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Congenital, familial and genetic disorders

  • 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
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803 clinical trials

Hereditary angioedema with C1 esterase inhibitor deficiency+1

Recruiting

A study of navenibart for long-term safety in patients with hereditary angioedema

Investigational
Countries:AustriaAustria
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Navenibart
  • Sponsor:Astria Therapeutics Inc.

Phenylketonuria

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.

Hereditary haemorrhagic telangiectasia

Recruiting

A Phase 3 Study of Engasertib to Evaluate Safety and Effectiveness in Adults with Moderate to Severe Hereditary Hemorrhagic Telangiectasia

Investigational
Countries:BelgiumBelgium
  • Participants:18–64 years · 65+ years
  • Sponsor:Vaderis Therapeutics AG

Type IIa hyperlipidaemia

Recruiting

Zodasiran for Adolescents With Homozygous Familial Hypercholesterolemia: A Phase 3 Study of Efficacy and Safety

InvestigationalNo placebo
Countries:DenmarkDenmark
  • Participants:0–17 years · 18–64 years
  • Substances:Zodasiran
  • Sponsor:Arrowhead Pharmaceuticals Inc.

Huntington's disease

Recruiting

Efficacy and safety of votoplam in adults with Huntington’s disease: a randomized, double‑blind, placebo‑controlled Phase 3 trial

Investigational
Countries:AustriaAustria
  • Participants:18–64 years · 65+ years
  • Substances:Votoplam
  • Sponsor:Novartis Pharma AG

Von Willebrand's disease+1

Recruiting

Phase 2 Study of ALN-6400 Safety and Tolerability in Female Patients with Von Willebrand Disease and Heavy Menstrual Bleeding

InvestigationalNo placebo
Countries:GermanyGermany
  • Participants:18–64 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.

Hypertrophic cardiomyopathy

Recruiting

Study of Short‑and Long‑Term Hemodynamic and Physiological Effects of Mavacamten in Patients with Obstructive Hypertrophic Cardiomyopathy

Registered drugNo placebo
Countries:SwedenSweden
  • Participants:18–64 years · 65+ years
  • Substances:Mavacamten
  • Sponsor:Region Skane

Hereditary spastic paraplegia

Recruiting

Phase IIb Open‑Label Study of Intrathecal Melpida (AAV9/AP4M1) in Patients with Hereditary Spastic Paraplegia Type 50 (SPG50)

InvestigationalNo placebo
Countries:DenmarkDenmark
  • Participants:0–17 years
  • Sponsor:Rigshospitalet

Hereditary angioedema

Recruiting

Long‑Term Safety Study of ADX‑324 in Participants with Hereditary Angioedema (Phase 3 Extension)

Investigational
Countries:AustriaAustria
  • Participants:18–64 years · 65+ years
  • Substances:ADX-324
  • Sponsor:Adarx Pharmaceuticals Inc.

Ornithine transcarbamoylase deficiency

Recruiting

Long‑Term Safety Follow‑up of Ornithine Transcarbamylase Deficiency Patients Treated with ECUR‑506D and ECUR‑506A

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:Adeno-Associated Virus Serotype Rh79 Containing The Human Otc Gene
  • Sponsor:Iecure Inc.

Duchenne muscular dystrophy+1

Recruiting

Long‑Term Safety and Efficacy Study of ENTR‑601‑45 and ENTR‑601‑44 in Participants with Duchenne Muscular Dystrophy

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years
  • Substances:ENTR-601-44
  • Sponsor:Entrada Therapeutics Inc.

Factor VIII deficiency+1

Recruiting

Efficacy of efanesoctocog alfa in reducing synovitis in patients with congenital hemophilia A – a multicenter, randomized, open‑label phase 3 trial

Registered drugNo placebo
Countries:AustriaAustria
  • Participants:18–64 years · 65+ years
  • Substances:Efanesoctocog Alfa
  • Sponsor:GWT-Tud GmbH

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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