Trial Outcomes & Findings for Copper Histidine Therapy for Menkes Diseases (NCT NCT00001262)
NCT ID: NCT00001262
Last Updated: 2015-10-30
Results Overview
This was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate gross motor development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age.
Recruitment status
COMPLETED
Study phase
PHASE1/PHASE2
Target enrollment
60 participants
Primary outcome timeframe
36 months or death
Results posted on
2015-10-30
Participant Flow
Participant milestones
| Measure |
Early
Classic Menkes disease: Copper histidine treatment beginning within 1 month of age
|
Late
Classic Menkes disease: Copper histidine treatment beginning after 1 month of age and after onset of symptoms
|
Mild
Milder variants of Menkes disease: Copper histidine treatment beginning late (L) and after onset of (milder) symptoms
|
|---|---|---|---|
|
Overall Study
STARTED
|
35
|
22
|
3
|
|
Overall Study
COMPLETED
|
25
|
8
|
3
|
|
Overall Study
NOT COMPLETED
|
10
|
14
|
0
|
Reasons for withdrawal
| Measure |
Early
Classic Menkes disease: Copper histidine treatment beginning within 1 month of age
|
Late
Classic Menkes disease: Copper histidine treatment beginning after 1 month of age and after onset of symptoms
|
Mild
Milder variants of Menkes disease: Copper histidine treatment beginning late (L) and after onset of (milder) symptoms
|
|---|---|---|---|
|
Overall Study
Death
|
10
|
11
|
0
|
|
Overall Study
Withdrawal by Subject
|
0
|
3
|
0
|
Baseline Characteristics
Copper Histidine Therapy for Menkes Diseases
Baseline characteristics by cohort
| Measure |
Early
n=35 Participants
Classic Menkes disease: Copper histidine treatment beginning within 1 month of age
|
Late
n=22 Participants
Classic Menkes disease: Copper histidine treatment beginning after 1 month of age and after onset of symptoms
|
Mild
n=3 Participants
Milder variants of Menkes disease: Copper histidine treatment beginning late (L) and after onset of (milder) symptoms
|
Total
n=60 Participants
Total of all reporting groups
|
|---|---|---|---|---|
|
Age, Categorical
<=18 years
|
35 Participants
n=39 Participants
|
22 Participants
n=41 Participants
|
3 Participants
n=35 Participants
|
60 Participants
n=31 Participants
|
|
Age, Categorical
Between 18 and 65 years
|
0 Participants
n=39 Participants
|
0 Participants
n=41 Participants
|
0 Participants
n=35 Participants
|
0 Participants
n=31 Participants
|
|
Age, Categorical
>=65 years
|
0 Participants
n=39 Participants
|
0 Participants
n=41 Participants
|
0 Participants
n=35 Participants
|
0 Participants
n=31 Participants
|
|
Sex: Female, Male
Female
|
1 Participants
n=39 Participants
|
0 Participants
n=41 Participants
|
0 Participants
n=35 Participants
|
1 Participants
n=31 Participants
|
|
Sex: Female, Male
Male
|
34 Participants
n=39 Participants
|
22 Participants
n=41 Participants
|
3 Participants
n=35 Participants
|
59 Participants
n=31 Participants
|
|
Ethnicity (NIH/OMB)
Hispanic or Latino
|
3 Participants
n=39 Participants
|
0 Participants
n=41 Participants
|
0 Participants
n=35 Participants
|
3 Participants
n=31 Participants
|
|
Ethnicity (NIH/OMB)
Not Hispanic or Latino
|
30 Participants
n=39 Participants
|
21 Participants
n=41 Participants
|
3 Participants
n=35 Participants
|
54 Participants
n=31 Participants
|
|
Ethnicity (NIH/OMB)
Unknown or Not Reported
|
2 Participants
n=39 Participants
|
1 Participants
n=41 Participants
|
0 Participants
n=35 Participants
|
3 Participants
n=31 Participants
|
|
Race (NIH/OMB)
American Indian or Alaska Native
|
0 Participants
n=39 Participants
|
0 Participants
n=41 Participants
|
0 Participants
n=35 Participants
|
0 Participants
n=31 Participants
|
|
Race (NIH/OMB)
Asian
|
0 Participants
n=39 Participants
|
1 Participants
n=41 Participants
|
0 Participants
n=35 Participants
|
1 Participants
n=31 Participants
|
|
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
|
0 Participants
n=39 Participants
|
0 Participants
n=41 Participants
|
0 Participants
n=35 Participants
|
0 Participants
n=31 Participants
|
|
Race (NIH/OMB)
Black or African American
|
9 Participants
n=39 Participants
|
1 Participants
n=41 Participants
|
0 Participants
n=35 Participants
|
10 Participants
n=31 Participants
|
|
Race (NIH/OMB)
White
|
22 Participants
n=39 Participants
|
19 Participants
n=41 Participants
|
3 Participants
n=35 Participants
|
44 Participants
n=31 Participants
|
|
Race (NIH/OMB)
More than one race
|
1 Participants
n=39 Participants
|
0 Participants
n=41 Participants
|
0 Participants
n=35 Participants
|
1 Participants
n=31 Participants
|
|
Race (NIH/OMB)
Unknown or Not Reported
|
3 Participants
n=39 Participants
|
1 Participants
n=41 Participants
|
0 Participants
n=35 Participants
|
4 Participants
n=31 Participants
|
PRIMARY outcome
Timeframe: 36 months or deathThis was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate gross motor development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age.
Outcome measures
| Measure |
Early
n=35 Participants
Classic Menkes disease: Copper histidine treatment beginning within 1 month of age
|
Late
n=22 Participants
Classic Menkes disease: Copper histidine treatment beginning after 1 month of age and after onset of symptoms
|
Mild
n=3 Participants
Milder variants of Menkes disease: Copper histidine treatment beginning late (L) and after onset of (milder) symptoms
|
|---|---|---|---|
|
Gross Motor Development at 36 Mos of Age or at Death (Mos)
|
13.743 Other - months
Standard Deviation 12.200
|
2.455 Other - months
Standard Deviation 2.154
|
15.667 Other - months
Standard Deviation 9.815
|
PRIMARY outcome
Timeframe: 36 months or deathThis was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate fine motor development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age.
Outcome measures
| Measure |
Early
n=35 Participants
Classic Menkes disease: Copper histidine treatment beginning within 1 month of age
|
Late
n=22 Participants
Classic Menkes disease: Copper histidine treatment beginning after 1 month of age and after onset of symptoms
|
Mild
n=3 Participants
Milder variants of Menkes disease: Copper histidine treatment beginning late (L) and after onset of (milder) symptoms
|
|---|---|---|---|
|
Fine Motor Adaptive Development at 36 Mos of Age or at Death (Mos)
|
16.200 Other - Months
Standard Deviation 12.762
|
2.409 Other - Months
Standard Deviation 1.652
|
17.667 Other - Months
Standard Deviation 13.204
|
PRIMARY outcome
Timeframe: 36 months or deathThis was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate personal-social development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age.
Outcome measures
| Measure |
Early
n=35 Participants
Classic Menkes disease: Copper histidine treatment beginning within 1 month of age
|
Late
n=22 Participants
Classic Menkes disease: Copper histidine treatment beginning after 1 month of age and after onset of symptoms
|
Mild
n=3 Participants
Milder variants of Menkes disease: Copper histidine treatment beginning late (L) and after onset of (milder) symptoms
|
|---|---|---|---|
|
Personal-Social Development at 36 Mos of Age or at Death (Mos)
|
17.657 Other - Months
Standard Deviation 13.482
|
3.364 Other - Months
Standard Deviation 3.499
|
17.667 Other - Months
Standard Deviation 15.308
|
PRIMARY outcome
Timeframe: 36 months or deathThis was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate language development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age.
Outcome measures
| Measure |
Early
n=35 Participants
Classic Menkes disease: Copper histidine treatment beginning within 1 month of age
|
Late
n=22 Participants
Classic Menkes disease: Copper histidine treatment beginning after 1 month of age and after onset of symptoms
|
Mild
n=3 Participants
Milder variants of Menkes disease: Copper histidine treatment beginning late (L) and after onset of (milder) symptoms
|
|---|---|---|---|
|
Language Development at 36 Mos of Age or at Death (Mos)
|
15.800 Other - Months
Standard Deviation 12.034
|
3.227 Other - Months
Standard Deviation 2.943
|
21.000 Other - Months
Standard Deviation 9.539
|
SECONDARY outcome
Timeframe: 36 months or deathOutcome measures
| Measure |
Early
n=35 Participants
Classic Menkes disease: Copper histidine treatment beginning within 1 month of age
|
Late
n=22 Participants
Classic Menkes disease: Copper histidine treatment beginning after 1 month of age and after onset of symptoms
|
Mild
n=3 Participants
Milder variants of Menkes disease: Copper histidine treatment beginning late (L) and after onset of (milder) symptoms
|
|---|---|---|---|
|
Somatic Growth Percentiles at 3 Years of Age (or at Age of Death) - Weight Percentile
|
12.086 Other - Percentile
Standard Deviation 19.589
|
11.273 Other - Percentile
Standard Deviation 17.097
|
5.000 Other - Percentile
Standard Deviation 8.660
|
SECONDARY outcome
Timeframe: 36 months or deathOutcome measures
| Measure |
Early
n=35 Participants
Classic Menkes disease: Copper histidine treatment beginning within 1 month of age
|
Late
n=22 Participants
Classic Menkes disease: Copper histidine treatment beginning after 1 month of age and after onset of symptoms
|
Mild
n=3 Participants
Milder variants of Menkes disease: Copper histidine treatment beginning late (L) and after onset of (milder) symptoms
|
|---|---|---|---|
|
Somatic Growth Percentiles at 3 Years of Age (or at Age of Death) - Length Percentile
|
8.286 Other - Percentile
Standard Deviation 13.501
|
15.455 Other - Percentile
Standard Deviation 23.192
|
28.333 Other - Percentile
Standard Deviation 40.723
|
SECONDARY outcome
Timeframe: 36 months or deathOutcome measures
| Measure |
Early
n=35 Participants
Classic Menkes disease: Copper histidine treatment beginning within 1 month of age
|
Late
n=22 Participants
Classic Menkes disease: Copper histidine treatment beginning after 1 month of age and after onset of symptoms
|
Mild
n=3 Participants
Milder variants of Menkes disease: Copper histidine treatment beginning late (L) and after onset of (milder) symptoms
|
|---|---|---|---|
|
Somatic Growth Percentiles at 3 Years of Age (or at Age of Death) - Head Circumference Percentile
|
33.286 Other - Percentile
Standard Deviation 27.060
|
11.136 Other - Percentile
Standard Deviation 14.551
|
18.333 Other - Percentile
Standard Deviation 27.538
|
Adverse Events
Early
Serious events: 10 serious events
Other events: 0 other events
Deaths: 0 deaths
Late
Serious events: 11 serious events
Other events: 0 other events
Deaths: 0 deaths
Mild
Serious events: 0 serious events
Other events: 0 other events
Deaths: 0 deaths
Serious adverse events
| Measure |
Early
n=35 participants at risk
Classic Menkes disease: Copper histidine treatment beginning within 1 month of age
|
Late
n=22 participants at risk
Classic Menkes disease: Copper histidine treatment beginning after 1 month of age and after onset of symptoms
|
Mild
n=3 participants at risk
Milder variants of Menkes disease: Copper histidine treatment beginning late (L) and after onset of (milder) symptoms
|
|---|---|---|---|
|
Nervous system disorders
Death
|
28.6%
10/35 • Number of events 10 • 36 months or death
|
50.0%
11/22 • Number of events 11 • 36 months or death
|
0.00%
0/3 • 36 months or death
|
|
Nervous system disorders
Dehydration
|
2.9%
1/35 • Number of events 1 • 36 months or death
|
0.00%
0/22 • 36 months or death
|
0.00%
0/3 • 36 months or death
|
Other adverse events
Adverse event data not reported
Additional Information
Kaler, Stephen G
National Institute of Child Health and Human Development
Phone: +1 301 451 6034
Email: [email protected]
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place