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Could a diabetes drug help kids with rare PMM2-CDG?

NCT ID NCT04925960

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early This study
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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

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

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

More trials for these conditions

Other studies related to the condition(s) this trial covers.