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Congenital, familial and genetic disorders – page 21

  • 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
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803 clinical trials

Congenital ectodermal dysplasia

Recruiting

Study on ER004 for Treating Boys with X-linked Hypohidrotic Ectodermal Dysplasia (XLHED)

InvestigationalNo placebo
Countries:FranceFrance
  • Substances:Human Immunoglobulin G1 Constant Region - Human Ectodysplasin-A1 Receptor-Binding Domain Fusion Protein
  • Sponsor:Fondation EspeRare

Retinitis pigmentosa

Recruiting

Study on the Safety and Effects of ISTEM-01 and Mycophenolate Mofetil for Patients with Retinitis Pigmentosa Due to a Genetic Mutation

Registered drugNo placebo
Countries:FranceFrance
  • Participants:18–64 years
  • Substances:ISTEM-01
  • Sponsor:Centre D'Etude Des Cellules Souches

Thalassaemia beta+2

Recruiting

Study of SP-420 for Patients with Transfusion-Dependent Alpha or Beta Thalassemia

InvestigationalNo placebo
Countries:DenmarkDenmark
  • Participants:18–64 years
  • Substances:(S)-4,5-Dihydro-2-[2-Hydroxy-4-(3,6-Dioxaheptyloxy)Phenyl]-4-Methyl-4-Thiazolecarboxylic Acid
  • Sponsor:Pharmacosmos A/S

Arteriovenous malformation

Recruiting

Study on Enalapril for Adults with Painful Venous Malformations

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

Epidermolysis bullosa

Recruiting

Study on the Effectiveness and Safety of Apremilast for Patients Aged 6 and Older with Generalized Epidermolysis Bullosa Simplex

Registered drugNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Apremilast
  • Sponsor:Centre Hospitalier Universitaire De Nice

Factor VIII deficiency+3

Recruiting

Study on the Effectiveness of Concizumab for Children Under 12 with Hemophilia A or B, With or Without Inhibitors

InvestigationalNo placebo
Countries:BulgariaBulgaria
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Concizumab
  • Sponsor:Novo Nordisk A/S

Myotonic dystrophy

Recruiting

Study on the Effects of Metformin for Improving Muscle Function in Patients with Myotonic Dystrophy Type 1

Registered drug
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Metformin Hydrochloride
  • Sponsor:Assistance Publique Hopitaux De Paris

Glomerulonephritis minimal lesion+3

Recruiting

Study on the Safety and Effects of Sparsentan for Children with Proteinuric Kidney Diseases

InvestigationalNo placebo
Countries:GermanyGermany
  • Participants:0–17 years
  • Substances:Sparsentan
  • Sponsor:Travere Therapeutics Inc.

Sickle cell disease

Recruiting

Long-term Safety and Efficacy Study of Lovotibeglogene Autotemcel Gene Therapy for Patients with Sickle Cell Disease

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years
  • Substances:Lovotibeglogene Autotemcel
  • Sponsor:Genetix Biotherapeutics Inc.

KBG syndrome

Recruiting

Study on the Effectiveness of Methylphenidate for Children and Adolescents with KBG Syndrome

Registered drug
Countries:The NetherlandsThe Netherlands
  • Participants:0–17 years · 18–64 years
  • Substances:Methylphenidate Hydrochloride
  • Sponsor:Stichting Radboud universitair medisch centrum

Hypertrophic cardiomyopathy

Recruiting

Study on the Long-Term Safety of Aficamten (CK-3773274) for Patients with Symptomatic Hypertrophic Cardiomyopathy

InvestigationalNo placebo
Countries:CzechiaCzechia
  • Participants:18–64 years · 65+ years
  • Substances:Aficamten
  • Sponsor:Cytokinetics Inc.

Factor VIII deficiency

Recruiting

Study on Personalized Dosing of Emicizumab for Patients with Congenital Hemophilia A

Registered drugNo placebo
Countries:The NetherlandsThe Netherlands
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Emicizumab
  • Sponsor:Universitair Medisch Centrum Utrecht

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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