Diffuse cutaneous systemic sclerosis
diseaseOn this page
Also known as DcSScdiffuse cutaneous systemic sclerodermadSScprogressive cutaneous systemic sclerodermaprogressive cutaneous systemic sclerosis
Summary
Diffuse cutaneous systemic sclerosis (MONDO:0016356) is a disease and 32 clinical trials. Top therapeutic interventions include belumosudil, brentuximab vedotin, and abatacept. A subtype of systemic sclerosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 100 000 (Taiwan, Province of China) [Orphanet-validated]
- Phenotypes (HPO): 26
- Clinical trials: 32
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.5 | Taiwan, Province of China | Validated |
| Point prevalence | 1-9 / 100 000 | 3.8 | Taiwan, Province of China | Not yet validated |
Signs & symptoms
Clinical features (HPO)
26 HPO clinical features (Orphanet curated; top 26 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000951 | Abnormality of the skin | Very frequent (80-99%) |
| HP:0002020 | Gastroesophageal reflux | Very frequent (80-99%) |
| HP:0002094 | Dyspnea | Very frequent (80-99%) |
| HP:0002113 | Pulmonary infiltrates | Very frequent (80-99%) |
| HP:0002960 | Autoimmunity | Very frequent (80-99%) |
| HP:0100520 | Oliguria | Very frequent (80-99%) |
| HP:0100958 | Narrow foramen obturatorium | Very frequent (80-99%) |
| HP:0000217 | Xerostomia | Frequent (30-79%) |
| HP:0000670 | Carious teeth | Frequent (30-79%) |
| HP:0001324 | Muscle weakness | Frequent (30-79%) |
| HP:0001369 | Arthritis | Frequent (30-79%) |
| HP:0001371 | Flexion contracture | Frequent (30-79%) |
| HP:0002015 | Dysphagia | Frequent (30-79%) |
| HP:0002024 | Malabsorption | Frequent (30-79%) |
| HP:0002206 | Pulmonary fibrosis | Frequent (30-79%) |
| HP:0002797 | Osteolysis | Frequent (30-79%) |
| HP:0002829 | Arthralgia | Frequent (30-79%) |
| HP:0030016 | Dyspareunia | Frequent (30-79%) |
| HP:0100585 | Telangiectasia of the skin | Frequent (30-79%) |
| HP:0200042 | Skin ulcer | Frequent (30-79%) |
| HP:0000083 | Renal insufficiency | Occasional (5-29%) |
| HP:0001635 | Congestive heart failure | Occasional (5-29%) |
| HP:0002017 | Nausea and vomiting | Occasional (5-29%) |
| HP:0002092 | Pulmonary arterial hypertension | Occasional (5-29%) |
| HP:0030142 | Abnormal bowel sounds | Occasional (5-29%) |
| HP:0100735 | Hypertensive crisis | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | diffuse cutaneous systemic sclerosis |
| Mondo ID | MONDO:0016356 |
| Orphanet | 220393 |
| NCIT | C116791 |
| GARD | 0009751 |
| Is cancer (heuristic) | no |
Also known as: DcSSc · diffuse cutaneous systemic scleroderma · dSSc · progressive cutaneous systemic scleroderma · progressive cutaneous systemic sclerosis
Disease family
This is a subtype of systemic sclerosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › systemic sclerosis › diffuse cutaneous systemic sclerosis
Related subtypes (5): pulmonary systemic sclerosis, diffuse scleroderma, scleroderma, familial progressive, limited cutaneous systemic sclerosis, limited systemic sclerosis
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 32.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 19 |
| PHASE1 | 6 |
| PHASE1/PHASE2 | 3 |
| PHASE3 | 2 |
| Not specified | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06936215 | PHASE3 | RECRUITING | Safety and Efficacy of Baricitinib on Skin Tightening in Diffuse Cutaneous Systemic Sclerosis: A Comparative Study With Methotrexate |
| NCT03398837 | PHASE3 | TERMINATED | Trial to Evaluate Efficacy and Safety of Lenabasum in Diffuse Cutaneous Systemic Sclerosis |
| NCT04986605 | PHASE2 | NOT_YET_RECRUITING | Extracorporeal Photopheresis in Early Diffuse Cutaneous Systemic Sclerosis |
| NCT05149768 | PHASE2 | RECRUITING | Open Label Extension Study of Brentuximab Vedotin in Early dcSSc |
| NCT05270668 | PHASE2 | ACTIVE_NOT_RECRUITING | Phase 2 Safety and Efficacy Study of Tulisokibart (MK-7240/PRA023) in Subjects With Systemic Sclerosis Associated With Interstitial Lung Disease (SSc-ILD) (MK-7240-007) |
| NCT06375005 | PHASE2 | RECRUITING | Efficacy and Safety of Telitacicept in the Treatment of Systemic Sclerosis |
| NCT06470048 | PHASE2 | RECRUITING | A Clinical Study to Evaluate Ianalumab in Participants With Diffuse Cutaneous Systemic Sclerosis |
| NCT07287670 | PHASE2 | RECRUITING | EncompaSSc: Evaluation of MTX-474 in Participants With Diffuse Cutaneous Systemic Sclerosis (dcSSc) |
| NCT07473154 | PHASE1/PHASE2 | RECRUITING | Controlling Hyperactive Immunity With Long-lived Lymphocytes |
| NCT02161406 | PHASE2 | COMPLETED | A Study of Subcutaneous Abatacept to Treat Diffuse Cutaneous Systemic Sclerosis |
| NCT02465437 | PHASE2 | TERMINATED | Safety, Tolerability, Efficacy, and Pharmacokinetics of JBT-101 in Systemic Sclerosis |
| NCT02503644 | PHASE2 | COMPLETED | Proof-of-concept Trial of IVA337 in Diffuse Cutaneous Systemic Sclerosis |
| NCT03198689 | PHASE2 | COMPLETED | Brentuximab Vedotin in Early Diffuse Cutaneous Systemic Sclerosis |
| NCT03222492 | PHASE1/PHASE2 | COMPLETED | Brentuximab Vedotin for Systemic Sclerosis |
| NCT03919799 | PHASE2 | TERMINATED | KD025 in Subjects With Diffuse Cutaneous Systemic Sclerosis |
| NCT04137224 | PHASE2 | COMPLETED | Safety and Pharmacokinetics of IgPro20 and IgPro10 in Adults With Systemic Sclerosis (SSc) |
| NCT04138485 | PHASE2 | WITHDRAWN | Efficacy and Safety of IgPro10 in Adults With Systemic Sclerosis (SSc) |
| NCT04166552 | PHASE2 | SUSPENDED | Evaluation of Safety, Tolerability and Preliminary Efficacy of EHP-101 in Diffuse Cutaneous Systemic Sclerosis |
| NCT04440592 | PHASE2 | COMPLETED | Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Subjects With Diffuse Cutaneous Systemic Sclerosis |
| NCT04680975 | PHASE2 | TERMINATED | Efficacy and Safety of Belumosudil in Subjects With Diffuse Cutaneous Systemic Sclerosis |
| NCT04781543 | PHASE2 | TERMINATED | A Multicenter Trial to Evaluate the Efficacy, Safety, Tolerability and Pharmacokinetics of HZN-825 in Patients With Diffuse Cutaneous Systemic Sclerosis |
| NCT04837131 | PHASE2 | TERMINATED | A Study to Evaluate the Safety and Tolerability of Oral Ixazomib in Scleroderma-related Lung Disease Patients |
| NCT05098145 | PHASE1/PHASE2 | WITHDRAWN | A Safety and Efficacy Study of FCR001 in Adults With Rapidly Progressive Diffuse Cutaneous Systemic Sclerosis |
| NCT05626751 | PHASE2 | TERMINATED | An Open-label Extension Trial of HZNP-HZN-825-301 in Adult Participants With Diffuse Cutaneous Systemic Sclerosis (Diffuse Cutaneous SSc) |
| NCT06152172 | PHASE1 | ACTIVE_NOT_RECRUITING | CARTIMMUNE: Study of Patients With Autoimmune Diseases Receiving KYV-101 |
| NCT06255028 | PHASE1 | ACTIVE_NOT_RECRUITING | A Study of CNTY-101 in Participants With Refractory B Cell-mediated Autoimmune Diseases |
| NCT06708845 | PHASE1 | NOT_YET_RECRUITING | US Zamto-cel Autoimmune Diseases |
| NCT06925542 | PHASE1 | RECRUITING | A Safety and Efficacy Study Evaluating CTX112 in Adult Subjects With Refractory Autoimmune Disease |
| NCT00433186 | PHASE1 | COMPLETED | Mycophenolate Mofetil in Systemic Sclerosis |
| NCT04478994 | PHASE1 | TERMINATED | A Study With TEPEZZA in Patients With Diffuse Cutaneous Systemic Sclerosis (dcSSc) |
| NCT02339441 | Not specified | COMPLETED | Treatment Outcome in Early Diffuse Cutaneous Systemic Sclerosis |
| NCT05168215 | Not specified | UNKNOWN | Effectiveness of Bosentan Therapy in Patients With Systemic scleRosis and Progressive Digital ulcEr Disease. |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| BELUMOSUDIL | 4 | 2 |
| BRENTUXIMAB VEDOTIN | 4 | 2 |
| ABATACEPT | 4 | 1 |
| METHOXSALEN | 4 | 1 |
| TEPROTUMUMAB | 4 | 1 |
| LENABASUM | 3 | 2 |
| DERSIMELAGON | 3 | 1 |
| IANALUMAB | 3 | 1 |
| IXAZOMIB | 3 | 1 |
| LANIFIBRANOR | 3 | 1 |
| TELITACICEPT | 3 | 1 |
| TULISOKIBART | 3 | 1 |
| FIPAXALPARANT | 2 | 1 |
| CHEMBL5415229 | 0 | 2 |