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Congenital, familial and genetic disorders – page 35

  • 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

Primary hyperoxaluria

Not recruiting

Study of nedosiran for patients with primary hyperoxaluria type 1 and severe kidney impairment with or without dialysis

InvestigationalNo placebo
Countries:GermanyGermany
  • Participants:0–17 years · 18–64 years
  • Substances:Nedosiran
  • Sponsor:Dicerna Pharmaceuticals Inc.

Hypophosphatasia

Not recruiting

Study of ilofotase alfa effects on biomarkers in adults with hypophosphatasia

InvestigationalNo placebo
Countries:GermanyGermany
  • Participants:18–64 years · 65+ years
  • Substances:Ilofotase Alfa
  • Sponsor:AM-Pharma B.V.

Duchenne muscular dystrophy

Not recruiting

Study of SAT-3247 Compared to Placebo for Patients with Duchenne Muscular Dystrophy Who Can Walk

Investigational
Countries:BelgiumBelgium
  • Participants:0–17 years
  • Substances:SAT-3247 OXALATE
  • Sponsor:Satellos Bioscience Inc.

Primary immunodeficiency syndrome

Not recruiting

Long-term safety and effectiveness study of leniolisib for patients with primary immunodeficiency and immune system problems

InvestigationalNo placebo
Countries:SpainSpain
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Leniolisib Phosphate
  • Sponsor:Pharming Technologies B.V.

Type IIa hyperlipidaemia

Not recruiting

A study testing how well zodasiran works and how safe it is for teenagers and adults with homozygous familial hypercholesterolemia

Investigational
Countries:AustriaAustria
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:ZODASIRAN
  • Sponsor:Arrowhead Pharmaceuticals Inc.

Factor VIII deficiency+1

Not recruiting

A study looking at the safety of switching from emicizumab to denecimig in adults and adolescents with haemophilia A with or without inhibitors

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

Hereditary haemorrhagic telangiectasia

Not recruiting

A Study of ALN-6400 Safety and Effectiveness in Adults with Hereditary Hemorrhagic Telangiectasia

Investigational
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:RNA, (UM-SP-(2′-DEOXY-2′-FLUORO)A-SP-GM-AM-AM-(2′-DEOXY-2′-FLUORO)A-CM-UM-CM-AM-UM-AM-GM-(2′-DEOXY-2′-FLUORO)C-GM-(2′-DEOXY-2′-FLUORO)A-UM-UM-GM-CM-AM-SP-CM-SP-AM), COMPLEX WITH RNA (UM-SP-GM-SP-CM-AM-AM-UM-(2′-DEOXY-2′-FLUORO)C-GM-(2′-DEOXY-2′-FLUORO)C-(2′-DEOXY-2′-FLUORO)U-(2′-DEOXY-2′-FLUORO)A-UM-GM-AM-GM-UM-UM-UM-CM-UM-AM) 3′-[[(2S,4R)-1-[29-[[2-(ACETYLAMINO)-2-DEOXY-Β-D-GALACTOPYRANOSYL]OXY]-14,14-BIS[[3-[[3-[[5-[[2-(ACETYLAMINO)-2-DEOXY-Β-D-GALACTOPYRANOSYL]OXY]-1-OXOPENTYL]AMINO]PROPYL]AMINO]-3-OXOPROPOXY]METHYL]-1,12,19,25-TETRAOXO-16-OXA-13,20,24-TRIAZANONACOS-1-YL]-4-HYDROXY-2-PYRROLIDINYL]METHYL HYDROGEN PHOSPHATE] (1:1)
  • Sponsor:Alnylam Pharmaceuticals Inc.

Niemann-Pick disease

Not recruiting

A Study to Evaluate the Safety of Olipudase Alfa in Children and Adults with Niemann-Pick Disease Who Completed Previous Treatment Studies

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years
  • Sponsor:Sanofi Winthrop Industrie

Retinitis pigmentosa

Not recruiting

Study of ultevursen treatment in patients with retinitis pigmentosa caused by mutations in USH2A gene exon 13

Investigational
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:ULTEVURSEN
  • Sponsor:Laboratoires Thea

Fabry's disease

Not recruiting

Study comparing venglustat tablets with standard therapy for adult patients with Fabry disease and left ventricular hypertrophy

Registered drugNo placebo
Countries:AustriaAustria
  • Participants:18–64 years
  • Substances:AGALSIDASE BETA
  • Sponsor:Sanofi-Aventis Recherche & Developpement

PIK3CA related overgrowth spectrum

Not recruiting

Study of alpelisib in children and adults with PIK3CA-Related Overgrowth Spectrum (PROS)

Investigational
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Alpelisib
  • Sponsor:Novartis Pharma AG

Duchenne muscular dystrophy

Not recruiting

Study of BMN 351 given by intravenous infusion to evaluate safety and tolerability in patients with Duchenne Muscular Dystrophy

InvestigationalNo placebo
Countries:ItalyItaly
  • Participants:0–17 years
  • Sponsor:Biomarin Pharmaceutical 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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