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Congenital, familial and genetic disorders – page 18

  • 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

Mitochondrial myopathy

Recruiting

Study on the Effect and Safety of Autologous Mesoangioblasts for Patients with Mitochondrial Myopathy Due to m.3243A>G Mutation

InvestigationalNo placebo
Countries:The NetherlandsThe Netherlands
  • Participants:18–64 years
  • Substances:Autologous Muscle Precursor Cells
  • Sponsor:Academisch Ziekenhuis Maastricht

Glycogen storage disease type II

Recruiting

Study on Reducing Treatment Frequency of Alglucosidase Alfa for Elderly Patients with Late-Onset Pompe Disease

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

Hereditary angioedema with C1 esterase inhibitor deficiency+1

Recruiting

Study on C1 Esterase Inhibitor for Treating and Preventing Hereditary Angioedema Attacks in Patients with C1-INH Deficiency

Registered drug
Countries:BulgariaBulgaria
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Sodium Chloride
  • Sponsor:Octapharma Pharmazeutika Produktionsgesellschaft mbH

Ichthyosis

Recruiting

Study on the Effects of Injectable Gentamicin for Patients with Moderate to Severe Congenital Ichthyosis

Registered drugNo placebo
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Gentamicin Sulfate
  • Sponsor:Centre Hospitalier Universitaire De Toulouse

Cerebral arteriovenous malformation haemorrhagic

Recruiting

Study on Bevacizumab for Patients with Symptomatic Cerebral Arteriovenous Malformations

Registered drug
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Bevacizumab
  • Sponsor:Fondation A De Rothschild

Alport's syndrome

Recruiting

Study on Dapagliflozin for Slowing Kidney Disease in Adolescents and Young Adults with Alport Syndrome

Registered drug
Countries:GermanyGermany
  • Participants:0–17 years · 18–64 years
  • Substances:Dapagliflozin
  • Sponsor:Universitaetsmedizin Goettingen

Mucopolysaccharidosis III

Recruiting

Long-term safety study of rebisufligene etisparvovec gene therapy in patients previously treated for Mucopolysaccharidosis type IIIA

InvestigationalNo placebo
Countries:SpainSpain
  • Participants:0–17 years
  • Substances:Rebisufligene Etisparvovec
  • Sponsor:Ultragenyx Pharmaceutical Inc.

Mucopolysaccharidosis III

Recruiting

Study on the Safety and Effectiveness of Rebisufligene Etisparvovec for Patients with Mucopolysaccharidosis Type IIIA

InvestigationalNo placebo
Countries:SpainSpain
  • Participants:0–17 years
  • Substances:Rebisufligene Etisparvovec
  • Sponsor:Ultragenyx Pharmaceutical Inc.

Spinal muscular atrophy

Recruiting

Study on the Early Use of Risdiplam for Children with Spinal Muscular Atrophy After Gene Therapy

Registered drugNo placebo
Countries:GermanyGermany
  • Participants:0–17 years
  • Substances:Risdiplam
  • Sponsor:F. Hoffmann-La Roche AG

Mucopolysaccharidosis II

Recruiting

Study on Long-Term Safety of Idursulfase-IT and Elaprase for Patients with Hunter Syndrome and Cognitive Impairment

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:Idursulfase
  • Sponsor:Takeda Development Center Americas Inc.

Glanzmann's disease

Recruiting

Study on the Safety and Effects of HMB-001 for Patients with Glanzmann Thrombasthenia

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:18–64 years
  • Substances:Hmb-001
  • Sponsor:Hemab ApS

Hypercholesterolaemia+1

Recruiting

Study on the Effect of Genetic Testing and Training on Muscle Side Effects in Patients Taking Statins for Cardiovascular Risk Prevention

Registered drugNo placebo
Countries:SpainSpain
  • Participants:18–64 years · 65+ years
  • Substances:Atorvastatin
  • Sponsor:Fundacion Para La Investigacion Biomedica Del Hospital Universitario La Princesa

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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