Skip to content
Clinical Trials – home

Rare diseases

Investigational molecules

Locations

Our offerNewsroom

Therapeutic area

Congenital, familial and genetic disorders – page 19

  • 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

Mucopolysaccharidosis II

Recruiting

Study on Long-Term Safety of Idursulfase-IT and Elaprase for Patients with Hunter Syndrome and Cognitive Impairment

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:Idursulfase
  • Sponsor:Takeda Development Center Americas Inc.

Glanzmann's disease

Recruiting

Study on the Safety and Effects of HMB-001 for Patients with Glanzmann Thrombasthenia

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:18–64 years
  • Substances:HMB-001
  • Sponsor:Hemab ApS

Hypercholesterolaemia+1

Recruiting

Study on the Effect of Genetic Testing and Training on Muscle Side Effects in Patients Taking Statins for Cardiovascular Risk Prevention

Registered drugNo placebo
Countries:SpainSpain
  • Participants:18–64 years · 65+ years
  • Substances:Atorvastatin
  • Sponsor:Fundacion Para La Investigacion Biomedica Del Hospital Universitario La Princesa

Anaemia+4

Recruiting

Study on Long-Term Safety of Luspatercept for Patients with Myelodysplastic Syndrome, Beta-Thalassemia, or Myelofibrosis Who Previously Participated in Luspatercept Trials

Registered drugNo placebo
Countries:BulgariaBulgaria
  • Participants:18–64 years · 65+ years
  • Substances:Luspatercept
  • Sponsor:Celgene Corp.

Study on Anakinra and Colchicine for Painful Attacks in Familial Mediterranean Fever Patients Resistant to Colchicine Therapy

Recruiting
Registered drugNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Anakinra
  • Sponsor:Assistance Publique Hopitaux De Paris

Duchenne muscular dystrophy+1

Recruiting

Long-term Safety Study of Delandistrogene Moxeparvovec for Patients with Duchenne Muscular Dystrophy Who Previously Received SRP-9001

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years
  • Substances:Delandistrogene Moxeparvovec
  • Sponsor:Sarepta Therapeutics Inc.

Myotonic dystrophy

Recruiting

Study on the Safety of VX-670 for Adults with Myotonic Dystrophy Type 1

Investigational
Countries:BelgiumBelgium
  • Participants:18–64 years
  • Substances:VX-670
  • Sponsor:Vertex Pharmaceuticals Inc.

Hypoplastic left heart syndrome

Recruiting

Oxygen Therapy for Pregnant Women to Support Heart Development in Unborn Babies with Underdeveloped Left Heart Structures

Registered drugNo placebo
Countries:GermanyGermany
  • Participants:18–64 years
  • Substances:Oxygen
  • Sponsor:Universitaetsklinikum Erlangen AöR

Mucopolysaccharidosis II

Recruiting

Long-term Safety and Efficacy Study of JR-141 (Pabinafusp Alfa) for Male Patients with Hunter Syndrome (Mucopolysaccharidosis II)

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Pabinafusp Alfa
  • Sponsor:Jcr Pharmaceuticals Co. Ltd.

Study on N-Acetyl-L-Leucine for Patients with Niemann-Pick Disease Type C

Recruiting
Investigational
Countries:CzechiaCzechia
  • Participants:0–17 years · 18–64 years
  • Substances:L-Acetylleucine
  • Sponsor:Intrabio Limited

Alpha-1 antitrypsin deficiency

Recruiting

Study on Fazirsiran for Patients with Alpha-1 Antitrypsin Deficiency Liver Disease and Mild Fibrosis

Registered drug
Countries:AustriaAustria
  • Participants:18–64 years · 65+ years
  • Substances:Fazirsiran
  • Sponsor:Takeda Development Center Americas Inc.

Fibrous dysplasia of bone+1

Recruiting

Study on Denosumab for Treating Fibrous Dysplasia/McCune-Albright Syndrome in Adults

Registered drug
Countries:The NetherlandsThe Netherlands
  • Participants:18–64 years · 65+ years
  • Substances:Denosumab
  • Sponsor:Leiden University Medical Center

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.