Skip to content
Clinical Trials – home

Rare diseases

Investigational molecules

Locations

Our offerNewsroom

Therapeutic area

Congenital, familial and genetic disorders – page 56

  • 803 clinical trials
  • 311 recruiting
  • 375 conditions
  • 27 countries

Conditions in this area

375 conditions with trials, the busiest first

Duchenne muscular dystrophy28Factor VIII deficiency25Sickle cell disease25Cystic fibrosis24Hereditary angioedema22Hypertrophic cardiomyopathy17Spinal muscular atrophy17Type IIa hyperlipidaemia15Glycogen storage disease type II14Factor IX deficiency13Huntington's disease13Sickle cell anaemia13Congenital cystic kidney disease12Myotonic dystrophy12Non-small cell lung cancer12Osteochondrodysplasia12Adrenogenital syndrome11Alpha-1 antitrypsin deficiency11K-ras gene mutation11Retinitis pigmentosa11Severe myoclonic epilepsy of infancy11Thalassaemia11Epidermolysis bullosa10Fabry's disease10+351

Clinical trials in Congenital, familial and genetic disorders

803 trials across Europe, recruiting first

Type of trial
Recruitment status
Quick filters

803 clinical trials

Congenital cystic kidney disease

Not recruiting

Study on the Effects of Amiloride and Sodium Chloride on Vascular Stiffness in Patients with Polycystic Kidney Disease

Registered drug
Countries:The NetherlandsThe Netherlands
  • Participants:18–64 years · 65+ years
  • Substances:Amiloride
  • Sponsor:Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

Adrenogenital syndrome

Not recruiting

Study on the Safety and Effectiveness of Crinecerfont for Children with Classic Congenital Adrenal Hyperplasia

Investigational
Countries:BelgiumBelgium
  • Participants:0–17 years
  • Substances:Crinecerfont
  • Sponsor:Neurocrine Biosciences Inc.

Glycogen storage disease type I

Not recruiting

Study on the Safety and Effects of mRNA-3745 for Patients with Glycogen Storage Disease Type 1a (GSD1a)

Registered drugNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years
  • Substances:Codeine Phosphate
  • Sponsor:Moderna Inc.

Fatty acid oxidation disorder

Not recruiting

Study on the Effects of Triheptanoin and Medium-chain Triglycerides in Children with Long-chain Fatty Acid Oxidation Disorders

Registered drugNo placebo
Countries:CzechiaCzechia
  • Participants:0–17 years
  • Substances:Doconexent
  • Sponsor:Ultragenyx Pharmaceutical Inc.

Corneal dystrophy

Not recruiting

Study on the Safety and Effectiveness of Ripasudil Eye Drops for Patients with Fuchs Endothelial Corneal Dystrophy After Descemetorhexis

Investigational
Countries:DenmarkDenmark
  • Participants:18–64 years · 65+ years
  • Substances:Ripasudil
  • Sponsor:Kowa Research Institute Inc.

Alexander disease

Not recruiting

Study of ION373 Given by Spinal Injection for Patients with Alexander Disease

Investigational
Countries:ItalyItaly
  • Participants:0–17 years · 18–64 years
  • Substances:2'-O-(2-Methoxyethyl)-D-Ribose Antisense Oligonucleotide Targeting Glial Fibrillary Acidic Protein Messenger Ribonucleic Acid
  • Sponsor:Ionis Pharmaceuticals Inc.

Methylmalonic acidaemia

Not recruiting

Study on mRNA-3705 for Patients with Methylmalonic Acidemia Due to Methylmalonyl-CoA Mutase Deficiency

Investigational
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years
  • Substances:Modified Mrna Encoding Human Methylmalonyl-Coenzyme A Mutase Containing A Polymorphism At Position 671
  • Sponsor:Moderna Inc.

Osteochondrodysplasia

Not recruiting

Study on Long-Term Safety and Effects of Vosoritide in Children with Achondroplasia

Registered drugNo placebo
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:Vosoritide
  • Sponsor:Biomarin Pharmaceutical Inc.

Von Willebrand's disease

Not recruiting

Study on the Effectiveness and Safety of Vonicog Alfa with or without Octocog Alfa for Children with Severe von Willebrand Disease Experiencing Bleeding or Undergoing Surgery

Registered drugNo placebo
Countries:AustriaAustria
  • Participants:0–17 years
  • Substances:Octocog Alfa
  • Sponsor:Baxalta Innovations GmbH

Osteogenesis imperfecta

Not recruiting

Study on Setrusumab for Patients with Osteogenesis Imperfecta (Brittle Bone Disease)

Investigational
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years
  • Substances:Setrusumab
  • Sponsor:Ultragenyx Pharmaceutical Inc.

Propionic acidaemia

Not recruiting

Study on the Safety and Effectiveness of mRNA-3927 for Patients with Propionic Acidemia

Registered drugNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years
  • Substances:Codeine Phosphate
  • Sponsor:Moderna Inc.

Study on the Safety and Effectiveness of SRP-9003 and Prednisone for Patients with Limb-Girdle Muscular Dystrophy Type 2E/R4

Not recruiting
Registered drugNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Prednisone
  • Sponsor:Sarepta Therapeutics Inc.

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.