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Trial record 10 of 31211 for:    NIH

An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy

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ClinicalTrials.gov Identifier: NCT02346461
Recruitment Status : Completed
First Posted : January 27, 2015
Results First Posted : April 16, 2019
Last Update Posted : April 16, 2019
Sponsor:
Collaborator:
National Center for Advancing Translational Science (NCATS)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Study Type Interventional
Study Design Allocation: Non-Randomized;   Intervention Model: Single Group Assignment;   Masking: None (Open Label);   Primary Purpose: Treatment
Condition GNE Myopathy
Intervention Drug: ManNAc
Enrollment 12
Recruitment Details  
Pre-assignment Details  
Arm/Group Title ManNAc: Cohort A ManNAc: Cohort B
Hide Arm/Group Description Cohort A received oral ManNAc 3 g twice daily (6 g/day) for 7 days and, then were escalated to 6 g twice daily (12 g/day) for the remainder of the study. Cohort B received oral ManNAc 6 g twice daily (12 g/day) for the duration of the study.
Period Title: Overall Study
Started 6 6
Completed 6 6
Not Completed 0 0
Arm/Group Title ManNAc: Cohort A ManNAc: Cohort B Total
Hide Arm/Group Description Cohort A received oral ManNAc 3 g twice daily (6 g/day) for 7 days and, then were escalated to 6 g twice daily (12 g/day) for the remainder of the study. Cohort B received oral ManNAc 6 g twice daily (12 g/day) for the duration of the study. Total of all reporting groups
Overall Number of Baseline Participants 6 6 12
Hide Baseline Analysis Population Description
[Not Specified]
Age, Categorical  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 6 participants 6 participants 12 participants
<=18 years
0
   0.0%
0
   0.0%
0
   0.0%
Between 18 and 65 years
6
 100.0%
6
 100.0%
12
 100.0%
>=65 years
0
   0.0%
0
   0.0%
0
   0.0%
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 6 participants 6 participants 12 participants
Female
4
  66.7%
2
  33.3%
6
  50.0%
Male
2
  33.3%
4
  66.7%
6
  50.0%
Ethnicity (NIH/OMB)  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 6 participants 6 participants 12 participants
Hispanic or Latino
0
   0.0%
0
   0.0%
0
   0.0%
Not Hispanic or Latino
6
 100.0%
6
 100.0%
12
 100.0%
Unknown or Not Reported
0
   0.0%
0
   0.0%
0
   0.0%
Race (NIH/OMB)  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 6 participants 6 participants 12 participants
American Indian or Alaska Native
0
   0.0%
0
   0.0%
0
   0.0%
Asian
2
  33.3%
2
  33.3%
4
  33.3%
Native Hawaiian or Other Pacific Islander
0
   0.0%
0
   0.0%
0
   0.0%
Black or African American
0
   0.0%
0
   0.0%
0
   0.0%
White
4
  66.7%
4
  66.7%
8
  66.7%
More than one race
0
   0.0%
0
   0.0%
0
   0.0%
Unknown or Not Reported
0
   0.0%
0
   0.0%
0
   0.0%
1.Primary Outcome
Title Mean Area Under the Curve (AUClast) of Plasma ManNAc (Baseline-adjusted)
Hide Description The mean area under the plasma ManNAc concentration-versus time curve from time 0 (dosing) to the time of last quantifiable concentration.
Time Frame Day 7
Hide Outcome Measure Data
Hide Analysis Population Description
All subjects received ManNAc
Arm/Group Title ManNAc: Cohort A ManNAc: Cohort B
Hide Arm/Group Description:
ManNAc 3 g twice daily (6 g/day) for 7 days
ManNAc 6 g twice daily (12 g/day)
Overall Number of Participants Analyzed 6 6
Mean (Standard Deviation)
Unit of Measure: hr*ng/mL
7461  (1776) 9432  (2710)
2.Primary Outcome
Title Maximum Observed Plasma Concentration (Cmax) of ManNAc (Baseline-adjusted)
Hide Description The maximum (or peak) plasma ManNAc concentration that the drug achieves in the body after the drug has been administrated.
Time Frame Day 7
Hide Outcome Measure Data
Hide Analysis Population Description
All subjects received ManNAc
Arm/Group Title ManNAc: Cohort A ManNAc: Cohort B
Hide Arm/Group Description:
ManNAc 3 g twice daily (6 g/day) for 7 days
ManNAc 6 g twice daily (12 g/day)
Overall Number of Participants Analyzed 6 6
Geometric Mean (Standard Deviation)
Unit of Measure: ng/mL
1588  (28.9) 1774  (21.2)
3.Primary Outcome
Title The Time to Cmax (Tmax) for ManNAc
Hide Description The time taken to achieve the maximum observed plasma concentration for ManNAc .
Time Frame Day 7
Hide Outcome Measure Data
Hide Analysis Population Description
All subjects received ManNAc
Arm/Group Title ManNAc: Cohort A ManNAc: Cohort B
Hide Arm/Group Description:
ManNAc 3 g twice daily (6 g/day) for 7 days
ManNAc 6 g twice daily (12 g/day)
Overall Number of Participants Analyzed 6 6
Median (Standard Deviation)
Unit of Measure: hours
2.0  (0.4) 2.5  (0.8)
4.Primary Outcome
Title Half-life (t ½) for ManNAc
Hide Description The amount of time it takes for plasma ManNAc concentration to decline by half.
Time Frame Day 7
Hide Outcome Measure Data
Hide Analysis Population Description
All subjects received ManNAc
Arm/Group Title ManNAc: Cohort A ManNAc: Cohort B
Hide Arm/Group Description:
ManNAc 3 g twice daily (6 g/day) for 7 days
ManNAc 6 g twice daily (12 g/day)
Overall Number of Participants Analyzed 6 6
Median (Standard Deviation)
Unit of Measure: hours
2.0  (0.3) 2.1  (1.1)
5.Primary Outcome
Title Mean Area Under the Curve (AUClast) of Plasma Neu5Ac (Baseline-adjusted)
Hide Description The mean area under the plasma Neu5Ac concentration-versus time curve from time 0 (dosing) to the time of last quantifiable concentration.
Time Frame Day 7
Hide Outcome Measure Data
Hide Analysis Population Description
All subjects received ManNAc
Arm/Group Title ManNAc: Cohort A ManNAc: Cohort B
Hide Arm/Group Description:
ManNAc 3 g twice daily (6 g/day) for 7 days
ManNAc 6 g twice daily (12 g/day)
Overall Number of Participants Analyzed 6 6
Mean (Standard Deviation)
Unit of Measure: hr*ng/mL
4206  (1352) 5175  (1421)
6.Primary Outcome
Title Maximum Observed Plasma Concentration (Cmax) of Neu5Ac (Baseline-adjusted)
Hide Description The maximum (or peak) plasma Neu5Ac concentration that the drug achieves in the body after the drug has been administrated.
Time Frame Day 7
Hide Outcome Measure Data
Hide Analysis Population Description
All subjects received ManNAc
Arm/Group Title ManNAc: Cohort A ManNAc: Cohort B
Hide Arm/Group Description:
ManNAc 3 g twice daily (6 g/day) for 7 days
ManNAc 6 g twice daily (12 g/day)
Overall Number of Participants Analyzed 6 6
Geometric Mean (Standard Deviation)
Unit of Measure: ng/mL
469  (35.1) 620  (25.5)
7.Primary Outcome
Title The Time to Cmax (Tmax) for Neu5Ac
Hide Description The time taken to achieve the maximum observed plasma concentration for Neu5Ac.
Time Frame Day 7
Hide Outcome Measure Data
Hide Analysis Population Description
All subjects received ManNAc
Arm/Group Title ManNAc: Cohort A ManNAc: Cohort B
Hide Arm/Group Description:
ManNAc 3 g twice daily (6 g/day) for 7 days
ManNAc 6 g twice daily (12 g/day)
Overall Number of Participants Analyzed 6 6
Median (Standard Deviation)
Unit of Measure: hours
8.0  (4.1) 6.0  (3.4)
Time Frame 30 months
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title ManNAc 3 g - 7 Days ManNAc 6 g - 7 Days ManNAc 6 g - Day 8 to 30 Months
Hide Arm/Group Description Subjects who received oral ManNAc 3 g twice daily (6 g/day) for the first 7 days. Subjects who received oral ManNAc 6 g twice daily (12 g/day) for the first 7 days. All subjects received oral ManNAc 6 g twice daily (12 g/day) from day 8 to the end of the study at 30 months.
All-Cause Mortality
ManNAc 3 g - 7 Days ManNAc 6 g - 7 Days ManNAc 6 g - Day 8 to 30 Months
Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%)
Total   0/6 (0.00%)   0/6 (0.00%)   0/12 (0.00%) 
Show Serious Adverse Events Hide Serious Adverse Events
ManNAc 3 g - 7 Days ManNAc 6 g - 7 Days ManNAc 6 g - Day 8 to 30 Months
Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%)
Total   0/6 (0.00%)   0/6 (0.00%)   0/12 (0.00%) 
Show Other (Not Including Serious) Adverse Events Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 0%
ManNAc 3 g - 7 Days ManNAc 6 g - 7 Days ManNAc 6 g - Day 8 to 30 Months
Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%)
Total   5/6 (83.33%)   6/6 (100.00%)   12/12 (100.00%) 
Blood and lymphatic system disorders       
Anaemia  1  0/6 (0.00%)  2/6 (33.33%)  3/12 (25.00%) 
Gastrointestinal disorders       
Abdominal distension  1  2/6 (33.33%)  1/6 (16.67%)  2/12 (16.67%) 
Abdominal pain  1  1/6 (16.67%)  0/6 (0.00%)  0/12 (0.00%) 
Constipation  1  1/6 (16.67%)  0/6 (0.00%)  0/12 (0.00%) 
Diarrhoea  1  0/6 (0.00%)  0/6 (0.00%)  3/12 (25.00%) 
Dyspepsia  1  0/6 (0.00%)  0/6 (0.00%)  2/12 (16.67%) 
Flatulence  1  2/6 (33.33%)  2/6 (33.33%)  4/12 (33.33%) 
General disorders       
Oedema peripheral  1  1/6 (16.67%)  0/6 (0.00%)  0/12 (0.00%) 
Pain  1  1/6 (16.67%)  0/6 (0.00%)  1/12 (8.33%) 
Infections and infestations       
Bronchitis  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Sinusitis  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Skin infection  1  0/6 (0.00%)  0/6 (0.00%)  2/12 (16.67%) 
Injury, poisoning and procedural complications       
Fall  1  0/6 (0.00%)  0/6 (0.00%)  5/12 (41.67%) 
Investigations       
Activated partial thromboplastin time prolonged  1  0/6 (0.00%)  2/6 (33.33%)  7/12 (58.33%) 
Alanine aminotransferase increased  1  2/6 (33.33%)  3/6 (50.00%)  6/12 (50.00%) 
Aspartate aminotransferase increased  1  1/6 (16.67%)  4/6 (66.67%)  2/12 (16.67%) 
Blood bilirubin increased  1  0/6 (0.00%)  1/6 (16.67%)  1/12 (8.33%) 
Blood cholesterol increased  1  0/6 (0.00%)  0/6 (0.00%)  3/12 (25.00%) 
Blood creatine phosphokinase increased  1  2/6 (33.33%)  4/6 (66.67%)  8/12 (66.67%) 
Electrocardiogram QT prolonged  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Gamma-glutamyltransferase increased  1  0/6 (0.00%)  1/6 (16.67%)  2/12 (16.67%) 
Lymphocyte count decreased  1  0/6 (0.00%)  2/6 (33.33%)  0/12 (0.00%) 
Platelet count decreased  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Weight decreased  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Weight increased  1  0/6 (0.00%)  0/6 (0.00%)  5/12 (41.67%) 
White blood cell count decreased  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Metabolism and nutrition disorders       
Hyperglycaemia  1  1/6 (16.67%)  0/6 (0.00%)  5/12 (41.67%) 
Hypertriglyceridaemia  1  2/6 (33.33%)  0/6 (0.00%)  3/12 (25.00%) 
Hypoalbuminaemia  1  0/6 (0.00%)  1/6 (16.67%)  1/12 (8.33%) 
Hypocalcaemia  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Obesity  1  2/6 (33.33%)  0/6 (0.00%)  6/12 (50.00%) 
Vitamin D deficiency  1  0/6 (0.00%)  0/6 (0.00%)  2/12 (16.67%) 
Musculoskeletal and connective tissue disorders       
Back pain  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Myalgia  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Myositis  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Nervous system disorders       
Headache  1  1/6 (16.67%)  0/6 (0.00%)  2/12 (16.67%) 
Presyncope  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
syncope  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Renal and urinary disorders       
Haematuria  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Skin and subcutaneous tissue disorders       
Basal cell carcinoma  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Dyshidrotic eczema  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Pruritus  1  0/6 (0.00%)  0/6 (0.00%)  1/12 (8.33%) 
Rash maculo-papular  1  1/6 (16.67%)  0/6 (0.00%)  2/12 (16.67%) 
Skin induration  1  1/6 (16.67%)  0/6 (0.00%)  0/12 (0.00%) 
1
Term from vocabulary, MedDRA (Unspecified)
Indicates events were collected by systematic assessment
Certain Agreements
All Principal Investigators ARE employed by the organization sponsoring the study.
Results Point of Contact
Layout table for Results Point of Contact information
Name/Title: Carrillo, Nuria
Organization: National Human Genome Research Institute
Phone: +1 301 402 2324
EMail: nuria.carrillo@nih.gov
Layout table for additonal information
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
ClinicalTrials.gov Identifier: NCT02346461     History of Changes
Other Study ID Numbers: 150068
15-HG-0068
First Submitted: January 24, 2015
First Posted: January 27, 2015
Results First Submitted: December 27, 2018
Results First Posted: April 16, 2019
Last Update Posted: April 16, 2019