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Therapeutic area

Congenital, familial and genetic disorders – page 36

  • 803 clinical trials
  • 311 recruiting
  • 375 conditions
  • 27 countries

Conditions in this area

375 conditions with trials, the busiest first

Clinical trials in Congenital, familial and genetic disorders

803 trials across Europe, recruiting first

Type of trial
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803 clinical trials

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
  • Substances:Olipudase alfa
  • 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

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

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.

Hereditary ataxia

Not recruiting

Study of fampridine treatment for patients with spinocerebellar ataxia SCA27B caused by FGF14 gene mutation

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

Porphyria non-acute

Not recruiting

Study of bitopertin to improve sunlight tolerance in adults with erythropoietic protoporphyria or X-linked protoporphyria

Investigational
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Bitopertin
  • Sponsor:Disc Medicine Inc.

Study of zorevunersen to reduce seizures in patients with Dravet syndrome

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:Zorevunersen sodium
  • Sponsor:Stoke Therapeutics Inc.

Adrenoleukodystrophy

Not recruiting

Study of drug interactions between leriglitazone, gemfibrozil, itraconazole, and carbamazepine and food effects in healthy male volunteers for adrenoleukodystrophy treatment

Registered drugNo placebo
Countries:PolandPoland
  • Participants:18–64 years · Healthy volunteers
  • Substances:Carbamazepine
  • Sponsor:Minoryx Therapeutics S.L.

Study of laroprovstat (AZD0780) tablets to lower cholesterol levels in adults with inherited high cholesterol condition (heterozygous familial hypercholesterolemia)

Investigational
Countries:BulgariaBulgaria
  • Participants:18–64 years · 65+ years
  • Substances:Laroprovstat
  • Sponsor:AstraZeneca AB

Hereditary angioedema

Not recruiting

Safety Study of Switching from Current Treatment to Garadacimab in Patients Age 12 and Older with Hereditary Angioedema

InvestigationalNo placebo
Countries:GermanyGermany
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Garadacimab
  • Sponsor:CSL Behring LLC

Substances studied in this area

The therapies tested most often in Congenital, familial and genetic disorders trials.

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