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Could a diabetes drug help kids with rare PMM2-CDG?
NCT ID NCT04925960
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study tested an oral drug called epalrestat, originally used for diabetic nerve pain, in children with PMM2-CDG, a rare genetic disorder that causes nerve problems and other symptoms. The trial aimed to see if the drug could safely improve nerve function and metabolic markers. However, the study was terminated early, so we have limited data on its effectiveness.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- Epalrestat (a drug used for diabetic neuropathy in Japan)
- What this could lead to
- If successful, epalrestat could offer a way to manage neuropathy symptoms and improve quality of life for children with PMM2-CDG.
- What could go wrong
- The trial was terminated early, so results are limited. Epalrestat is repurposed from diabetes and may not work for this rare genetic condition.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
-
Phase 3
Large-scale testing in a bigger group. Usually the last step before a treatment can be approved.
- Participants
-
42 people
The number who actually took part.
- Started
-
Nov 2022
- Finished
-
Feb 2025
- Lead sponsor
-
A company
The lead sponsor is a pharmaceutical, biotech, or medical-device company.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
-
2 to 17 years
- Sex
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Anyone
- Healthy volunteers
-
Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: 1. Age ≥ 2 and \< 18 years 2. Diagnosis of PMM2-CDG, based on molecularly confirmed biallelic PMM2 pathogenic variants (can be historical diagnosis with lab report on file) 3. Informed consent (and assent, as applicable) document personally signed by the legally authorized representative of the patient, indicating that the patient's parent/guardian has been informed and agreed to all aspects of the study 4. Be willing and able to adhere to the study assessments and schedule described in the protocol and consent/assent documents 5. Negative urine pregnancy test (only for female subjects of child-bearing potential) 6. For subjects of child-bearing potential-only, subject has been counseled on and agrees to the requirement either for double barrier contraceptive methods and/or for total abstinence from prior to randomization through 3-months after the cessation of treatment. Exclusion Criteria: 1. Known or suspected other known CDG 2. Known allergy to aldose reductase inhibitors 3. Hypersensitivity to epalrestat 4. Hepatic impairment defined as any one of the following: 1. AST/ALT \>5x ULN in the 6 months prior to screening 2. Bilirubin \>2X ULN in the last 6 months prior to screening 3. Synthetic liver dysfunction (albumin deficiency \< 2.8 mmol/L) at screening, or 4. Diagnosis of liver fibrosis (Fibroscan \> 7 kPa) confirmed by liver elastogram at screening 5. Renal impairment defined as serum creatinine: \> 0.5 mg/dL (≤ 6 years); \> 0.7 mg/dL (7-10 years); \> 1.24 mg/dL (≥ 11 years) 6. Low platelet count (\< 125x109 /L) 7. Any other clinically significant lab abnormality which, in the opinion of the investigator, should be exclusionary 8. Anemia (Hgb \< 10 g/dL) 9. Use of an investigational drug, including acetazolamide, in the past 28 days; use of an investigational biologic in the past 12 months 10. Concurrent or planned participation in interventional protocol or use of any other unapproved therapeutics, and, 11. Any other medical condition, which, in the opinion of the investigator, will interfere with the patient's ability to comply with the protocol, compromises patient safety, or interferes with the interpretation of the study results.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
-
Mayo Clinic
Rochester, Minnesota, 55905, United States
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