Trial Outcomes & Findings for Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome (NCT NCT01108068)

Last Updated: 2019-11-04

Results Overview

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.

Recruitment status

COMPLETED

Study phase

Target enrollment

26 participants

Primary outcome timeframe

Baseline

Results posted on

2019-11-04

Participant Flow

Participants were recruited from patients with OPPG being treated by Dr Streeten and their unaffected family members

Participant milestones

Participant milestones
Measure	Lithium 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.	Unaffected Controls Family members of patients with OPPG will have DXA and pQCT to compare to OPPG patients. These unaffected participants will not receive lithium.
Overall Study STARTED	10	16
Overall Study COMPLETED	4	16
Overall Study NOT COMPLETED	6	0

Reasons for withdrawal

Reasons for withdrawal
Measure	Lithium 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.	Unaffected Controls Family members of patients with OPPG will have DXA and pQCT to compare to OPPG patients. These unaffected participants will not receive lithium.
Overall Study 5 not started, 1 stop due to side effect	6	0

Baseline Characteristics

Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Lithium n=10 Participants 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.	Unaffected Controls n=16 Participants Family members of patients with OPPG will have DXA and pQCT to compare to OPPG patients. These unaffected participants will not receive lithium.	Total n=26 Participants Total of all reporting groups
Age, Categorical <=18 years	7 Participants n=5 Participants	8 Participants n=7 Participants	15 Participants n=5 Participants
Age, Categorical Between 18 and 65 years	3 Participants n=5 Participants	8 Participants n=7 Participants	11 Participants n=5 Participants
Age, Categorical >=65 years	0 Participants n=5 Participants	0 Participants n=7 Participants	0 Participants n=5 Participants
Age, Continuous	13.4 years STANDARD_DEVIATION 2.5 • n=5 Participants	21.8 years STANDARD_DEVIATION 16.5 • n=7 Participants	18.8 years STANDARD_DEVIATION 14.1 • n=5 Participants
Sex: Female, Male Female	4 Participants n=5 Participants	11 Participants n=7 Participants	15 Participants n=5 Participants
Sex: Female, Male Male	6 Participants n=5 Participants	5 Participants n=7 Participants	11 Participants n=5 Participants
Race/Ethnicity, Customized Causasian	10 Participants n=5 Participants	16 Participants n=7 Participants	26 Participants n=5 Participants
Region of Enrollment United States	10 participants n=5 Participants	16 participants n=7 Participants	26 participants n=5 Participants

PRIMARY outcome

Timeframe: Baseline

Population: 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

Outcome measures

Outcome measures
Measure	Lithium n=10 Participants 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.	Unaffected Controls n=16 Participants Family members of patients with OPPG will have DXA and pQCT to compare to OPPG patients. These unaffected participants will not receive lithium.
pQCT of Lower Leg Cortical Area Z-score	-2.19 Z-score Interval -3.0 to -0.14	0.04 Z-score Interval -0.51 to 0.95
pQCT of Lower Leg Periosteal circum. Z	-2.09 Z-score Interval -3.8 to 0.0	-0.30 Z-score Interval -2.35 to 1.17

SECONDARY outcome

Timeframe: baseline, 6 months

Population: 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

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

Outcome measures

Outcome measures
Measure	Lithium n=2 Participants 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.	Unaffected Controls Family members of patients with OPPG will have DXA and pQCT to compare to OPPG patients. These unaffected participants will not receive lithium.
pQCT Z-score in OPPG Participants at Baseline and 6 Months After Lithium Baseline Z-score SM	-4.96 Z-score Standard Deviation 0.12	—
pQCT Z-score in OPPG Participants at Baseline and 6 Months After Lithium 6 mo Z-score SM	-4.93 Z-score Standard Deviation 0.64	—

Adverse Events

Lithium

Serious events: 0 serious events

Other events: 1 other events

Deaths: 0 deaths

Unaffected Controls

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Other adverse events
Measure	Lithium n=10 participants at risk 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.	Unaffected Controls n=16 participants at risk Family members of patients with OPPG will have DXA and pQCT to compare to OPPG patients. These unaffected participants will not receive lithium.
Hepatobiliary disorders elevated liver function test	10.0% 1/10 • Number of events 1 • 6 months, during the administration of lithium to 5 participants 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.	0.00% 0/16 • 6 months, during the administration of lithium to 5 participants 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.

Additional Information

Elizabeth Streeten, MD

University of Maryland School of Medicine

Phone: 410-328-3335

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place