Explore rare diseases studied in clinical trials – page 12
Top 10 most studied rare diseases
Rare diseases with the highest number of active trials right now.
Colours show each disease's body system – lighter shades rank lower.
- Blood and lymphatic system disorders58%
- Gastrointestinal disorders20%
- Neoplasms benign, malignant and unspecified11%
- Hepatobiliary disorders11%
No. 1 most studied
Plasma cell myeloma
- recruiting now
- 50
- countries
- 25
- open to children
- 0
- substances tested
- 141
Shares are of these ten diseases' active trials together.
All rare diseases
Browse every rare disease currently studied across European trials.
619 rare diseases
Congenital myopathy
3 clinical trialsCongenital myopathy
- 5 countries
- Substances:ASP2957Salbutamol
Craniopharyngioma
3 clinical trialsCraniopharyngioma
- 4 countries
- Substances:SemaglutideTovorafenib
Cryoglobulinaemia
3 clinical trials- 1 country
- Substances:BelimumabIsatuximab+1 more
Cushing's syndrome
3 clinical trials- 10 countries
- Substances:FluasteroneOsilodrostat+1 more
Cutaneous T-cell lymphoma recurrent
3 clinical trialsCutaneous T-cell lymphoma recurrent
- 6 countries
- Substances:LacutamabMogamulizumab
Cutaneous T-cell lymphoma refractory
3 clinical trialsCutaneous T-cell lymphoma refractory
- 6 countries
- Substances:Mogamulizumab
Cystic fibrosis lung
3 clinical trialsCystic fibrosis lung
- 6 countries
- Substances:Bi 3720931Gadobutrol
Desmoid tumour
3 clinical trialsDesmoid tumour
- 7 countries
- Substances:VaregacestatVinorelbine Tartrate+2 more
Ependymoma
3 clinical trialsEpendymoma
- 13 countries
- Substances:CapecitabineCelecoxib+10 more
Erdheim-Chester disease
3 clinical trials- 1 country
- Substances:VemurafenibFludeoxyglucose (18F)+1 more
Gastric cancer stage IV
3 clinical trialsGastric cancer stage IV
- 4 countries
- Substances:Ds-3939AGallium (68Ga) Tezatabep Matraxetan
Haemophilia A with anti factor VIII
3 clinical trialsHaemophilia A with anti factor VIII
- 12 countries
- Substances:Concizumab
Hairy cell leukaemia
3 clinical trialsHairy cell leukaemia
- 7 countries
- Substances:CladribineCobimetinib+4 more
Hepatoblastoma
3 clinical trialsHepatoblastoma
- 16 countries
- Substances:CarboplatinCisplatin+14 more
Hereditary optic atrophy
3 clinical trials- 5 countries
- Substances:Nicotinamide18‐Mer Antisense Oligonucleotide Complementary To Opa1 Pre-Mrna
Hodgkin's disease refractory
3 clinical trialsHodgkin's disease refractory
- 3 countries
- Substances:Brentuximab VedotinHSP-CAR30+3 more
Hyperadrenocorticism
3 clinical trialsHyperinsulinaemic hypoglycaemia
3 clinical trials- 9 countries
- Substances:Anti-(Insulin Receptor) Human Monoclonal AntibodyPasireotide Diaspartate
Inclusion body myositis
3 clinical trialsInclusion body myositis
- 3 countries
- Substances:RuxolitinibULVIPRUBART
Indolent systemic mastocytosis
3 clinical trialsIndolent systemic mastocytosis
- 17 countries
- Substances:Avapritinib1-4-{[6-Amino-5-(4-Phenoxy-Phenyl)-Pyrimidin-4-Ylamino]-Methyl}-4-Fluoro-Piperidin-1-Yl)-Propenone+1 more
Langerhans cell sarcoma
3 clinical trials- 1 country
- Substances:VemurafenibFludeoxyglucose (18F)+1 more
Langerhans' cell histiocytosis
3 clinical trialsLangerhans' cell histiocytosis
- 1 country
- Substances:AlemtuzumabIndometacin Ph. Eur.+4 more
Leiomyosarcoma metastatic
3 clinical trialsLeiomyosarcoma metastatic
- 9 countries
- Substances:BerzosertibFilgrastim+5 more
About rare diseases in clinical trials
A disease is called rare in the EU when it affects fewer than 5 in 10 000 people. Individually uncommon, together they affect millions – and most still have no approved treatment.
Because the number of patients is small, trials in rare diseases often recruit across several countries at once. That is why a trial listed here may be worth looking at even when it runs nowhere near you.
