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Congenital, familial and genetic disorders – page 22

  • 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

Congenital hyperinsulinaemic hypoglycaemia+1

Recruiting

Study on the Safety and Effects of Efpegerglucagon in Children Aged 2 and Older with Congenital Hyperinsulinism

InvestigationalNo placebo
Countries:GermanyGermany
  • Participants:0–17 years · 18–64 years
  • Substances:Efpegerglucagon
  • Sponsor:Hanmi Pharm. Co. Ltd.

Mitochondrial myopathy

Recruiting

Study of doxecitine and doxribtimine oral solution for adult patients with Thymidine Kinase 2 (TK2) Deficiency

InvestigationalNo placebo
Countries:SpainSpain
  • Participants:18–64 years · 65+ years
  • Substances:Doxecitine
  • Sponsor:Hospital Universitario 12 De Octubre

Sickle cell anaemia+1

Recruiting

Study on the Effects of Exagamglogene Autotemcel for Patients with Transfusion-Dependent Beta-Thalassemia or Severe Sickle Cell Disease

Registered drugNo placebo
Countries:GermanyGermany
  • Participants:0–17 years · 18–64 years
  • Substances:Busulfan
  • Sponsor:Vertex Pharmaceuticals Inc.

EGFR gene mutation+1

Recruiting

Study on Patritumab Deruxtecan and Zirconium (89Zr) Patritumab Deruxtecan for Patients with Advanced EGFR Mutation Positive Lung Cancer

InvestigationalNo placebo
Countries:The NetherlandsThe Netherlands
  • Participants:18–64 years · 65+ years
  • Substances:Patritumab Deruxtecan
  • Sponsor:Het Nederlands Kanker Instituut-Antoni van Leeuwenhoek Ziekenhuis Stichting

Factor VIII deficiency

Recruiting

Study on the Safety and Effects of NXT007 for Patients with Severe or Moderate Hemophilia A

InvestigationalNo placebo
Countries:ItalyItaly
  • Participants:0–17 years · 18–64 years
  • Substances:Ro7589655
  • Sponsor:F. Hoffmann-La Roche AG

Methylmalonic acidaemia

Recruiting

Study on Long-Term Safety of mRNA-3705 for Patients with Methylmalonic Acidemia (MMA)

Registered drugNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years
  • Substances:Dexamethasone
  • Sponsor:Moderna Therapeutics Inc.

Tuberous sclerosis complex

Recruiting

Study on the Effects of Sirolimus and Drug Combination for Children Under 4 Months with Tuberous Sclerosis Complex

Registered drugNo placebo
Countries:AustriaAustria
  • Participants:0–17 years
  • Substances:Carbamazepine
  • Sponsor:Universitaetsklinikum Heidelberg AöR

Klinefelter's syndrome

Recruiting

Testosterone Treatment for Boys with Klinefelter Syndrome: A Study on Body Composition Changes During Puberty

Investigational
Countries:DenmarkDenmark
  • Participants:0–17 years
  • Substances:Testosterone
  • Sponsor:Region Hovedstaden

Glycogen storage disease type II

Recruiting

Study on the Safety and Effects of Cipaglucosidase Alfa and Miglustat for Children with Infantile-onset Pompe Disease

InvestigationalNo placebo
Countries:DenmarkDenmark
  • Participants:0–17 years
  • Substances:Cipaglucosidase Alfa
  • Sponsor:Amicus Therapeutics Inc.

Dementia+5

Recruiting

Study on the Benefits of Amyloid PET Imaging with Florbetaben (18F) and Flutemetamol (18F) for Patients with Various Types of Dementia

Registered drugNo placebo
Countries:GermanyGermany
  • Participants:18–64 years · 65+ years
  • Substances:Florbetaben (18F)
  • Sponsor:Deutsches Zentrum Fuer Neurodegenerative Erkrankungen e.V.

Mismatch repair cancer syndrome

Recruiting

Study on the Effectiveness of Botensilimab and Balstilimab for Patients with Various dMMR and pMMR Tumors

InvestigationalNo placebo
Countries:The NetherlandsThe Netherlands
  • Participants:18–64 years · 65+ years
  • Substances:Balstilimab
  • Sponsor:Netherlands Cancer Institute

Tourette's disorder

Recruiting

Study on Impulsivity Control in Adults with Tourette Syndrome Using [18F]-Altanserin and Aripiprazole

Registered drugNo placebo
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Aripiprazole
  • Sponsor:Hospices Civils De Lyon

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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