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Condition (MeSH)

Chromosome Disorders

ClinicalTrials.gov lists 957 trials for Chromosome Disorders or a narrower condition beneath it. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) has the most among industry and government lead sponsors, with 15.

MeSH D025063 Congenital / Hereditary / Neonatal C16 Listed by Orphanet as a rare disease
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Phase 1 Phase 1 41 Phase 1/2 Phase 1/2 19 Phase 2 Phase 2 125 Phase 2/3 Phase 2/3 17 Phase 3 Phase 3 68 Phase 4 Phase 4 36 Not applicable Not applicable 322 Observational Observational 327 Phase 1 Phase 1 41 Phase 1/2 Phase 1/2 19 Phase 2 Phase 2 125 Phase 2/3 Phase 2/3 17 Phase 3 Phase 3 68 Phase 4 Phase 4 36 Not applicable Not applicable 322 Observational Observational 327

Trials per phase

1 more section with rows

13 of the 957 trials are tagged with Chromosome Disorders itself; the rest are tagged with a narrower condition beneath it.

Get the Chromosome Disorders 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 Chromosome Disorders trials start? (36)

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. 1 trial is 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

Top of scale: 75

1990: 2 trials (Not applicable 1, Phase 2 1) 1991: 1 trials (Phase 2 1) 1992: 3 trials (Phase 4 1, Phase 3 1, Phase 2 1) 1994: 1 trials (Observational 1) 1995: 2 trials (Observational 2) 1996: 2 trials (Not applicable 1, Phase 4 1) 1997: 1 trials (Observational 1) 1998: 3 trials (Observational 1, Not applicable 1, Phase 3 1) 1999: 4 trials (Observational 2, Phase 3 1, Phase 2 1) 2000: 6 trials (Observational 3, Phase 3 2, Phase 2/3 1) 2001: 7 trials (Observational 3, Not applicable 1, Phase 4 1, Phase 3 1, Phase 2 1) 2002: 6 trials (Observational 2, Not applicable 1, Phase 3 1, Phase 2 1, Phase 1 1) 2003: 2 trials (Observational 2) 2004: 9 trials (Observational 4, Not applicable 2, Phase 3 2, Phase 2 1) 2005: 19 trials (Observational 6, Not applicable 4, Phase 4 3, Phase 3 2, Phase 2 1, Phase 1/2 1, Phase 1 2) 2006: 19 trials (Observational 11, Not applicable 6, Phase 3 1, Phase 2 1) 2007: 20 trials (Observational 9, Not applicable 5, Phase 3 1, Phase 2 3, Phase 1 2) 2008: 20 trials (Observational 8, Not applicable 3, Phase 4 1, Phase 3 2, Phase 2 3, Phase 1/2 2, Phase 1 1) 2009: 35 trials (Observational 17, Not applicable 2, Phase 4 3, Phase 3 1, Phase 2/3 1, Phase 2 6, Phase 1/2 1, Phase 1 4) 2010: 26 trials (Observational 7, Not applicable 11, Phase 4 1, Phase 3 1, Phase 2 5, Phase 1 1) 2011: 25 trials (Observational 10, Not applicable 2, Phase 4 1, Phase 3 4, Phase 2/3 2, Phase 2 3, Phase 1/2 1, Phase 1 2) 2012: 34 trials (Observational 14, Not applicable 9, Phase 4 1, Phase 3 2, Phase 2 6, Phase 1 2) 2013: 45 trials (Observational 19, Not applicable 14, Phase 3 2, Phase 2 6, Phase 1/2 2, Phase 1 2) 2014: 35 trials (Observational 13, Not applicable 8, Phase 3 2, Phase 2/3 2, Phase 2 8, Phase 1/2 1, Phase 1 1) 2015: 32 trials (Observational 14, Not applicable 8, Phase 4 1, Phase 3 1, Phase 2/3 1, Phase 2 3, Phase 1/2 1, Phase 1 3) 2016: 43 trials (Observational 14, Not applicable 14, Phase 4 3, Phase 3 1, Phase 2 5, Phase 1 6) 2017: 34 trials (Observational 11, Not applicable 14, Phase 4 3, Phase 2 4, Phase 1/2 1, Phase 1 1) 2018: 56 trials (Observational 17, Not applicable 22, Phase 3 5, Phase 2/3 3, Phase 2 8, Phase 1 1) 2019: 41 trials (Observational 15, Not applicable 18, Phase 4 1, Phase 3 3, Phase 2/3 1, Phase 2 1, Phase 1/2 1, Phase 1 1) 2020: 39 trials (Observational 11, Not applicable 14, Phase 4 2, Phase 3 1, Phase 2/3 1, Phase 2 6, Phase 1/2 3, Phase 1 1) 2021: 57 trials (Observational 24, Not applicable 18, Phase 4 5, Phase 3 3, Phase 2 4, Phase 1/2 1, Phase 1 2) 2022: 50 trials (Observational 15, Not applicable 15, Phase 4 2, Phase 3 4, Phase 2/3 3, Phase 2 8, Phase 1/2 2, Phase 1 1) 2023: 75 trials (Observational 15, Not applicable 42, Phase 3 5, Phase 2 11, Phase 1 2) 2024: 64 trials (Observational 16, Not applicable 31, Phase 4 1, Phase 3 6, Phase 2/3 1, Phase 2 6, Phase 1/2 1, Phase 1 2) 2025: 72 trials (Observational 20, Not applicable 37, Phase 4 2, Phase 3 6, Phase 2 6, Phase 1/2 1)

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) 51
2025 72
2024 64
2023 75
2022 50
2021 57
2020 39
2019 41
2018 56
2017 34

Forecast of the full-year count, planned starts included, not rows of this table: about 66 trials starting in 2026 and about 67 in 2027, the average of the 24 months through September, counted as registered and carried forward, with about 0.7 times the starts already registered for the rest of 2026 added. 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 15 percent and ran about 1 percent high against the count later registered; forecasts made before the year began were off by about 26 percent and ran about 20 percent low against the count later registered. The part-way figures are from forecasts that used a multiple fitted only on earlier years. 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 82 trials still running at the 2026-10-09 snapshot; registered median of 24 months across 583 trials with a primary completion typed Actual. Source: ClinicalTrials.gov / AACT (CTTI), public domain.

What phase are Chromosome Disorders trials in? (9)

Shown in this order: phase order.

Show the trials by phase as a table
Trials by phase
Phase Trials
Phase 1 41
Phase 1/2 19
Phase 2 125
Phase 2/3 17
Phase 3 68
Phase 4 36
Not applicable 322
Observational 327
Expanded access 2

How many Chromosome Disorders trials are recruiting? (10)

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 32
Recruiting 150
Enrolling by invitation 12
Active, not recruiting 38
Available 2

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

Which lead sponsors run the most Chromosome Disorders trials? (5)

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
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 15
Novo Nordisk A/S 14
Hoffmann-La Roche 13
National Human Genome Research Institute (NHGRI) 9
Seaside Therapeutics, Inc. 9

Which drugs are being tested for Chromosome Disorders? (3)

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
Arbaclofen 7
AFQ056 6
Estradiol 5

Interventions as named in the registry (12)

Shown in this order: most trials first.

Interventions as named in the registry
Drug Trials
somatropin AQ 33
IM Oxytocin 7
Donepezil HCI (drug) 7
Cytarabine IT 5
memantine ER 5

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 Chromosome Disorders 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
Device related infection 41 6
Sepsis 37 4
Seizure 35 10
Respiratory failure 34 8
Pneumonia 18 9

Which publications cover Chromosome Disorders? (142)

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

Sub-conditions in MeSH (19)

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

+9 more sub-conditions

Not on this page

Not measured: delivery record.

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

Browse all condition evidence pages