Skip to content
Clinical Trials – home

Rare diseases

Investigational molecules

Locations

Our offerNewsroom

Therapeutic area

Congenital, familial and genetic disorders – page 23

  • 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

Kearns-Sayre syndrome

Recruiting

Study on the Effects of Calcium Folinate in Patients with Kearns-Sayre Syndrome and Cerebral Folate Deficiency

Registered drugNo placebo
Countries:GermanyGermany
  • Participants:0–17 years
  • Substances:ANHYDROUS CALCIUM FOLINATE
  • Sponsor:Universitaetsmedizin Goettingen

Ureteric cancer+7

Recruiting

Study on Spinal Morphine, Intravenous Lidocaine, and Bupivacaine for Patients Undergoing Robot-Assisted Surgery for Kidney or Ureter Conditions

Registered drugNo placebo
Countries:SwedenSweden
  • Participants:18–64 years · 65+ years
  • Substances:Anhydrous Lidocaine Hydrochloride
  • Sponsor:Region Oestergoetland

Pelizaeus-Merzbacher disease

Recruiting

Study on the Safety and Effects of ION356 for Patients with Pelizaeus-Merzbacher Disease

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:2'-O-(2-Methoxyethyl) Modified Antisense Oligonucleotide Targeting Plp1 Pre-Mrna
  • Sponsor:Ionis Pharmaceuticals Inc.

Hereditary angioedema

Recruiting

Long-Term Safety Study of NTLA-2002 for Patients with Hereditary Angioedema, Using Messenger RNA Encoding Cas9 and HU-G012267

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Lonvoguran
  • Sponsor:Intellia Therapeutics Inc.

Mucopolysaccharidosis II

Recruiting

Study on Long-Term Safety and Effects of DNL310 for Patients with Mucopolysaccharidosis Type II (MPS II)

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years
  • Substances:Iduronate-2-Sulfatase Fused To A Fc Polypeptide That Binds To The Human Transferrin Receptor
  • Sponsor:Denali Therapeutics Inc.

Crigler-Najjar syndrome

Recruiting

Study on Gene Therapy GNT0003 for Patients with Severe Crigler-Najjar Syndrome Requiring Phototherapy

Registered drugNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Abiraterone Acetate
  • Sponsor:Genethon

Thalassaemia beta+1

Recruiting

Study on Luspatercept for Improving Brain Oxygenation in Patients with Non-Transfusion Dependent Thalassemia

Registered drugNo placebo
Countries:The NetherlandsThe Netherlands
  • Participants:18–64 years · 65+ years
  • Substances:Luspatercept
  • Sponsor:Amsterdam UMC Stichting

Hereditary angioedema with C1 esterase inhibitor deficiency

Recruiting

Study on the Safety of Long-Term Use of Deucrictibant for Treating Hereditary Angioedema Attacks in Patients with C1-Inhibitor Deficiency

Registered drug
Countries:AustriaAustria
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Deucrictibant
  • Sponsor:Pharvaris Netherlands B.V.

Type IIa hyperlipidaemia

Recruiting

Study on Long-Term Safety of Inclisiran for Patients with Familial Hypercholesterolemia Who Completed Previous Adolescent Studies

Registered drugNo placebo
Countries:CzechiaCzechia
  • Participants:0–17 years · 18–64 years
  • Substances:Inclisiran
  • Sponsor:Novartis Pharma AG

Familial hypertriglyceridaemia+1

Recruiting

Study of ISIS 678354 for Patients with Familial Chylomicronemia Syndrome Previously Treated with Volanesorsen

InvestigationalNo placebo
Countries:SwedenSweden
  • Participants:18–64 years · 65+ years
  • Substances:Isis 678354 Sodium Salt
  • Sponsor:Ionis Pharmaceuticals Inc.

Duchenne muscular dystrophy

Recruiting

Efficacy and Safety of Givinostat for Non-Ambulant Patients with Duchenne Muscular Dystrophy

Investigational
Countries:BelgiumBelgium
  • Participants:0–17 years
  • Substances:Givinostat
  • Sponsor:Italfarmaco S.p.A.

Oesophageal atresia

Recruiting

Study on Triamcinolone Acetonide Injections to Prevent Esophageal Strictures in Children with Esophageal Atresia

Registered drugNo placebo
Countries:DenmarkDenmark
  • Participants:0–17 years
  • Substances:Triamcinolone Acetonide
  • Sponsor:Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

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.