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Oral Epalrestat Therapy in Pediatric Subjects With PMM2-CDG

NCT04925960 · Status: TERMINATED · Phase: PHASE3 · Type: INTERVENTIONAL · Enrollment: 42

Last updated 2025-09-25

No results posted yet for this study

Summary

This is a prospective, single-center, randomized, double-blind, placebo-controlled study designed to assess the safety, tolerability, and clinical and metabolic improvement of pediatric subjects with PMM2-CDG on oral epalrestat therapy vs. placebo.

Conditions

  • Pmm2-CDG
  • Phosphomannomutase 2 Deficiency
  • Phosphomannomutase 2 Congenital Disorder of Glycosylation
  • Phosphomannomutase II Congenital Disorder of Glycosylation
  • Phosphomannomutase II Deficiency

Interventions

DRUG

Epalrestat

Epalrestat is a noncompetitive and reversible aldose reductase inhibitor (ARI) used for the treatment of diabetic neuropathy in Japan. The drug's ability to safely improve symptoms of neuropathy alone by reducing oxidative stress, increasing glutathione levels, and reducing intracellular sorbitol accumulation make it a desirable medication for PMM2-CDG patients who commonly suffer with various neuropathies. However, work recently conducted by Perlara, a public benefit company with the mandate to screen existing commercially available drugs for possible application in rare diseases, has demonstrated that Epalrestat can also elevate the level PMM2 produced endogenously. This may reduce the severity of the morbidities associated with PMM2-CDG.

DRUG

Placebo

The placebo capsule with be identical in appearance to the Epalrestat capsule. It will contain microcrystalline cellulose filler in a gelatin capsule.

Sponsors & Collaborators

  • Maggie's Pearl, LLC

    lead INDUSTRY

Principal Investigators

  • Eva Morava-Kozicz, MD, PhD · Mayo Clinic

Study Design

Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
QUADRUPLE
Model
PARALLEL

Eligibility

Min Age
2 Years
Max Age
17 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-11-10
Primary Completion
2025-02-28
Completion
2025-02-28
FDA Drug
Yes

Countries

  • United States

Study Locations

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Entities

Drugs

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04925960 on ClinicalTrials.gov