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Condition (MeSH)

Metabolism, Inborn Errors

ClinicalTrials.gov lists 3,417 trials for Metabolism, Inborn Errors or a narrower condition beneath it. Genzyme, a Sanofi Company has the most among industry and government lead sponsors, with 79.

MeSH D008661 Congenital / Hereditary / Neonatal C16 C18 Listed by Orphanet as a rare disease
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Phase 1 Phase 1 347 Phase 1/2 Phase 1/2 225 Phase 2 Phase 2 414 Phase 2/3 Phase 2/3 75 Phase 3 Phase 3 373 Phase 4 Phase 4 175 Not applicable Not applicable 568 Observational Observational 1,195 Phase 1 Phase 1 347 Phase 1/2 Phase 1/2 225 Phase 2 Phase 2 414 Phase 2/3 Phase 2/3 75 Phase 3 Phase 3 373 Phase 4 Phase 4 175 Not applicable Not applicable 568 Observational Observational 1,195

Trials per phase

1 more section with rows

151 of the 3,417 trials are tagged with Metabolism, Inborn Errors itself; the rest are tagged with a narrower condition beneath it.

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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 Metabolism, Inborn Errors trials start? (37)

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. 10 trials are registered to start in 2027 or later, and not listed here.

Trials over time, by phase

  • Phase 1
  • Phase 1/2
  • Phase 2
  • Phase 2/3
  • Phase 3
  • Phase 4
  • Not applicable
  • Observational
  • Other (Expanded access)

Top of scale: 219

1990: 1 trials (Phase 1/2 1) 1991: 3 trials (Observational 3) 1992: 7 trials (Observational 3, Phase 3 2, Phase 1 2) 1993: 7 trials (Observational 3, Phase 4 1, Phase 2 1, Phase 1/2 1, Phase 1 1) 1994: 5 trials (Observational 3, Phase 3 1, Phase 2 1) 1995: 15 trials (Observational 7, Not applicable 3, Phase 3 1, Phase 2/3 1, Phase 2 2, Phase 1 1) 1996: 5 trials (Not applicable 1, Phase 3 1, Phase 2 2, Phase 1/2 1) 1997: 7 trials (Observational 5, Phase 4 1, Phase 2 1) 1998: 17 trials (Observational 3, Not applicable 3, Phase 4 1, Phase 3 1, Phase 2 3, Phase 1/2 1, Phase 1 5) 1999: 21 trials (Observational 7, Not applicable 3, Phase 4 1, Phase 3 1, Phase 2 3, Phase 1 6) 2000: 18 trials (Observational 7, Not applicable 2, Phase 4 1, Phase 3 4, Phase 2 3, Phase 1 1) 2001: 28 trials (Observational 14, Phase 4 4, Phase 3 3, Phase 2 5, Phase 1 2) 2002: 28 trials (Observational 7, Phase 4 1, Phase 3 5, Phase 2/3 1, Phase 2 8, Phase 1/2 1, Phase 1 5) 2003: 41 trials (Other 1, Observational 12, Not applicable 3, Phase 4 3, Phase 3 6, Phase 2/3 3, Phase 2 10, Phase 1/2 1, Phase 1 2) 2004: 47 trials (Observational 17, Not applicable 3, Phase 4 6, Phase 3 7, Phase 2/3 1, Phase 2 7, Phase 1/2 2, Phase 1 4) 2005: 43 trials (Observational 11, Not applicable 1, Phase 4 3, Phase 3 13, Phase 2/3 1, Phase 2 6, Phase 1 8) 2006: 63 trials (Observational 14, Not applicable 6, Phase 4 5, Phase 3 14, Phase 2/3 2, Phase 2 14, Phase 1/2 2, Phase 1 6) 2007: 78 trials (Observational 23, Not applicable 9, Phase 4 8, Phase 3 10, Phase 2/3 5, Phase 2 12, Phase 1/2 6, Phase 1 5) 2008: 79 trials (Observational 23, Not applicable 4, Phase 4 4, Phase 3 14, Phase 2/3 3, Phase 2 14, Phase 1/2 3, Phase 1 14) 2009: 91 trials (Observational 22, Not applicable 14, Phase 4 3, Phase 3 14, Phase 2/3 4, Phase 2 19, Phase 1/2 6, Phase 1 9) 2010: 97 trials (Observational 35, Not applicable 13, Phase 4 7, Phase 3 8, Phase 2/3 1, Phase 2 16, Phase 1/2 10, Phase 1 7) 2011: 128 trials (Observational 33, Not applicable 14, Phase 4 6, Phase 3 26, Phase 2/3 2, Phase 2 26, Phase 1/2 7, Phase 1 14) 2012: 130 trials (Observational 42, Not applicable 19, Phase 4 10, Phase 3 11, Phase 2/3 3, Phase 2 18, Phase 1/2 7, Phase 1 20) 2013: 126 trials (Observational 40, Not applicable 21, Phase 4 4, Phase 3 19, Phase 2/3 4, Phase 2 11, Phase 1/2 13, Phase 1 14) 2014: 142 trials (Observational 55, Not applicable 17, Phase 4 7, Phase 3 11, Phase 2/3 4, Phase 2 25, Phase 1/2 9, Phase 1 14) 2015: 148 trials (Observational 54, Not applicable 14, Phase 4 12, Phase 3 12, Phase 2/3 6, Phase 2 23, Phase 1/2 8, Phase 1 19) 2016: 119 trials (Observational 45, Not applicable 22, Phase 4 5, Phase 3 10, Phase 2/3 4, Phase 2 15, Phase 1/2 7, Phase 1 11) 2017: 133 trials (Observational 51, Not applicable 25, Phase 4 5, Phase 3 7, Phase 2/3 2, Phase 2 12, Phase 1/2 12, Phase 1 19) 2018: 176 trials (Observational 73, Not applicable 31, Phase 4 10, Phase 3 21, Phase 2/3 3, Phase 2 21, Phase 1/2 9, Phase 1 8) 2019: 219 trials (Observational 86, Not applicable 47, Phase 4 9, Phase 3 18, Phase 2/3 4, Phase 2 19, Phase 1/2 17, Phase 1 19) 2020: 163 trials (Observational 71, Not applicable 17, Phase 4 9, Phase 3 14, Phase 2/3 3, Phase 2 18, Phase 1/2 12, Phase 1 19) 2021: 217 trials (Observational 89, Not applicable 42, Phase 4 11, Phase 3 22, Phase 2/3 2, Phase 2 11, Phase 1/2 22, Phase 1 18) 2022: 170 trials (Observational 66, Not applicable 40, Phase 4 5, Phase 3 19, Phase 2/3 1, Phase 2 11, Phase 1/2 15, Phase 1 13) 2023: 204 trials (Observational 78, Not applicable 44, Phase 4 7, Phase 3 21, Phase 2/3 5, Phase 2 14, Phase 1/2 16, Phase 1 19) 2024: 191 trials (Observational 68, Not applicable 49, Phase 4 6, Phase 3 18, Phase 2/3 4, Phase 2 11, Phase 1/2 12, Phase 1 23) 2025: 159 trials (Observational 57, Not applicable 40, Phase 4 8, Phase 3 16, Phase 2/3 2, Phase 2 21, Phase 1/2 8, Phase 1 7)

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
2026 (partial year) 173
2025 159
2024 191
2023 204
2022 170
2021 217
2020 163
2019 219
2018 176
2017 133

Showing 10 of 37 earlier years.

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Forecast of the full-year count, planned starts included, not rows of this table: about 190 trials starting in 2026 and about 180 in 2027, the average of the 24 months through September, counted as registered and carried forward. The rows of this table count trials registered so far with a start date in the year, planned starts included; the forecast looks ahead to the count for the whole year, so it is not the same measure. In backtests on conditions of this size, forecasts made part-way through the year were typically off by about 13 percent and ran about 12 percent low against the count later registered; forecasts made before the year began were off by about 19 percent and ran about 17 percent low against the count later registered, and had about the same error as repeating last year's count. These figures rest on a few years of history (target years from 2018 to 2025, varying by figure), place each condition as it is mapped today rather than as it was then, and score against a count for the newest year that was still being revised. Only condition series were scored.

Prediction, not a registry value: median of 36 months from start to primary completion across 262 trials still running at the 2026-10-09 snapshot; registered median of 24 months across 1,963 trials with a primary completion typed Actual. Source: ClinicalTrials.gov / AACT (CTTI), public domain.

What phase are Metabolism, Inborn Errors trials in? (9)

Shown in this order: phase order.

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Trials by phase
Phase Trials
Phase 1 347
Phase 1/2 225
Phase 2 414
Phase 2/3 75
Phase 3 373
Phase 4 175
Not applicable 568
Observational 1,195
Expanded access 45

How many Metabolism, Inborn Errors trials are recruiting? (12)

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 128
Recruiting 484
Enrolling by invitation 47
Active, not recruiting 162
Available 16

Showing 5 of 12 statuses.

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

Which lead sponsors run the most Metabolism, Inborn Errors trials? (14)

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
Genzyme, a Sanofi Company 79
BioMarin Pharmaceutical 60
Shire 55
Alexion Pharmaceuticals, Inc. 51
Amicus Therapeutics 38

Showing 5 of 14 sponsors.

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Which drugs are being tested for Metabolism, Inborn Errors? (10)

Shown in this order: most trials first. One row per drug, matched to a single molecule under all its names, ranked by number of trials.

Drugs tested
Drug Trials
Ganciclovir 42
ALGLUCOSIDASE ALFA 28
REPLAGAL 20
Migalastat 20
AGALSIDASE BETA (GZ419828) 20

Showing 5 of 10 drugs.

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Interventions as named in the registry (5)

Shown in this order: most trials first.

Interventions as named in the registry
Drug Trials
Febuxostat IR 42
Allopurinol Pill 39
saproterin dihydrochloride 38
Colchicines 28
HD- Methotrexate (MTX) 14

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 serious adverse events do Metabolism, Inborn Errors trials report? (10)

Shown in this order: most subjects affected first. Subjects affected summed across trials, a cross-trial signal, not a rate.

Serious adverse events in this condition's trials
Adverse event Subjects affected Trials
Cardiac failure 724 35
Pneumonia 526 115
Atrial fibrillation 368 47
Cardiac failure congestive 324 34
Acute kidney injury 282 30

Showing 5 of 10 adverse events.

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Which publications cover Metabolism, Inborn Errors? (123)

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

Publications
Publication Journal Year Major topic
Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia. Molecular genetics and metabolism 2025 Yes
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach. The Journal of pediatrics 2023 Yes
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. Annals of laboratory medicine 2023 Yes
Efficacy of AAV9-mediated SGPL1 gene transfer in a mouse model of S1P lyase insufficiency syndrome. JCI insight 2021 Yes
Are All Primary Immunodeficiency Disorders Inborn Errors of Immunity? Frontiers in immunology 2021 Yes

Showing 5 of 123 publications.

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Prevalence (1)

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
Rare inborn error of metabolism Prevalence at birth 1-9 / 100 000 Germany Not stated Unspecified

Sub-conditions in MeSH (15)

MeSH descendants one level down with at least one trial, most trials first.

+5 more sub-conditions

Not on this page

Not measured: delivery record.

Checked, with nothing recorded for this condition: rare-disease identity.

Browse all condition evidence pages