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Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome

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ClinicalTrials.gov Identifier: NCT01108068
Recruitment Status : Completed
First Posted : April 21, 2010
Results First Posted : April 27, 2018
Last Update Posted : April 27, 2018
Sponsor:
Information provided by (Responsible Party):
Elizabeth Streeten, University of Maryland

Study Type Interventional
Study Design Allocation: Non-Randomized;   Intervention Model: Single Group Assignment;   Masking: None (Open Label);   Primary Purpose: Treatment
Condition Osteoporosis Pseudoglioma
Intervention Drug: Lithium
Enrollment 26

Recruitment Details Participants were recruited from patients with OPPG being treated by Dr Streeten and their unaffected family members
Pre-assignment Details  
Arm/Group Title Lithium Unaffected Controls
Hide Arm/Group Description

patients with OPPG will be treated with lithium for 6 months

Lithium: lithium will be given for 6 months to patients with OPPG, starting at a low dose of 2.5 mg/kg daily, gradually increasing until a lithium blood level of 0.3-0.6 ng/dl is achieved.

Family members of patients with OPPG will have DXA and pQCT to compare to OPPG patients. These unaffected participants will not receive lithium.
Period Title: Overall Study
Started 10 16
Completed 4 [1] 16
Not Completed 6 0
Reason Not Completed
5 not started, 1 stop due to side effect             6             0
[1]
Only 5 individuals were recruited into the Lithium treatment arm
Arm/Group Title Lithium Unaffected Controls Total
Hide Arm/Group Description

patients with OPPG will be treated with lithium for 6 months

Lithium: lithium will be given for 6 months to patients with OPPG, starting at a low dose of 2.5 mg/kg daily, gradually increasing until a lithium blood level of 0.3-0.6 ng/dl is achieved.

Family members of patients with OPPG will have DXA and pQCT to compare to OPPG patients. These unaffected participants will not receive lithium. Total of all reporting groups
Overall Number of Baseline Participants 10 16 26
Hide Baseline Analysis Population Description
All participants were from the Old Order Mennonite community from PA
Age, Categorical  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 10 participants 16 participants 26 participants
<=18 years
7
  70.0%
8
  50.0%
15
  57.7%
Between 18 and 65 years
3
  30.0%
8
  50.0%
11
  42.3%
>=65 years
0
   0.0%
0
   0.0%
0
   0.0%
Age, Continuous  
Mean (Standard Deviation)
Unit of measure:  Years
Number Analyzed 10 participants 16 participants 26 participants
13.4  (2.5) 21.8  (16.5) 18.8  (14.1)
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 10 participants 16 participants 26 participants
Female
4
  40.0%
11
  68.8%
15
  57.7%
Male
6
  60.0%
5
  31.3%
11
  42.3%
Race/Ethnicity, Customized  
Measure Type: Count of Participants
Unit of measure:  Participants
Causasian Number Analyzed 10 participants 16 participants 26 participants
10
 100.0%
16
 100.0%
26
 100.0%
Region of Enrollment  
Measure Type: Number
Unit of measure:  Participants
United States Number Analyzed 10 participants 16 participants 26 participants
10 16 26
1.Primary Outcome
Title pQCT of Lower Leg
Hide Description pQCT will be done at baseline for all OPPG participants and unaffecteds. The Z-score indicates the number of standard deviations away from the mean of age matched controls. A Z-score of 0 is equal to the mean, with negative numbers indicating values lower than the mean and positive values higher. A positive change in Z-score indicates a favorable outcome.
Time Frame Baseline
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
in OPPG, 2 were too small for pQCT machine and 2 had hardware in legs. For 2 in unaffecteds there were technical difficulties with the pQCT scanner
Arm/Group Title Lithium Unaffected Controls
Hide Arm/Group Description:

patients with OPPG will be treated with lithium for 6 months

Lithium: lithium will be given for 6 months to patients with OPPG, starting at a low dose of 2.5 mg/kg daily, gradually increasing until a lithium blood level of 0.3-0.6 ng/dl is achieved.

Family members of patients with OPPG will have DXA and pQCT to compare to OPPG patients. These unaffected participants will not receive lithium.
Overall Number of Participants Analyzed 10 16
Mean (95% Confidence Interval)
Unit of Measure: Z-score
Cortical Area Z-score Number Analyzed 6 participants 14 participants
-2.19
(-3.0 to -0.14)
0.04
(-0.51 to 0.95)
Periosteal circum. Z Number Analyzed 10 participants 16 participants
-2.09
(-3.8 to 0)
-0.30
(-2.35 to 1.17)
Show Statistical Analysis 1 Hide Statistical Analysis 1
Statistical Analysis Overview Comparison Group Selection Lithium, Unaffected Controls
Comments Cortical area Z-score
Type of Statistical Test Equivalence
Comments Continuous variables were expressed as means ± SD or median (range). Group differences in pQCT Z-scores according to genotype T-test was used to compare differences at baseline between affecteds and unaffecteds
Statistical Test of Hypothesis P-Value 0.0003
Comments [Not Specified]
Method t-test, 1 sided
Comments Differences in the two groups were assessed using Student's t-test or the rank-sum test if skewed.
Show Statistical Analysis 2 Hide Statistical Analysis 2
Statistical Analysis Overview Comparison Group Selection Lithium, Unaffected Controls
Comments Periosteal circumference Z-score
Type of Statistical Test Equivalence
Comments Continuous variables were expressed as means ± SD or median (range). Group differences in pQCT Z-scores according to genotype
Statistical Test of Hypothesis P-Value 0.001
Comments [Not Specified]
Method t-test, 1 sided
Comments Differences in the two groups were assessed using Student's t-test or the rank-sum test if skewed.
2.Secondary Outcome
Title pQCT Z-score in OPPG Participants at Baseline and 6 Months After Lithium
Hide Description The Z-score indicates the number of standard deviations away from the mean of age matched controls. A Z-score of 0 is equal to the mean, with negative numbers indicating values lower than the mean and positive values higher. A positive change in Z-score indicates a favorable outcome.Z-score of pQCT variable was noted for the in two OPPG participants who received lithium and were also able to get pQCT scans. The "n" of 2 was too small to do statistical analyses. Of the 5 OPPG who were on lithium, 2 were too small for the machine (eventhough over age 4) and 1 had rods in his legs and couldn't have pQCT
Time Frame baseline, 6 months
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
Two OPPG participants who took lithium for 6 months and were able to do pQCT at baseline and 6 months. First number is baseline, 2nd number is 6 months for section modulus
Arm/Group Title OPPG Rx With Lithium
Hide Arm/Group Description:
Two participants who were treated with lithium and had pQCT done
Overall Number of Participants Analyzed 2
Mean (Standard Deviation)
Unit of Measure: Z-score
Baseline Z-score SM -4.96  (0.12)
6 mo Z-score SM -4.93  (0.64)
Time Frame 6 months, during the administration of lithium to 5 participants
Adverse Event Reporting Description Two of the participants in the lithium trial also have a severe autistic phenotype. We had hoped that the Lithium might improve their behavior. However, in one of theses 2 participants, his behavior worsened (confirmed by the Vanderbilt standardized behavioral questionnaire and he had to drop out of the study. After stopping Lithium, his behavior promptly returned to his baseline.
 
Arm/Group Title Lithium Unaffected Controls
Hide Arm/Group Description

patients with OPPG will be treated with lithium for 6 months

Lithium: lithium will be given for 6 months to patients with OPPG, starting at a low dose of 2.5 mg/kg daily, gradually increasing until a lithium blood level of 0.3-0.6 ng/dl is achieved.

Family members of patients with OPPG will have DXA and pQCT to compare to OPPG patients. These unaffected participants will not receive lithium.
All-Cause Mortality
Lithium Unaffected Controls
Affected / at Risk (%) Affected / at Risk (%)
Total   0/10 (0.00%)      0/16 (0.00%)    
Show Serious Adverse Events Hide Serious Adverse Events
Lithium Unaffected Controls
Affected / at Risk (%) # Events Affected / at Risk (%) # Events
Total   0/10 (0.00%)      0/16 (0.00%)    
Show Other (Not Including Serious) Adverse Events Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 5%
Lithium Unaffected Controls
Affected / at Risk (%) # Events Affected / at Risk (%) # Events
Total   1/10 (10.00%)      0/16 (0.00%)    
Hepatobiliary disorders     
elevated liver function test  [1]  1/10 (10.00%)  1 0/16 (0.00%)  0
Indicates events were collected by systematic assessment
[1]
One participant who took Lithium had an elevated ALT level, present in the past prior to entry into the study and remained minimally elevated through the study. It was not felt to be related to lithium
Certain Agreements
Principal Investigators are NOT employed by the organization sponsoring the study.
There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.
Results Point of Contact
Name/Title: Elizabeth Streeten, MD
Organization: University of Maryland School of Medicine
Phone: 410-328-3335
Responsible Party: Elizabeth Streeten, University of Maryland
ClinicalTrials.gov Identifier: NCT01108068     History of Changes
Other Study ID Numbers: HP-00040536
First Submitted: April 20, 2010
First Posted: April 21, 2010
Results First Submitted: April 21, 2017
Results First Posted: April 27, 2018
Last Update Posted: April 27, 2018