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Condition (MeSH)

Maple Syrup Urine Disease

ClinicalTrials.gov lists 10 trials for Maple Syrup Urine Disease or a narrower condition beneath it.

MeSH D008375 Nervous System Diseases C10 C16 C18 Listed by Orphanet as a rare disease
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Phase 2/3 Phase 2/3 1 Not applicable Not applicable 3 Observational Observational 6 Phase 2/3 Phase 2/3 1 Not applicable Not applicable 3 Observational Observational 6

Trials per phase

10 of the 10 trials are tagged with Maple Syrup Urine Disease itself; the rest are tagged with a narrower condition beneath it.

Get the Maple Syrup Urine Disease report as a PDF

The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

When did Maple Syrup Urine Disease trials start? (6)

Shown in this order: most recent first, 1990 onwards. 2026 is partial: trials registered with a 2026 start date so far, not a full year.

Trials over time, by phase

  • Phase 2/3
  • Not applicable
  • Observational

Top of scale: 3

2013: 1 trials (Phase 2/3 1) 2019: 1 trials (Observational 1) 2020: 1 trials (Observational 1) 2021: 2 trials (Observational 1, Not applicable 1) 2022: 2 trials (Observational 2) 2024: 3 trials (Observational 1, Not applicable 2)

Trials registered with a start date in each year, 1990 onward, stacked by phase (complete years only; the current partial year is in the table's notes). The table below lists the same counts, most recent years first.

Trials started per year
Year Trials started
2024 3
2022 2
2021 2
2020 1
2019 1
2013 1

No forecast is made for this condition: it averages 1.0 trial starts a year over the five years to September, under the 5 a year the method needs.

Recruitment duration, a model prediction: none of the 10 trials evaluated at the 2026-10-09 snapshot is predicted and still running. Source: ClinicalTrials.gov / AACT (CTTI), public domain.

What phase are Maple Syrup Urine Disease trials in? (3)

Shown in this order: phase order.

Show the trials by phase as a table
Trials by phase
Phase Trials
Phase 2/3 1
Not applicable 3
Observational 6

How many Maple Syrup Urine Disease trials are recruiting? (4)

Shown in this order: the order a trial moves through, from not yet recruiting to unknown.

Trials by recruitment status
Status Trials
Not yet recruiting 2
Recruiting 1
Completed 5
Unknown status 2

Status as registered on ClinicalTrials.gov. Each trial is counted once.

Which lead sponsors run the most Maple Syrup Urine Disease trials? (3)

Shown in this order: most trials first. Lead sponsors the registry classes as industry, NIH, US federal, other government or network. A hospital or university the registry files as government can appear here. Sponsors it classes as academic or other are shown on the full page, because that class cannot separate an institution from a named investigator.

Lead sponsors
Sponsor Trials
Meta Healthcare Ltd 1
Vitaflo International, Ltd 1
metaX Institut fuer Diatetik GmbH 1

Interventions as named in the registry (1)

Shown in this order: most trials first.

Interventions as named in the registry
Drug Trials
4-Phenylbutyrate 1

These are the names sponsors entered on ClinicalTrials.gov that we have not matched to a single molecule. Some are drugs under a brand or code name; others are procedures, doses or arm labels.

Which publications cover Maple Syrup Urine Disease? (2)

Shown in this order: major-topic papers first, then newest, then most linked to trials.

Publications
Publication Journal Year Major topic
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology 2003 Yes
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. American journal of medical genetics. Part C, Seminars in medical genetics 2003 Yes

Prevalence (39)

Shown in this order: jurisdiction, then disease name. Orphanet observation for the mapped ORPHA concept; the mapping relation column says whether that concept is exactly this condition or broader or narrower.

Prevalence
Orphanet disease Type Class Geography Jurisdiction Mapping relation
Maple syrup urine disease Prevalence at birth 1-9 / 1 000 000 United States US Unspecified
Maple syrup urine disease Prevalence at birth 1-9 / 1 000 000 United States US Exact
Maple syrup urine disease Prevalence at birth 1-9 / 1 000 000 United States US Exact
Maple syrup urine disease Prevalence at birth 1-9 / 100 000 Portugal Not stated Unspecified
Maple syrup urine disease Prevalence at birth 1-9 / 1 000 000 Worldwide Not stated Unspecified

Rare-disease identity (2)

Shown in this order: exact, broader, narrower, other.

Rare-disease identity
Orphanet disease ORPHA code Relation Source
Maple syrup urine disease 511 Exact Orphadata Science knowledge files, Product 1
Maple syrup urine disease 511 Exact Orphanet Rare Disease Ontology (ORDO)

Not on this page

Not measured: delivery record.

Checked, with nothing recorded for this condition: serious adverse events in this condition's trials and sub-conditions in mesh.

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