ORPHA:251365
Sickle cell S-C disease
Also known as: HbSC disease · Hemoglobin S-C disease · Sickle cell-hemoglobin C disease
Publications
685
77.1th percentile
Trials
5
Interventional, condition-specific
Researchers
1,046
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016669
- UMLS:C0019034
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
685 matched papers (321 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
5 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
685
685 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
685 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
321 in the last 10 years · high confidence · 77.1th percentile (publications denominator)
Phrase hits: 685 · MeSH hits: 0
Who's working on it?
1,046
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Connes P9 papers · 2019
UMR Inserm 665, Pointe-à-Pitre, Université des Antilles et de la Guyane, Pointe-à-Pitre, Guadeloupe, France Laboratoire ACTES (EA 3596), Département de Physiologie, Université des Antilles et de la Guyane, Pointe-à-Pitre, Guadeloupe, France Laboratory of Excellence GR-Ex «The red cell: from genesis to death», PRES Sorbonne Paris Cité, Paris, France.
Papers in Europe PMC - 02Etienne-Julan M8 papers · 2019
Inserm U665, Pointe-à-Pitre, F-97159 Guadeloupe, Université des Antilles et de la Guyane, Guadeloupe Unité Transversale de la Drépanocytose du Centre Hospitalier et Universitaire de Pointe-à-Pitre, Pointe-à-Pitre, France Centre de référence maladies rare pour la drépanocytose aux Antilles-Guyane, Centre Hospitalier et Universitaire de Pointe-à-Pitre, Pointe-à-Pitre, France.
Papers in Europe PMC - 03Rees DC7 papers · 2025
Department of Paediatric Haematology, King's College Hospital, King's College London School of Medicine, UK. david.rees2@nhs.net.
Papers in Europe PMC - 04Romana M7 papers · 2019
UMR Inserm 665, Pointe-à-Pitre, Université des Antilles et de la Guyane, Pointe-à-Pitre, Guadeloupe, France Laboratory of Excellence GR-Ex «The red cell: from genesis to death», PRES Sorbonne Paris Cité, Paris, France.
Papers in Europe PMC - 05Waltz X7 papers · 2017
Inserm 665, Université des Antilles et de la Guyane, Pointe-à-Pitre, Guadeloupe, France.
Papers in Europe PMC - 06Hardy-Dessources MD6 papers · 2017
UMR Inserm 665, Pointe-à-Pitre, Université des Antilles et de la Guyane, Pointe-à-Pitre, Guadeloupe, France Laboratory of Excellence GR-Ex «The red cell: from genesis to death», PRES Sorbonne Paris Cité, Paris, France.
Papers in Europe PMC - 07Lemonne N6 papers · 2019
Unité Transversale de la Drépanocytose, CHU de Pointe-à-Pitre, 97159 Pointe-à-Pitre, Guadeloupe.
Papers in Europe PMC - 08Mensah E6 papers · 2025
Department of Hematology, University of Ghana Medical School, Accra, Ghana.
Papers in Europe PMC - 09Olayemi E6 papers · 2026
Ghana Institute of Clinical Genetics and Department of Haematology, University of Ghana, Accra, Ghana.
Papers in Europe PMC - 10Lamarre Y5 papers · 2015
Inserm U665, Pointe-à-Pitre, F-97159 Guadeloupe, Université des Antilles et de la Guyane, Guadeloupe.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
5
interventional trials for this specific condition
5 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 11 September 2026
5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).
high confidence · 89.2th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
5 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 14 · after dedupe 14 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 14 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (14)
- isrctn·ISRCTN20012465·No longer recruiting·Pharmacokinetics study of a single bolus intravenous injection of diclofenac sodium solution administered in male and female healthy volunteers
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN25216742·Recruiting·On the way to and from school (OWS): active mobility interventions for the promotion of physical activity and mental well-being in adolescents in Bogotá, Colombia and Maputo, Mozambique
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN15648510·No longer recruiting·Long-term effects of a lifestyle intervention on the health of children and teachers at cardiovascular risk in schools of disadvantaged communities in South Africa
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN84098935·No longer recruiting·Standing up for cerebral palsy
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN29534081·No longer recruiting·Effects of a school-based intervention programme on growth, health and well-being of schoolchildren in three African countries: The KaziAfya project
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN18485542·No longer recruiting·Effects of a school-based health intervention programme in Port Elizabeth, South Africa: the KaziBantu project
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN57822968·No longer recruiting·Shaping the Social: Evaluating the effect of a complex intervention to promote wellbeing and educational attainment and reduce substance use among students in Danish vocational schools
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN11666034·No longer recruiting·A school and community trial for improving 13-year-olds' fruit and vegetable consumption: the Boost study
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN92649087·No longer recruiting·Health promotion and preventive physiotherapy program for teachers in compulsory schools
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN28828586·No longer recruiting·N-AcetylCysteine in the treatment of Sickle Cell Disease
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN74336585·No longer recruiting·Patient controlled analgesia (PCA) versus continuous infusion (CI) of morphine during vaso-occlusive crisis in sickle cell disease (SCD): a randomised controlled trial
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN22102770·Recruiting·A study to test the safety and effects of a New Drug (LAE103) in healthy people who are overweight or obese, and in healthy postmenopausal women. The study also looks at how LAE103 works when taken alone or together with another drug (LAE102).
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN41421863·No longer recruiting·Is intravenous iron and darbepoetin more effective than oral iron in reducing blood transfusion requirements for patients undergoing cardiac surgery?
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN61893718·No longer recruiting·Microarray Analysis in breast cancer to Taylor Adjuvant Drugs Or Regimens, a randomized phase III study
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Sickle cell S-C disease — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Sickle cell S-C disease" OR "HbSC disease" OR "Hemoglobin S-C disease" OR "Sickle cell-hemoglobin C disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sickle cell S-C disease" OR "HbSC disease" OR "Hemoglobin S-C disease" OR "Sickle cell-hemoglobin C disease"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 5 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T10:45:22.273Z