Corneal dystrophy
4 clinical trials1 recruiting5 countries
2 substances studiedView
Rare diseases archive
Explore rare diseases studied in clinical trials – page 10
619 rare diseases in the catalogue3 138 linked trialsUpdated today
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
Blood and lymphatic system disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
164Active trials · 20% of the top 10
- 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.
A–Z
619 rare diseases
Desmoplastic small round cell tumour
4 clinical trials3 recruiting3 countries1 open to children
3 substances studiedView
3 recruiting1 open to children
Desmoplastic small round cell tumour
Gastrointestinal disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 3 countries
- Substances:LurbinectedinPasireotide+1 more
Encephalitis autoimmune
4 clinical trials3 recruiting9 countries
5 substances studiedView
3 recruiting
Encephalitis autoimmune
Immune system disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 9 countries
- Substances:BortezomibCetirizine+3 more
Ewing's sarcoma metastatic
4 clinical trials1 recruiting11 countries
13 substances studiedView
1 recruiting
Ewing's sarcoma metastatic
Musculoskeletal and connective tissue disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 11 countries
- Substances:Anhydrous DocetaxelCarboplatin+11 more
Fragile X syndrome
4 clinical trials2 recruiting2 countries
2 substances studiedView
- 2 countries
- Substances:Cannabidiol2-[4-[3-(METHYLAMINO)-1-PHENYLPROPOXY]PHENYL]ETHANOL HYDROCHLORIDE
Gaucher's disease type III
4 clinical trialsnone recruiting6 countries2 open to children
5 substances studiedView
2 open to children
Gaucher's disease type III
Congenital, familial and genetic disordersMetabolism and nutrition disorders
- 6 countries
- Substances:Eliglustat TartrateImiglucerase+3 more
Glycogen storage disease type I
4 clinical trials1 recruiting7 countries
10 substances studiedView
1 recruiting
Glycogen storage disease type I
Congenital, familial and genetic disordersHepatobiliary disorders
- 7 countries
- Substances:FexofenadineIbuprofen Lysine+8 more
Growth hormone deficiency
4 clinical trials2 recruiting9 countries4 open to children
3 substances studiedView
2 recruiting4 open to children
Growth hormone deficiency
Endocrine disordersMusculoskeletal and connective tissue disorders
- 9 countries
- Substances:Ibutamoren MesilateSomapacitan+1 more
Haemophilia
4 clinical trials1 recruiting11 countries2 open to children
7 substances studiedView
1 recruiting2 open to children
Haemophilia
Blood and lymphatic system disordersCongenital, familial and genetic disorders
- 11 countries
- Substances:FitusiranHuman Plasma Protein+5 more
Haemophilia A without inhibitors
4 clinical trials1 recruiting14 countries1 open to children
2 substances studiedView
1 recruiting1 open to children
Haemophilia A without inhibitors
Blood and lymphatic system disordersCongenital, familial and genetic disorders
- 14 countries
- Substances:BortezomibEmicizumab
Hepato-lenticular degeneration
4 clinical trials2 recruiting7 countries
5 substances studiedView
- 7 countries
- Substances:EculizumabAdeno-Associated Viral Vector Serotype 3B Encoding Shortened Human Atp7B+3 more
Hereditary ataxia
4 clinical trials1 recruiting6 countries
3 substances studiedView
1 recruiting
Hereditary ataxia
Congenital, familial and genetic disordersGeneral disorders and administration site conditions
- 6 countries
- Substances:FampridineVo659+1 more
Hereditary haemorrhagic telangiectasia
4 clinical trialsnone recruiting9 countries
2 substances studiedView
Hereditary haemorrhagic telangiectasia
Congenital, familial and genetic disordersGastrointestinal disorders
- 9 countries
- Substances:NintedanibRNA, (UM-SP-(2′-DEOXY-2′-FLUORO)A-SP-GM-AM-AM-(2′-DEOXY-2′-FLUORO)A-CM-UM-CM-AM-UM-AM-GM-(2′-DEOXY-2′-FLUORO)C-GM-(2′-DEOXY-2′-FLUORO)A-UM-UM-GM-CM-AM-SP-CM-SP-AM), COMPLEX WITH RNA (UM-SP-GM-SP-CM-AM-AM-UM-(2′-DEOXY-2′-FLUORO)C-GM-(2′-DEOXY-2′-FLUORO)C-(2′-DEOXY-2′-FLUORO)U-(2′-DEOXY-2′-FLUORO)A-UM-GM-AM-GM-UM-UM-UM-CM-UM-AM) 3′-[[(2S,4R)-1-[29-[[2-(ACETYLAMINO)-2-DEOXY-Β-D-GALACTOPYRANOSYL]OXY]-14,14-BIS[[3-[[3-[[5-[[2-(ACETYLAMINO)-2-DEOXY-Β-D-GALACTOPYRANOSYL]OXY]-1-OXOPENTYL]AMINO]PROPYL]AMINO]-3-OXOPROPOXY]METHYL]-1,12,19,25-TETRAOXO-16-OXA-13,20,24-TRIAZANONACOS-1-YL]-4-HYDROXY-2-PYRROLIDINYL]METHYL HYDROGEN PHOSPHATE] (1:1)
Hereditary neuropathic amyloidosis
4 clinical trials2 recruiting10 countries
6 substances studiedView
2 recruiting
Hereditary neuropathic amyloidosis
Congenital, familial and genetic disordersImmune system disorders
- 10 countries
- Substances:EplontersenPatisiran+4 more
Hyperchylomicronaemia
4 clinical trials1 recruiting19 countries
1 substance studiedView
1 recruiting
Hyperchylomicronaemia
Congenital, familial and genetic disordersMetabolism and nutrition disorders
- 19 countries
- Substances:Isis 678354 Sodium Salt
Leiomyosarcoma
4 clinical trials3 recruiting10 countries
8 substances studiedView
3 recruiting
Leiomyosarcoma
Musculoskeletal and connective tissue disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 10 countries
- Substances:DacarbazineEribulin+6 more
MELAS syndrome
4 clinical trials1 recruiting5 countries
3 substances studiedView
1 recruiting
MELAS syndrome
Congenital, familial and genetic disordersMetabolism and nutrition disorders
- 5 countries
- Substances:NipocalimabZagociguat+1 more
Mucopolysaccharidosis III
4 clinical trials2 recruiting2 countries4 open to children
2 substances studiedView
2 recruiting4 open to children
Mucopolysaccharidosis III
Congenital, familial and genetic disordersMetabolism and nutrition disorders
Netherton's syndrome
4 clinical trials1 recruiting12 countries
3 substances studiedView
1 recruiting
Netherton's syndrome
Congenital, familial and genetic disordersPregnancy, puerperium and perinatal conditions
- 12 countries
- Substances:Ds-2325ASpesolimab+1 more
Neuroendocrine carcinoma of the skin
4 clinical trials1 recruiting3 countries
4 substances studiedView
1 recruiting
Neuroendocrine carcinoma of the skin
Endocrine disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
Neuroendocrine tumour of the lung
4 clinical trials3 recruiting5 countries
4 substances studiedView
3 recruiting
Neuroendocrine tumour of the lung
Endocrine disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 5 countries
- Substances:L-Arginine HydrochlorideL-Lysine Hydrochloride+2 more
Nodal marginal zone B-cell lymphoma
4 clinical trials1 recruiting6 countries
6 substances studiedView
1 recruiting
Nodal marginal zone B-cell lymphoma
Blood and lymphatic system disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 6 countries
- Substances:EpcoritamabObinutuzumab+4 more
Non-Hodgkin's lymphoma refractory
4 clinical trials1 recruiting6 countries
9 substances studiedView
1 recruiting
Non-Hodgkin's lymphoma refractory
Blood and lymphatic system disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 6 countries
- Substances:ALLO-QUADCAR01-TBms-986458+7 more
Ornithine transcarbamoylase deficiency
4 clinical trials1 recruiting6 countries2 open to children
3 substances studiedView
1 recruiting2 open to children
Ornithine transcarbamoylase deficiency
Congenital, familial and genetic disordersMetabolism and nutrition disorders
- 6 countries
- Substances:Adeno-Associated Virus Serotype Rh79 Containing The Human Otc GeneAvalotcagene Ontaparvovec+1 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.