Trial · NCT01141075
Ataluren for Nonsense Mutation Methylmalonic Acidemia
NCT01141075, Phase 2, Terminated, PTC Therapeutics; results first posted 2020-07-07
3 sourcestrials-2026-11-12-0.4.0
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ConductScience Library. Ataluren for Nonsense Mutation Methylmalonic Acidemia. Trials, record NCT01141075. Release trials-2026-11-12-0.4.0, 12 Nov 2026. https://conductscience.org/library/trials/NCT01141075
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Trial
As registered on ClinicalTrials.gov, in the graph's capture of the registry.
- Title
- Ataluren for Nonsense Mutation Methylmalonic Acidemia
- NCT number
- NCT01141075
- Status
- Terminated
- Phases
- Phase 2
- Enrollment
- 11 participants, actual
- Lead sponsor
- PTC Therapeutics
- Conditions
- Amino Acid Metabolism, Inborn Errors
- Interventions
- Ataluren
- First posted
- 2010-06-10
- Last updated
- 2020-07-07
- Results first posted
- 2020-07-07
Source ClinicalTrials.gov
Registered outcomes9
Each outcome the trial registered, primary first, in ClinicalTrials.gov's words.
| List | Outcome | Time frame | Description |
|---|---|---|---|
| Primary | Plasma Methylmalonic Acid (MMacid) Levels | Baseline and Day 28 and Day 29 (last day of dosing) of Cycles 1 and 2 | Normal plasma MMacid level is \<0.27 micromole/liters (umol/L). Plasma samples for MMacid levels were collected after a 2- to 4-hour fast. Plasma MMacid levels were measured by a standard gas chromatography/mass spectroscopy (GC/MS) stable-isotope dilution method. Individual participant values in plasma MMacid levels at Baseline and end-to-treatment (Day 28 and Day 29 \[last day of dosing\]) in each cycle were recorded. |
| Secondary | Urinary MMacid Levels | Baseline and Day 28 and Day 29 (last day of dosing) of Cycles 1 and 2 | The normal urinary MMacid level is \<4 millimole/mole (mmol/mol) creatinine. Urinary samples for MMacid levels were collected after a 2- to 4-hour fast. Urinary MMacid levels were measured by a standard GC/MS stable-isotope dilution method. |
| Secondary | Plasma Propionylcarnitine Levels | Baseline and Day 28 and Day 29 (last day of dosing) of Cycles 1 and 2 | Plasma samples for propionylcarnitine levels were evaluated to detect disease activity. The level of propionylcarnitine was measured using gas chromatography and LC/MS-MS. An increase in propionylcarnitine values indicates greater disease activity. |
| Secondary | Urine Methylcitric Acid Levels | Baseline and Day 28 and Day 29 (last day of dosing) of Cycles 1 and 2 | Urine methylcitric acid levels were evaluated to detect disease activity. An increase in methylcitric acid values indicates greater disease activity. |
| Secondary | Number of Participants With Adverse Events (AEs) | Baseline up to Day 112 (end of study follow-up) | An AE was defined as any untoward medical occurrence that develops or worsens in severity during the conduct of a clinical study and does not necessarily have a causal relationship to the study drug. Severity was rated by the Investigator on a scale of mild, moderate and severe, with severe as an AE that prevents usual activities. Relationship of AE to treatment was determined by the Investigator. Serious AEs include death, a life-threatening AE, inpatient hospitalization or prolongation of existing hospitalization, persistent or significant disability or incapacity, a congenital anomaly or birth defect, or an important medical event that jeopardized the participant and required medical intervention to prevent the previously listed serious outcomes. A summary of other non-serious AEs and all serious AEs, regardless of causality is located in Reported AE section. |
| Secondary | Number of Participants With Potentially Clinically Significant Laboratory (Hematology and Biochemistry) Abnormal Results | Baseline up to Day 112 (end of study follow-up) | Hematological and biochemistry data graded according to Common Terminology Criteria for Adverse Events (CTCAE) severity grade (Grade 1 \[mild\], Grade 2 \[moderate\], Grade 3 \[severe\], Grade 4 \[life-threatening\], or Grade 5 \[fatal\]). Life-threatening (Grade 4) or severe (Grade 3) laboratory abnormalities were considered clinically significant. Recurrent or persistent moderate (Grade 2) abnormalities were also considered clinically significant in certain circumstances. Hematology assessments: white blood cell count with differential, hemoglobin, hematocrit, other red cell parameters, and platelet count. Biochemistry assessments: sodium, potassium, chloride, bicarbonate, blood urea nitrogen, creatinine, magnesium, calcium, phosphorus, uric acid, glucose, total protein, albumin, bilirubin (direct and indirect), aspartate aminotransferase, alanine aminotransferase, glutamyl transferase, creatine kinase, lactate dehydrogenase, alkaline phosphatase, total cholesterol, and triglycerides. |
| Secondary | Number of Participants With a Metabolic Decompensation Episode | Baseline up to Day 112 (end of study follow-up) | A metabolic decompensation episode is characterized by vomiting, hypotonia, and alteration of consciousness associated with metabolic acidosis and hyperammonemia. |
| Secondary | Number of Participants Compliant With Study Treatment | Baseline up to Day 29 of Cycles 1 and 2 | For each participant, compliance was described in terms of the proportion of drug actually taken relative to the amount that should have been taken during the time the participant was on study (both Cycle 1 and Cycle 2). |
| Secondary | Ataluren Plasma Exposure | Baseline on Day 0 of Cycles 1 and 2 [0 (predose), 1, 2, 3, and 4 hours postdose of the morning dose and 0 (predose) of the midday dose]; Day 28 of Cycles 1 and 2 [0 (predose), 1, 2, 3, and 4 hours postdose of the morning, midday, and evening doses] | Validated quantitative methods employing high performance liquid chromatography with tandem mass spectroscopy (HPLC-MS-MS) were used to determine plasma concentrations of unchanged ataluren. The median and full range of the total of all of the ataluren plasma concentrations collected at Baseline and at Day 28 are reported. |
Source ClinicalTrials.gov
Outcomes9
Each outcome the trial posted results for, in ClinicalTrials.gov's words.
| Type | Outcome | Time frame | Population | Units | Measured as |
|---|---|---|---|---|---|
| PRIMARY | Plasma Methylmalonic Acid (MMacid) Levels | Baseline and Day 28 and Day 29 (last day of dosing) of Cycles 1 and 2 | All randomized participants who received at least 1 dose of study drug. | umol/L | MEDIAN |
| SECONDARY | Urinary MMacid Levels | Baseline and Day 28 and Day 29 (last day of dosing) of Cycles 1 and 2 | All randomized participants who received at least 1 dose of study drug. | mmol/mol creatinine | MEDIAN |
| SECONDARY | Plasma Propionylcarnitine Levels | Baseline and Day 28 and Day 29 (last day of dosing) of Cycles 1 and 2 | All randomized participants who received at least 1 dose of study drug. | umol/L | MEDIAN |
| SECONDARY | Urine Methylcitric Acid Levels | Baseline and Day 28 and Day 29 (last day of dosing) of Cycles 1 and 2 | All randomized participants who received at least 1 dose of study drug. | mmol/mol creatinine | MEDIAN |
| SECONDARY | Number of Participants With Adverse Events (AEs) | Baseline up to Day 112 (end of study follow-up) | All randomized participants who received at least 1 dose of study drug. | Participants | COUNT_OF_PARTICIPANTS |
| SECONDARY | Number of Participants With Potentially Clinically Significant Laboratory (Hematology and Biochemistry) Abnormal Results | Baseline up to Day 112 (end of study follow-up) | All randomized participants who received at least 1 dose of study drug. | Participants | COUNT_OF_PARTICIPANTS |
| SECONDARY | Number of Participants With a Metabolic Decompensation Episode | Baseline up to Day 112 (end of study follow-up) | All randomized participants who received at least 1 dose of study drug. | Participants | COUNT_OF_PARTICIPANTS |
| SECONDARY | Number of Participants Compliant With Study Treatment | Baseline up to Day 29 of Cycles 1 and 2 | All randomized participants who received at least 1 dose of study drug. | Participants | COUNT_OF_PARTICIPANTS |
| SECONDARY | Ataluren Plasma Exposure | Baseline on Day 0 of Cycles 1 and 2 [0 (predose), 1, 2, 3, and 4 hours postdose of the morning dose and 0 (predose) of the midday dose]; Day 28 of Cycles 1 and 2 [0 (predose), 1, 2, 3, and 4 hours postdose of the morning, midday, and evening doses] | All randomized participants who received at least 1 dose of study drug and had evaluable ataluren plasma exposure data. | microgram/milliliters (μg/mL) | MEDIAN |
Source ClinicalTrials.gov
Results by group38
Each measurement the trial posted, group by group, in the words and numbers it posted.
| Outcome | Group | Category | Value | Spread | Units |
|---|---|---|---|---|---|
| Plasma Methylmalonic Acid (MMacid) Levels | Ataluren | Baseline of Cycle 1 | 153.7 | Full Range 15.5 to 971.5 | umol/L |
| Plasma Methylmalonic Acid (MMacid) Levels | Ataluren | Day 28 of Cycle 1 | 160.3 | Full Range 20.5 to 1163.3 | umol/L |
| Plasma Methylmalonic Acid (MMacid) Levels | Ataluren | Day 29 of Cycle 1 | 175.9 | Full Range 20.4 to 1432.9 | umol/L |
| Plasma Methylmalonic Acid (MMacid) Levels | Ataluren | Baseline of Cycle 2 | 196.5 | Full Range 29.3 to 933.1 | umol/L |
| Plasma Methylmalonic Acid (MMacid) Levels | Ataluren | Day 28 of Cycle 2 | 280.9 | Full Range 22.8 to 1083.3 | umol/L |
| Plasma Methylmalonic Acid (MMacid) Levels | Ataluren | Day 29 of Cycle 2 | 188.1 | Full Range 20.7 to 1390.4 | umol/L |
| Urinary MMacid Levels | Ataluren | Baseline of Cycle 1 | 1870.8 | Full Range 84.9 to 10875.7 | mmol/mol creatinine |
| Urinary MMacid Levels | Ataluren | Day 28 of Cycle 1 | 1953.0 | Full Range 100.9 to 12768.5 | mmol/mol creatinine |
| Urinary MMacid Levels | Ataluren | Day 29 of Cycle 1 | 1364.6 | Full Range 173.2 to 31412.4 | mmol/mol creatinine |
| Urinary MMacid Levels | Ataluren | Baseline of Cycle 2 | 1577.7 | Full Range 241.8 to 16603.9 | mmol/mol creatinine |
1 to 10 of 38Source ClinicalTrials.gov
See all 38 results by groupParticipant flow8
How many started, completed or left each group, period by period.
| Period | Milestone | Group | Participants | Units counted |
|---|---|---|---|---|
| Cycle 1 | STARTED | Ataluren | 11 | |
| Cycle 1 | Received at Least 1 Dose of Study Drug | Ataluren | 11 | |
| Cycle 1 | COMPLETED | Ataluren | 11 | |
| Cycle 1 | NOT COMPLETED | Ataluren | 0 | |
| Cycle 2 | STARTED | Ataluren | 11 | |
| Cycle 2 | Received at Least 1 Dose of Study Drug | Ataluren | 11 | |
| Cycle 2 | COMPLETED | Ataluren | 11 | |
| Cycle 2 | NOT COMPLETED | Ataluren | 0 |
Source ClinicalTrials.gov
Adverse events26
Each adverse event the trial posted, group by group: the participants affected out of those at risk.
| Type | Event | Organ system | Group | Affected | At risk | Events |
|---|---|---|---|---|---|---|
| other | Glomerular vascular disorder | Renal and urinary disorders | Ataluren | 2 | 11 | |
| other | Hypercreatininaemia | Renal and urinary disorders | Ataluren | 2 | 11 | |
| other | Hypertransaminasaemia | Hepatobiliary disorders | Ataluren | 1 | 11 | |
| other | Hypercalcaemia | Metabolism and nutrition disorders | Ataluren | 1 | 11 | |
| other | Hypercholesterolaemia | Metabolism and nutrition disorders | Ataluren | 1 | 11 | |
| other | Gastroenteritis | Infections and infestations | Ataluren | 1 | 11 | |
| other | Abdominal pain | Gastrointestinal disorders | Ataluren | 2 | 11 | |
| other | Rhinorrhoea | Respiratory, thoracic and mediastinal disorders | Ataluren | 1 | 11 | |
| other | Hypertriglyceridaemia | Metabolism and nutrition disorders | Ataluren | 2 | 11 | |
| other | Haematoma | Vascular disorders | Ataluren | 1 | 11 |
1 to 10 of 26Source ClinicalTrials.gov
See all 26 adverse eventsAdverse event totals3
The totals the trial posted for each group.
| Total | Group | Affected | At risk |
|---|---|---|---|
| Total, all-cause mortality | Ataluren | ||
| Total, other adverse events | Ataluren | 10 | 11 |
| Total, serious adverse events | Ataluren | 0 | 11 |
Source ClinicalTrials.gov
Papers2
The papers the trial lists on ClinicalTrials.gov.
Grants0
The grants NIH RePORTER links to the trial, newest funded first: NIH's, and some of AHRQ's, CDC's, FDA's and VA's. Each shows its title, principal investigators, organization and funder in its newest year.
None in this release.
Trial comparisons0
Comparisons of the trial's two groups, calculated by ConductScience from the counts it posted.
None in this release.
Tests0
The ConductCognition tests this trial's registered outcomes name, as ScienceGraph matched them in trial-tests-2026-11-12-0.2.1.
None in this release.
Data dates
The day each source was copied for this release.
Sources 3
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ClinicalTrials.govNo license stated
- NIH RePORTER's clinical studies and project filesPublic domain
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ClinicalTrials.govnone stated
- NIH RePORTER's clinical studies and project filesPublic domain (NIH RePORTER)
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
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