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An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy
Phase 2 trial testing ManNAc in GNE Myopathy in 12 participants. Completed in 15 November 2018.
| Lead sponsor | National Human Genome Research Institute (NHGRI) |
|---|---|
| Phase | Phase 2 |
| Status | Completed |
| Study type | INTERVENTIONAL |
| Allocation | non randomized |
| Design | single group |
| Masking | none |
| Primary purpose | treatment |
| Enrollment | 12 |
| Start date | 5 February 2015 |
| Primary completion | 30 December 2017 |
| Estimated completion | 15 November 2018 |
| Sites | 1 location across United States |
National Human Genome Research Institute (NHGRI)
Adults 18 to 60, any sex, with GNE Myopathy. Patients with the condition only — healthy volunteers not accepted.
Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.
The mean area under the plasma ManNAc concentration-versus time curve from time 0 (dosing) to the time of last quantifiable concentration.
| Group | Value | 95% CI |
|---|---|---|
| ManNAc: Cohort A | 7461 | ± 1776 |
| ManNAc: Cohort B | 9432 | ± 2710 |
The maximum (or peak) plasma ManNAc concentration that the drug achieves in the body after the drug has been administrated.
| Group | Value | 95% CI |
|---|---|---|
| ManNAc: Cohort A | 1588 | ± 28.9 |
| ManNAc: Cohort B | 1774 | ± 21.2 |
The time taken to achieve the maximum observed plasma concentration for ManNAc .
| Group | Value | 95% CI |
|---|---|---|
| ManNAc: Cohort A | 2.0 | ± 0.4 |
| ManNAc: Cohort B | 2.5 | ± 0.8 |
The amount of time it takes for plasma ManNAc concentration to decline by half.
| Group | Value | 95% CI |
|---|---|---|
| ManNAc: Cohort A | 2.0 | ± 0.3 |
| ManNAc: Cohort B | 2.1 | ± 1.1 |
The mean area under the plasma Neu5Ac concentration-versus time curve from time 0 (dosing) to the time of last quantifiable concentration.
| Group | Value | 95% CI |
|---|---|---|
| ManNAc: Cohort A | 4206 | ± 1352 |
| ManNAc: Cohort B | 5175 | ± 1421 |
The maximum (or peak) plasma Neu5Ac concentration that the drug achieves in the body after the drug has been administrated.
| Group | Value | 95% CI |
|---|---|---|
| ManNAc: Cohort A | 469 | ± 35.1 |
| ManNAc: Cohort B | 620 | ± 25.5 |
The time taken to achieve the maximum observed plasma concentration for Neu5Ac.
| Group | Value | 95% CI |
|---|---|---|
| ManNAc: Cohort A | 8.0 | ± 4.1 |
| ManNAc: Cohort B | 6.0 | ± 3.4 |
Time frame: 30 months. Reporting threshold: 0%. Adverse-event reports describe events observed during the trial — not all are caused by the drug.
| Reaction | System | ManNAc 3 g - 7 Days | ManNAc 6 g - 7 Days | ManNAc 6 g - Day 8 to 30 M… |
|---|---|---|---|---|
| Blood creatine phosphokinase increased | Investigations | — | — | — |
| Activated partial thromboplastin time prolonged | Investigations | — | — | — |
| Alanine aminotransferase increased | Investigations | — | — | — |
| Obesity | Metabolism and nutrition disorders | — | — | — |
| Fall | Injury, poisoning and procedural complications | — | — | — |
| Hyperglycaemia | Metabolism and nutrition disorders | — | — | — |
| Weight increased | Investigations | — | — | — |
| Aspartate aminotransferase increased | Investigations | — | — | — |
| Flatulence | Gastrointestinal disorders | — | — | — |
| Anaemia | Blood and lymphatic system disorders | — | — | — |
| Blood cholesterol increased | Investigations | — | — | — |
| Diarrhoea | Gastrointestinal disorders | — | — | — |
| Hypertriglyceridaemia | Metabolism and nutrition disorders | — | — | — |
| Abdominal distension | Gastrointestinal disorders | — | — | — |
| Dyspepsia | Gastrointestinal disorders | — | — | — |
| Gamma-glutamyltransferase increased | Investigations | — | — | — |
| Headache | Nervous system disorders | — | — | — |
| Lymphocyte count decreased | Investigations | — | — | — |
| Rash maculo-papular | Skin and subcutaneous tissue disorders | — | — | — |
| Skin infection | Infections and infestations | — | — | — |
| Vitamin D deficiency | Metabolism and nutrition disorders | — | — | — |
| Abdominal pain | Gastrointestinal disorders | — | — | — |
| Back pain | Musculoskeletal and connective tissue disorders | — | — | — |
| Basal cell carcinoma | Skin and subcutaneous tissue disorders | — | — | — |
| Blood bilirubin increased | Investigations | — | — | — |
| Bronchitis | Infections and infestations | — | — | — |
| Constipation | Gastrointestinal disorders | — | — | — |
| Dyshidrotic eczema | Skin and subcutaneous tissue disorders | — | — | — |
| Electrocardiogram QT prolonged | Investigations | — | — | — |
| Haematuria | Renal and urinary disorders | — | — | — |
| Hypoalbuminaemia | Metabolism and nutrition disorders | — | — | — |
| Hypocalcaemia | Metabolism and nutrition disorders | — | — | — |
| Myalgia | Musculoskeletal and connective tissue disorders | — | — | — |
| Myositis | Musculoskeletal and connective tissue disorders | — | — | — |
| Oedema peripheral | General disorders | — | — | — |
| Pain | General disorders | — | — | — |
| Platelet count decreased | Investigations | — | — | — |
| Presyncope | Nervous system disorders | — | — | — |
| Pruritus | Skin and subcutaneous tissue disorders | — | — | — |
| Sinusitis | Infections and infestations | — | — | — |
Data from ClinicalTrials.gov NCT02346461 adverse events section.
Background: Patients with GNE myopathy have progressive muscle weakness and can have difficulty walking and decreased mobility. The disease is a rare genetic disorder that results from a gene mutation in a key step in the body's production of a sugar called sialic acid, (also called N-acetylneuraminic acid, Neu5Ac). Researchers think decreased sialic acid bound to muscle proteins may be the cause of muscle wasting in GNE myopathy. Researchers are testing the drug ManNAc which is a precursor in the production of sialic acid within cells. ManNAc is provided as a powder dissolved in water to be administered orally.
8 peer-reviewed publications reference this trial (live from Europe PMC):
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