Skip to content
Clinical Trials – home

Rare diseases

Investigational molecules

Locations

Our offerNewsroom

Therapeutic area

Congenital, familial and genetic disorders – page 54

  • 796 clinical trials
  • 308 recruiting
  • 374 conditions
  • 27 countries

Conditions in this area

374 conditions with trials, the busiest first

Duchenne muscular dystrophy28Factor VIII deficiency25Sickle cell disease25Cystic fibrosis24Hereditary angioedema22Spinal muscular atrophy17Hypertrophic cardiomyopathy16Type IIa hyperlipidaemia15Glycogen storage disease type II14Factor IX deficiency13Sickle cell anaemia13Congenital cystic kidney disease12Huntington's disease12Myotonic dystrophy12Non-small cell lung cancer12Osteochondrodysplasia12Adrenogenital syndrome11Alpha-1 antitrypsin deficiency11K-ras gene mutation11Retinitis pigmentosa11Severe myoclonic epilepsy of infancy11Thalassaemia11Fabry's disease10Hereditary angioedema with C1 esterase inhibitor deficiency10+350

Clinical trials in Congenital, familial and genetic disorders

796 trials across Europe, recruiting first

Type of trial
Recruitment status
Quick filters

796 clinical trials

Duchenne muscular dystrophy gene carrier

Not recruiting
InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years
  • Substances:Vesleteplirsen
  • Sponsor:Sarepta Therapeutics Inc.

Huntington's disease

Not recruiting
Investigational
Countries:AustriaAustria
  • Participants:18–64 years · 65+ years
  • Substances:Ptc518
  • Sponsor:PTC Therapeutics Inc.

Cerebral palsy+1

Not recruiting
Registered drug
Countries:LatviaLatvia
  • Participants:0–17 years
  • Substances:Clostridium Botulinum Neurotoxin Type A (150Kd), Free Of Complexing Proteins
  • Sponsor:Merz Pharmaceuticals GmbH

Tuberous sclerosis complex

Not recruiting
Registered drugNo placebo
Countries:PolandPoland
  • Participants:0–17 years · 18–64 years
  • Substances:Cannabidiol
  • Sponsor:Jazz Pharmaceuticals Research UK Limited

Neurofibromatosis

Not recruiting
Registered drugNo placebo
Countries:GermanyGermany
  • Participants:0–17 years
  • Substances:Selumetinib
  • Sponsor:AstraZeneca AB

Hereditary angioedema

Not recruiting
Investigational
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Lonvoguran
  • Sponsor:Intellia Therapeutics Inc.

Fibrodysplasia ossificans progressiva

Not recruiting
Investigational
Countries:FinlandFinland
  • Participants:18–64 years · 65+ years
  • Substances:Garetosmab
  • Sponsor:Regeneron Pharmaceuticals Inc.

Stargardt's disease

Not recruiting
Investigational
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years
  • Substances:Tinlarebant
  • Sponsor:Belite Bio Inc.

Niemann-Pick disease

Not recruiting
Registered drugNo placebo
Countries:SpainSpain
  • Participants:18–64 years
  • Substances:Aprepitant
  • Sponsor:Bellvitge University Hospital

Glycogen storage disease type I

Not recruiting
Registered drug
Countries:DenmarkDenmark
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Prednisolone
  • Sponsor:Ultragenyx Pharmaceutical Inc.

Haemophilia

Not recruiting
Registered drugNo placebo
Countries:DenmarkDenmark
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Fitusiran
  • Sponsor:Genzyme Corp.

Metachromatic leukodystrophy

Not recruiting
Registered drugNo placebo
Countries:ItalyItaly
  • Participants:0–17 years
  • Substances:Atidarsagene Autotemcel
  • Sponsor:Orchard Therapeutics (Europe) Limited

Substances studied in this area

The therapies tested most often in Congenital, familial and genetic disorders trials.

Sirolimus21 clinical trialsSodium Chloride21 clinical trialsPrednisolone12 clinical trialsPlerixafor11 clinical trialsBusulfan10 clinical trialsIvacaftor9 clinical trialsMitapivat9 clinical trialsParacetamol8 clinical trialsTezacaftor8 clinical trials
Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

Tell us about your condition – we search every trial in Europe and connect you with the right site.