatment period (8 weeks) of mycophenolate, then, after a 4-week washout, received one treatment period (8 weeks) of placebo, in a blinded manner. Subjects received one treatment period (8 weeks) of placebo, then, after a 4-week washout, received one treatment period (8 weeks) of mycophenolate, in a blinded manner.
Period Title: Overall Study
Started 10 9
Completed 10 8
Not Completed 0 1
Reason Not Completed
Withdrawal by Subject             0             1
Arm/Group Title Group A: Mycophenolate to Placebo Crossover Group B: Placebo to Mycophenolate Crossover Total
Hide Arm/Group Description Subjects received one treatment period (8 weeks) of mycophenolate, then, after a 4-week washout, received one treatment period (8 weeks) of placebo, in a blinded manner. Subjects received one treatment period (8 weeks) of placebo, then, after a 4-week washout, received one treatment period (8 weeks) of mycophenolate, in a blinded manner. Total of all reporting groups
Overall Number of Baseline Participants 10 9 19
Hide Baseline Analysis Population Description
[Not Specified]
Age, Continuous  
Mean (Standard Deviation)
Unit of measure:  Years
Number Analyzed 10 participants 9 participants 19 participants
10.50  (5.99) 14.78  (2.44) 12.53  (5.04)
Gender  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 10 participants 9 participants 19 participants
Female
2
  20.0%
2
  22.2%
4
  21.1%
Male
8
  80.0%
7
  77.8%
15
  78.9%
Race/Ethnicity, Customized  
Measure Type: Count of Participants
Unit of measure:  Participants
Race Number Analyzed 10 participants 9 participants 19 participants
White/Caucasian
9
  90.0%
8
  88.9%
17
  89.5%
More than one Race
1
  10.0%
1
  11.1%
2
  10.5%
Region of Enrollment  
Measure Type: Number
Unit of measure:  Participants
United States Number Analyzed 10 participants 9 participants 19 participants
10 9 19
1.Primary Outcome
Title Tolerability
Hide Description The primary outcome measure is tolerability, defined as the completion of 8 weeks on the assigned dosage of study drug.
Time Frame 8 weeks
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title Mycophenolate Placebo
Hide Arm/Group Description:
Includes data from all subjects while on mycophenolate, regardless of treatment order.
Includes data from all subjects while on placebo, regardless of treatment order.
Overall Number of Participants Analyzed 19 19
Measure Type: Count of Participants
Unit of Measure: Participants
17
  89.5%
19
 100.0%
Show Statistical Analysis 1 Hide Statistical Analysis 1
Statistical Analysis Overview Comparison Group Selection Mycophenolate, Placebo
Comments The primary outcome variable was tolerability, defined as the proportion of subjects able to complete 8 weeks on the assigned treatment. Tolerability was compared among the treatment groups using Prescott's test. A 95% confidence interval was computed for the tolerability of mycophenolate, placebo, and their difference.
Type of Statistical Test Superiority or Other
Comments [Not Specified]
Statistical Test of Hypothesis P-Value 0.21
Comments [Not Specified]
Method Prescott's test
Comments [Not Specified]
Method of Estimation Estimation Parameter Risk Difference (RD)
Estimated Value 0.105
Confidence Interval (2-Sided) 95%
-0.033 to 0.243
Estimation Comments Mycophenolate was tolerated in 17/19 subjects (89.5%, 95% CI: 66.9% - 98.7%), while placebo was tolerated in 19/19 subjects (100%, 95% CI: 82.4% - 100%). The difference in tolerability rates was 10.5% (95% CI: -3.3% - 24.3%, p=0.21).
2.Secondary Outcome
Title Preliminary Evidence of Efficacy
Hide Description To gather preliminary evidence of the short-term (8 week) impact of mycophenolate mofetil on clinically relevant features of Juvenile Neuronal Ceroid Lipofuscinosis as measured by the Unified Batten Disease Rating Scale, including motor features, seizures, behavior, cognitive and functional measures.
Time Frame 8 week
Outcome Measure Data Not Reported
3.Secondary Outcome
Title Feasibility of Clinical Trials in Rare Disorder
Hide Description To pilot the feasibility of conducting controlled clinical trials of this rare neurological disorder base on collaboration between a national center of excellence in the disease (URBC), and children's local care-providers (pediatricians and/or local neurologists.
Time Frame [Not Specified]
Outcome Measure Data Not Reported
Time Frame [Not Specified]
Adverse Event Reporting Description Reporting of adverse events were sought at each encounter and were considered in the evaluation of each safety assessment (laboratory studies, electrophysiology).
 
Arm/Group Title Mycophenolate Placebo
Hide Arm/Group Description Includes data from all subjects while on mycophenolate, regardless of order. Includes data from all subjects while on placebo, regardless of order.
All-Cause Mortality
Mycophenolate Placebo
Affected / at Risk (%) Affected / at Risk (%)
Total   --/--      --/--    
Show Serious Adverse Events Hide Serious Adverse Events
Mycophenolate Placebo
Affected / at Risk (%) # Events Affected / at Risk (%) # Events
Total   1/19 (5.26%)      0/19 (0.00%)    
Metabolism and nutrition disorders     
Hyperkalemia  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Indicates events were collected by systematic assessment
1
Term from vocabulary, MedDRA
Show Other (Not Including Serious) Adverse Events Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 0%
Mycophenolate Placebo
Affected / at Risk (%) # Events Affected / at Risk (%) # Events
Total   14/19 (73.68%)      17/19 (89.47%)    
Cardiac disorders     
ECG Abnormality  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Ear and labyrinth disorders     
Haemotympanum  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Ear pain  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Endocrine disorders     
Weight decreased  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Eye disorders     
Photophobia  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Gastrointestinal disorders     
Vomiting  1  6/19 (31.58%)  8 2/19 (10.53%)  3
Diarrhea  1  3/19 (15.79%)  3 2/19 (10.53%)  2
Abdominal pain upper  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Gastroesophageal reflux disease  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Retching  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Abdominal Discomfort  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Abdominal Pain  1  0/19 (0.00%)  0 1/19 (5.26%)  1
General disorders     
Oedema peripheral  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Chest pain  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Fatigue  1  1/19 (5.26%)  1 1/19 (5.26%)  1
Infections and infestations     
Otitis media  1  1/19 (5.26%)  1 1/19 (5.26%)  1
Strep pharyngitis  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Sinusitis  1  1/19 (5.26%)  1 1/19 (5.26%)  1
Upper Respiratory Infection  1  2/19 (10.53%)  2 0/19 (0.00%)  0
Conjunctivitis  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Gingivitis  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Ear Infection  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Otitis externa  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Investigations     
Blood prolactin increased  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Weight increased  1  2/19 (10.53%)  2 1/19 (5.26%)  1
Blood calcium decreased  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Cardiac murmur  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Electrocardiogram abnormality  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Electrocardiogram T wave inversion  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Protein urine present  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Metabolism and nutrition disorders     
Decreased appetite  1  0/19 (0.00%)  0 2/19 (10.53%)  2
Hypoglycemia  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Musculoskeletal and connective tissue disorders     
Arthralgia  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Muscle Stiffness  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Muscle twitching  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Back pain  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Musculoskeletal pain  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Pain in extremity  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Nervous system disorders     
Headache  1  3/19 (15.79%)  3 3/19 (15.79%)  3
Tremor  1  2/19 (10.53%)  2 0/19 (0.00%)  0
Dyskinesia  1  1/19 (5.26%)  1 1/19 (5.26%)  1
Insomnia  1  1/19 (5.26%)  1 1/19 (5.26%)  1
Aphasia  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Convulsion  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Disorientation  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Dysarthria  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Motor dysfunction  1  0/19 (0.00%)  0 2/19 (10.53%)  2
Movement disorder  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Seizure  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Speech disorder  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Dizziness  1  1/19 (5.26%)  1 1/19 (5.26%)  1
Ataxia  1  2/19 (10.53%)  2 0/19 (0.00%)  0
Psychiatric disorders     
Abnormal behavior  1  1/19 (5.26%)  1 1/19 (5.26%)  1
Mental status changes  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Mood altered  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Aggression  1  0/19 (0.00%)  0 2/19 (10.53%)  2
Anger  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Anxiety  1  0/19 (0.00%)  0 2/19 (10.53%)  2
Confusional state  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Irritability  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Nightmare  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Perseveration  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Renal and urinary disorders     
Haematuria  1  1/19 (5.26%)  1 0/19 (0.00%)  0
Urinary incontinence  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Respiratory, thoracic and mediastinal disorders     
Cough  1  3/19 (15.79%)  3 1/19 (5.26%)  1
Oropharyngeal pain  1  1/19 (5.26%)  1 2/19 (10.53%)  2
Rhinorrhea  1  0/19 (0.00%)  0 1/19 (5.26%)  1
Indicates events were collected by systematic assessment
1
Term from vocabulary, MedDRA
Certain Agreements
All Principal Investigators ARE employed by the organization sponsoring the study.
Results Point of Contact
Name/Title: Erika Augustine, MD, MS
Organization: University of Rochester Medical Center
Phone: 585-275-2808
Responsible Party: Erika Augustine, University of Rochester
ClinicalTrials.gov Identifier: NCT01399047     History of Changes
Other Study ID Numbers: 3908
First Submitted: July 5, 2011
First Posted: July 21, 2011
Results First Submitted: November 28, 2016
Results First Posted: January 23, 2017
Last Update Posted: January 23, 2017