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Congenital, familial and genetic disorders – page 26

  • 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
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796 clinical trials

Antithrombin III deficiency

Recruiting

Study on the Effectiveness of Atenativ for Patients with Congenital Antithrombin Deficiency Undergoing Surgery or Childbirth

Registered drugNo placebo
Countries:AustriaAustria
  • Participants:18–64 years · 65+ years
  • Substances:Antithrombin Iii Human
  • Sponsor:Octapharma AG

Arrhythmogenic right ventricular dysplasia

Recruiting

Study on the Effect of Atorvastatin in Slowing Down Arrhythmogenic Cardiomyopathy Progression in Patients with the Condition

Registered drug
Countries:ItalyItaly
  • Participants:18–64 years · 65+ years
  • Substances:Atorvastatin
  • Sponsor:Centro Cardiologico Monzino S.p.A.

Corneal dystrophy

Recruiting

Study on Nepafenac and Dexamethasone for Reducing Inflammation and Swelling in Fuchs Dystrophy Patients After Corneal Transplant

Registered drugNo placebo
Countries:NorwayNorway
  • Participants:18–64 years · 65+ years
  • Substances:Dexamethasone
  • Sponsor:Oslo University Hospital HF

Glycogen storage disease type II

Recruiting

Study on the Safety and Efficacy of Avalglucosidase Alfa for Patients Aged 5 and Older with Non-Classic Pompe Disease

Registered drugNo placebo
Countries:The NetherlandsThe Netherlands
  • Participants:0–17 years · 18–64 years
  • Substances:Avalglucosidase Alfa
  • Sponsor:Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

Von Hippel-Lindau disease

Recruiting

Study of Propranolol Treatment for Brain Hemangioblastomas in Patients with Von Hippel-Lindau Disease

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

Turner's syndrome

Recruiting

Study on Estrogen Treatment (Oral vs. Transdermal) for Women with Turner Syndrome

Registered drugNo placebo
Countries:DenmarkDenmark
  • Participants:18–64 years
  • Substances:Estradiol
  • Sponsor:Region Midtjylland

Friedreich's ataxia

Recruiting

Long-term safety and effectiveness study of vatiquinone (oral capsules) in patients with Friedreich ataxia who have previously received this treatment

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Vatiquinone
  • Sponsor:PTC Therapeutics Inc.

Ehlers-Danlos syndrome+4

Recruiting

Study on Valsartan for Slowing Aortic Root Dilatation in Children and Young Adults with Marfan Syndrome and Related Conditions

Registered drug
Countries:PolandPoland
  • Participants:0–17 years · 18–64 years
  • Substances:Valsartan
  • Sponsor:Medical University Of Gdansk

Epidermolysis bullosa

Not yet recruiting

Study on ABCB5+ MSCs for Recessive Dystrophic and Junctional Epidermolysis Bullosa Patients

Registered drug
Countries:AustriaAustria
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Clemastine Fumarate
  • Sponsor:Rheacell GmbH & Co. KG

Glycogen storage disease type II

Not yet recruiting

Long‑term study of Pompe disease in all patients receiving alglucosidase alfa drug combination (miglustat, cipaglucosidase alfa, avalglucosidase alfa)

Registered drugNo placebo
Countries:The NetherlandsThe Netherlands
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Alglucosidase Alfa
  • Sponsor:Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

Hereditary haemorrhagic telangiectasia

Not yet recruiting

Safety Study of DIAG723 and Sodium Chloride in Adults with Hereditary Hemorrhagic Telangiectasia

Registered drug
Countries:GermanyGermany
  • Participants:18–64 years · 65+ years
  • Substances:Sodium Chloride

Phenylketonuria

Not yet recruiting

A Phase 2 Study of MZE782 Safety, Tolerability, and Efficacy in Adults with Phenylketonuria

Investigational
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Sponsor:Maze 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
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