Leukaemia
3 clinical trials1 recruiting3 countries1 open to children
7 substances studiedView
1 recruiting1 open to children
Leukaemia
Blood and lymphatic system disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
Rare diseases archive
Explore rare diseases studied in clinical trials – page 13
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
Liposarcoma
3 clinical trials2 recruiting13 countries
4 substances studiedView
2 recruiting
Liposarcoma
Musculoskeletal and connective tissue disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 13 countries
- Substances:PemigatinibRetifanlimab+2 more
Liposarcoma metastatic
3 clinical trials2 recruiting6 countries
7 substances studiedView
2 recruiting
Liposarcoma metastatic
Musculoskeletal and connective tissue disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 6 countries
- Substances:FulvestrantLetrozole+5 more
Lymphatic malformation
3 clinical trials1 recruiting7 countries
2 substances studiedView
1 recruiting
Lymphatic malformation
Blood and lymphatic system disordersCongenital, familial and genetic disorders
Marginal zone lymphoma refractory
3 clinical trials2 recruiting9 countries
7 substances studiedView
2 recruiting
Marginal zone lymphoma refractory
Blood and lymphatic system disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 9 countries
- Substances:BGB-16673Glofitamab+5 more
Medulloblastoma recurrent
3 clinical trials1 recruiting3 countries1 open to children
5 substances studiedView
1 recruiting1 open to children
Medulloblastoma recurrent
Neoplasms benign, malignant and unspecified (incl cysts and polyps)Nervous system disorders
Mitochondrial myopathy
3 clinical trials3 recruiting6 countries
4 substances studiedView
3 recruiting
Mitochondrial myopathy
Congenital, familial and genetic disordersMusculoskeletal and connective tissue disorders
- 6 countries
- Substances:DoxecitineDoxribtimine+2 more
Monogenic diabetes
3 clinical trials1 recruiting1 country
4 substances studiedView
- 1 country
- Substances:EmpagliflozinGlimepiride+2 more
Multifocal motor neuropathy
3 clinical trialsnone recruiting19 countries
3 substances studiedView
Multifocal motor neuropathy
Immune system disordersNervous system disorders
- 19 countries
- Substances:Dnth103Empasiprubart+1 more
Neonatal alloimmune thrombocytopenia
3 clinical trials2 recruiting14 countries
3 substances studiedView
2 recruiting
Neonatal alloimmune thrombocytopenia
Blood and lymphatic system disordersCongenital, familial and genetic disorders
- 14 countries
- Substances:NipocalimabAnti-(Integrin Beta-3) Human Monoclonal Antibody+1 more
Nephroblastoma
3 clinical trials2 recruiting11 countries3 open to children
6 substances studiedView
2 recruiting3 open to children
Nephroblastoma
Neoplasms benign, malignant and unspecified (incl cysts and polyps)Renal and urinary disorders
- 11 countries
- Substances:CarboplatinDactinomycin+4 more
Niemann-Pick disease
3 clinical trialsnone recruiting5 countries
4 substances studiedView
Niemann-Pick disease
Congenital, familial and genetic disordersMetabolism and nutrition disorders
- 5 countries
- Substances:AprepitantHydroxypropylbetadex+2 more
Noonan syndrome
3 clinical trialsnone recruiting16 countries2 open to children
3 substances studiedView
- 16 countries
- Substances:SomapacitanSomatropin+1 more
Ocular myasthenia
3 clinical trialsnone recruiting16 countries
2 substances studiedView
Ocular myasthenia
Eye disordersImmune system disorders
- 16 countries
- Substances:Efgartigimod AlfaRozanolixizumab
Oesophageal cancer metastatic
3 clinical trials2 recruiting15 countries
5 substances studiedView
2 recruiting
Oesophageal cancer metastatic
Gastrointestinal disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 15 countries
- Substances:FRUQUINTINIBTrastuzumab+3 more
Oropharyngeal cancer
3 clinical trialsnone recruiting3 countries
9 substances studiedView
Oropharyngeal cancer
Gastrointestinal disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 3 countries
- Substances:Barium SulfateBleomycin Sulfate+7 more
Penile squamous cell carcinoma
3 clinical trials1 recruiting2 countries
1 substance studiedView
1 recruiting
Penile squamous cell carcinoma
Neoplasms benign, malignant and unspecified (incl cysts and polyps)Reproductive system and breast disorders
- 2 countries
- Substances:Avelumab
Polycystic liver disease
3 clinical trials1 recruiting4 countries
2 substances studiedView
1 recruiting
Polycystic liver disease
Congenital, familial and genetic disordersHepatobiliary disorders
- 4 countries
- Substances:Leuprorelin AcetateOctreotide Hydrochloride
Prader-Willi syndrome
3 clinical trials1 recruiting10 countries1 open to children
1 substance studiedView
1 recruiting1 open to children
Prader-Willi syndrome
Congenital, familial and genetic disordersMetabolism and nutrition disorders
- 10 countries
- Substances:Pbf-999
Precursor B-lymphoblastic lymphoma recurrent
3 clinical trials3 recruiting11 countries
1 substance studiedView
3 recruiting
Precursor B-lymphoblastic lymphoma recurrent
Blood and lymphatic system disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 11 countries
- Substances:Trametinib
Precursor B-lymphoblastic lymphoma refractory
3 clinical trials3 recruiting11 countries
1 substance studiedView
3 recruiting
Precursor B-lymphoblastic lymphoma refractory
Blood and lymphatic system disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 11 countries
- Substances:Trametinib
Primary hyperoxaluria
3 clinical trials2 recruiting6 countries
3 substances studiedView
2 recruiting
Primary hyperoxaluria
Congenital, familial and genetic disordersMetabolism and nutrition disorders
Retinoblastoma
3 clinical trials2 recruiting1 country3 open to children
6 substances studiedView
2 recruiting3 open to children
Retinoblastoma
Eye disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 1 country
- Substances:CarboplatinCyclophosphamide+4 more
Rett syndrome
3 clinical trials2 recruiting7 countries1 open to children
3 substances studiedView
2 recruiting1 open to children
Rett syndrome
Congenital, familial and genetic disordersMetabolism and nutrition disorders
- 7 countries
- Substances:LeriglitazoneMirtazapine+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.