Skip to content
Clinical Trials – home

Rare diseases

Investigational molecules

Locations

Our offerNewsroom

Therapeutic area

Congenital, familial and genetic disorders – page 47

  • 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

Metachromatic leukodystrophy

Not recruiting

Study on Long-Term Safety and Efficacy of Cebsulfase Alfa for Children with Late Metachromatic Leukodystrophy Receiving Intrathecal Enzyme Replacement

InvestigationalNo placebo
Countries:CzechiaCzechia
  • Participants:0–17 years
  • Substances:Cebsulfase Alfa
  • Sponsor:Shire Human Genetic Therapies Inc.

EGFR gene mutation+1

Not recruiting

Study on Amivantamab, Lazertinib, and Bevacizumab for Patients with Advanced EGFR-Mutant Non-Small Cell Lung Cancer After Treatment Progression

Registered drugNo placebo
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Amivantamab
  • Sponsor:ETOP IBCSG Partners Foundation

Corneal dystrophy

Not recruiting

Study on the Effectiveness and Safety of STN1010904 Eye Drops for Patients with Fuchs Endothelial Corneal Dystrophy

Investigational
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Sirolimus
  • Sponsor:Santen Inc.

Duchenne muscular dystrophy

Not recruiting

Study on Long-Term Safety and Effectiveness of Vamorolone in Boys with Duchenne Muscular Dystrophy Who Completed Previous Vamorolone Studies

Registered drugNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years
  • Substances:Vamorolone
  • Sponsor:Santhera Pharmaceuticals (Schweiz) AG

Metastatic neoplasm+1

Not recruiting

Study on Treating Advanced Cancers with BRAF Mutations Using Sorafenib and Trametinib for Patients with Impaired Kinase Activity

Registered drugNo placebo
Countries:GermanyGermany
  • Participants:18–64 years · 65+ years
  • Substances:Sorafenib
  • Sponsor:Medical Center - University Of Freiburg

Sickle cell disease

Not recruiting

Study of Mitapivat for Patients with Sickle Cell Disease and Kidney Disease

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Mitapivat
  • Sponsor:Agios Pharmaceuticals Inc.

Rett syndrome

Not recruiting

Study on the Safety and Tolerability of Leriglitazone for Children with Rett Syndrome

Investigational
Countries:SpainSpain
  • Participants:0–17 years
  • Substances:Leriglitazone
  • Sponsor:Minoryx Therapeutics S.L.

Cystic fibrosis

Not recruiting

Study on Thymalfasin for Adults with Cystic Fibrosis

Registered drugNo placebo
Countries:ItalyItaly
  • Participants:18–64 years · 65+ years
  • Substances:Thymalfasin
  • Sponsor:Sciclone Pharmaceuticals International (SG) Pte. Ltd.

Duchenne muscular dystrophy

Not recruiting

Study on Eteplirsen for Patients with Duchenne Muscular Dystrophy with Deletion Mutations Amenable to Exon 51 Skipping

InvestigationalNo placebo
Countries:CzechiaCzechia
  • Participants:0–17 years
  • Substances:Eteplirsen
  • Sponsor:Sarepta Therapeutics Inc.

Neoplasm malignant+3

Not recruiting

Study on Atezolizumab and Tiragolumab for Patients with Head and Neck Cancer, Metastatic Melanoma, and Other Advanced Solid Tumors

Registered drugNo placebo
Countries:The NetherlandsThe Netherlands
  • Participants:18–64 years · 65+ years
  • Substances:Atezolizumab
  • Sponsor:Universitair Medisch Centrum Groningen

Hereditary angioedema

Not recruiting

Study on the Safety of Donidalorsen for Patients with Hereditary Angioedema

InvestigationalNo placebo
Countries:The NetherlandsThe Netherlands
  • Participants:18–64 years
  • Substances:Donidalorsen
  • Sponsor:Ionis Pharmaceuticals Inc.

Fabry's disease

Not recruiting

Study on Long-Term Safety of Oral Lucerastat for Adults with Fabry Disease

InvestigationalNo placebo
Countries:AustriaAustria
  • Participants:18–64 years · 65+ years
  • Substances:Lucerastat
  • Sponsor:Idorsia Pharmaceuticals Ltd.

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.