Pleomorphic liposarcoma
2 clinical trials1 recruiting5 countries
6 substances studiedView
1 recruiting
Pleomorphic liposarcoma
Musculoskeletal and connective tissue disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
Rare diseases archive
Explore rare diseases studied in clinical trials – page 17
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
Primary adrenal insufficiency
2 clinical trialsnone recruiting2 countries1 open to children
2 substances studiedView
1 open to children
Primary adrenal insufficiency
Endocrine disordersMetabolism and nutrition disorders
- 2 countries
- Substances:CortisoneHydrocortisone Ph. Eur.
Primitive neuroectodermal tumour
2 clinical trials1 recruiting5 countries
1 recruiting
Primitive neuroectodermal tumour
Neoplasms benign, malignant and unspecified (incl cysts and polyps)Nervous system disorders
- 5 countries
Propionic acidaemia
2 clinical trials1 recruiting4 countries
8 substances studiedView
1 recruiting
Propionic acidaemia
Congenital, familial and genetic disordersMetabolism and nutrition disorders
- 4 countries
- Substances:FamotidineIbuprofen Lysine+6 more
Pseudomyxoma peritonei
2 clinical trials2 recruiting2 countries
4 substances studiedView
2 recruiting
Pseudomyxoma peritonei
Gastrointestinal disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 2 countries
- Substances:CapecitabineMolgramostim+2 more
Pseudoxanthoma elasticum
2 clinical trialsnone recruiting3 countries
2 substances studiedView
Pseudoxanthoma elasticum
Congenital, familial and genetic disordersEye disorders
Pustular psoriasis
2 clinical trialsnone recruiting5 countries
1 substance studiedView
Pustular psoriasis
Immune system disordersSkin and subcutaneous tissue disorders
- 5 countries
- Substances:Spesolimab
Pyoderma gangrenosum
2 clinical trials1 recruiting13 countries
6 substances studiedView
1 recruiting
Pyoderma gangrenosum
Immune system disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 13 countries
- Substances:BetamethasoneCortisone Acetate+4 more
Retroperitoneal cancer
2 clinical trials1 recruiting2 countries
2 substances studiedView
1 recruiting
Retroperitoneal cancer
Gastrointestinal disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 2 countries
- Substances:BevacizumabOlaparib
Testicular germ cell cancer
2 clinical trialsnone recruiting9 countries
Testicular germ cell cancer
Neoplasms benign, malignant and unspecified (incl cysts and polyps)Reproductive system and breast disorders
- 9 countries
Thymic carcinoma
2 clinical trialsnone recruiting3 countries
2 substances studiedView
Thymic carcinoma
Blood and lymphatic system disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 3 countries
- Substances:DomvanalimabZimberelimab
Thymoma
2 clinical trialsnone recruiting4 countries
3 substances studiedView
Thymoma
Blood and lymphatic system disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 4 countries
- Substances:Calcium FolinateDomvanalimab+1 more
Tumour of ampulla of Vater
2 clinical trials2 recruiting1 country
1 substance studiedView
2 recruiting
Tumour of ampulla of Vater
Hepatobiliary disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 1 country
- Substances:Piperacillin Monohydrate
Urea cycle disorder
2 clinical trialsnone recruiting6 countries
3 substances studiedView
Urea cycle disorder
Congenital, familial and genetic disordersMetabolism and nutrition disorders
- 6 countries
- Substances:HhalpcAMMONIUM (15N) CHLORIDE+1 more
Ureteric cancer
2 clinical trials1 recruiting6 countries
5 substances studiedView
1 recruiting
Ureteric cancer
Neoplasms benign, malignant and unspecified (incl cysts and polyps)Renal and urinary disorders
- 6 countries
- Substances:PadeliporfinAdrenaline Acid Tartrate Bp+3 more
Urethral valves
2 clinical trials2 recruiting1 country2 open to children
6 substances studiedView
2 recruiting2 open to children
Urethral valves
Congenital, familial and genetic disordersRenal and urinary disorders
- 1 country
- Substances:AmoxicillinCefaclor+4 more
Usher's syndrome
2 clinical trialsnone recruiting2 countries
3 substances studiedView
Usher's syndrome
Congenital, familial and genetic disordersEar and labyrinth disorders
Uterine leiomyosarcoma
2 clinical trials2 recruiting3 countries
2 substances studiedView
2 recruiting
Uterine leiomyosarcoma
Neoplasms benign, malignant and unspecified (incl cysts and polyps)Reproductive system and breast disorders
- 3 countries
- Substances:TrabectedinTtf-Ngr
Wiskott-Aldrich syndrome
2 clinical trials2 recruiting2 countries
1 substance studiedView
2 recruiting
Wiskott-Aldrich syndrome
Blood and lymphatic system disordersCongenital, familial and genetic disorders
- 2 countries
- Substances:Etuvetidigene Autotemcel
Wolfram syndrome
2 clinical trialsnone recruiting2 countries
4 substances studiedView
Wolfram syndrome
Congenital, familial and genetic disordersEar and labyrinth disorders
- 2 countries
- Substances:RaxtozinameranSodium Valproate+2 more
Yellow fever
2 clinical trialsnone recruiting5 countries
3 substances studiedView
Yellow fever
Infections and infestationsVascular disorders
- 5 countries
- Substances:SOFOSBUVIRYELLOW FEVER VIRUS STRAIN 17D-204 (LIVE, ATTENUATED)+1 more
Acoustic neuroma
1 clinical trialnone recruiting1 country
1 substance studiedView
Acoustic neuroma
Ear and labyrinth disordersNeoplasms benign, malignant and unspecified (incl cysts and polyps)
- 1 country
- Substances:Nimodipine
Acquired haemophilia
1 clinical trialnone recruiting4 countries
Acquired haemophilia
Blood and lymphatic system disordersCongenital, familial and genetic disorders
- 4 countries
Acute graft versus host disease in liver
1 clinical trialnone recruiting4 countries
6 substances studiedView
Acute graft versus host disease in liver
Blood and lymphatic system disordersCongenital, familial and genetic disorders
- 4 countries
- Substances:PanobinostatPrednisone+4 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.