Condition (MeSH)
Shwachman-Diamond Syndrome
ClinicalTrials.gov lists 21 trials for Shwachman-Diamond Syndrome or a narrower condition beneath it.
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Trials per phase
21 of the 21 trials are tagged with Shwachman-Diamond Syndrome itself; the rest are tagged with a narrower condition beneath it.
When did Shwachman-Diamond Syndrome trials start? (16)
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 1
- Phase 1/2
- Phase 2
- Phase 2/3
- Phase 3
- Not applicable
- Observational
Top of scale: 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.
| Year | Trials started |
|---|---|
| 2024 | 2 |
| 2022 | 2 |
| 2020 | 1 |
| 2017 | 1 |
| 2016 | 1 |
| 2015 | 2 |
| 2014 | 2 |
| 2013 | 2 |
| 2012 | 1 |
| 2010 | 1 |
Showing 10 of 16 earlier years.
No forecast is made for this condition: it averages 0.8 trial starts a year over the five years to September, under the 5 a year the method needs.
Recruitment duration, a model prediction: 1 trial still running at the 2026-10-09 snapshot, fewer than the 5 needed for a median. Source: ClinicalTrials.gov / AACT (CTTI), public domain.
What phase are Shwachman-Diamond Syndrome trials in? (7)
Shown in this order: phase order.
Show the trials by phase as a table
| Phase | Trials |
|---|---|
| Phase 1 | 2 |
| Phase 1/2 | 2 |
| Phase 2 | 5 |
| Phase 2/3 | 2 |
| Phase 3 | 1 |
| Not applicable | 3 |
| Observational | 6 |
How many Shwachman-Diamond Syndrome trials are recruiting? (5)
Shown in this order: the order a trial moves through, from not yet recruiting to unknown.
| Status | Trials |
|---|---|
| Recruiting | 4 |
| Active, not recruiting | 1 |
| Completed | 10 |
| Terminated | 5 |
| Unknown status | 1 |
Status as registered on ClinicalTrials.gov. Each trial is counted once.
Which lead sponsors run the most Shwachman-Diamond Syndrome 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.
| Sponsor | Trials |
|---|---|
| Bellicum Pharmaceuticals | 1 |
| Mondelēz International, Inc. | 1 |
| National Cancer Institute (NCI) | 1 |
| National Center for Research Resources (NCRR) | 1 |
| X4 Pharmaceuticals | 1 |
Which drugs are being tested for Shwachman-Diamond Syndrome? (4)
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.
| Drug | Trials |
|---|---|
| Cytoxan | 2 |
| Treosulfan | 2 |
| Busulfan | 2 |
| Melphalan | 2 |
Interventions as named in the registry (11)
Shown in this order: most trials first.
| Drug | Trials |
|---|---|
| SQ Fludarabine | 6 |
| IR Tacrolimus | 4 |
| Peripheral blood stem cell transplantation | 4 |
| Total Body Irradiation | 4 |
| Thymoglobulin [Anti-Thymocyte Globulin (Rabbit)] | 3 |
Showing 5 of 11 interventions.
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 Shwachman-Diamond Syndrome trials report? (10)
Shown in this order: most subjects affected first. Subjects affected summed across trials, a cross-trial signal, not a rate.
| Adverse event | Subjects affected | Trials |
|---|---|---|
| Hypoxia: Decreased O2 sat requiring support | 4 | 1 |
| Bone marrow graft failure | 3 | 1 |
| Death | 3 | 1 |
| Graft versus host disease | 3 | 1 |
| Acute graft versus host disease in intestine | 2 | 1 |
Showing 5 of 10 adverse events.
Which publications cover Shwachman-Diamond Syndrome? (11)
Shown in this order: major-topic papers first, then newest, then most linked to trials.
| Publication | Journal | Year | Major topic |
|---|---|---|---|
| Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features. | Pediatric research | 2022 | No |
| Further evidence for the involvement of <i>EFL1</i> in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. | Cold Spring Harbor molecular case studies | 2018 | No |
| A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism. | Journal of pediatric endocrinology & metabolism : JPEM | 2016 | No |
| Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes. | Journal of genetic counseling | 2015 | No |
| Immune status of patients with inherited bone marrow failure syndromes. | American journal of hematology | 2015 | No |
Showing 5 of 11 publications.
Prevalence (14)
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.
| Orphanet disease | Type | Class | Geography | Jurisdiction | Mapping relation |
|---|---|---|---|---|---|
| Shwachman-Diamond syndrome | Prevalence at birth | 1-9 / 1 000 000 | United Kingdom | GB | Exact |
| Shwachman-Diamond syndrome | Prevalence at birth | 1-9 / 1 000 000 | United Kingdom | GB | Exact |
| Shwachman-Diamond syndrome | Prevalence at birth | 1-9 / 1 000 000 | Puerto rico | Not stated | Exact |
| Shwachman-Diamond syndrome | Prevalence at birth | 1-9 / 1 000 000 | Worldwide | Not stated | Exact |
| Shwachman-Diamond syndrome | Prevalence at birth | 1-9 / 1 000 000 | Italy | Not stated | Exact |
Showing 5 of 14 prevalence observations.
Rare-disease identity (2)
Shown in this order: exact, broader, narrower, other.
| Orphanet disease | ORPHA code | Relation | Source |
|---|---|---|---|
| Shwachman-Diamond syndrome | 811 | Exact | Orphanet Rare Disease Ontology (ORDO) |
| Shwachman-Diamond syndrome | 811 | Exact | Orphadata Science knowledge files, Product 1 |
Not on this page
Not measured: delivery record.
Checked, with nothing recorded for this condition: sub-conditions in mesh.