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Congenital, familial and genetic disorders – page 8

  • 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
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803 clinical trials

Familial dilated cardiomyopathy

Recruiting

Study of ALXN2350 gene therapy in adults with BAG3 mutation-associated dilated cardiomyopathy: A safety and efficacy trial

Registered drugNo placebo
Countries:GermanyGermany
  • Participants:18–64 years · 65+ years
  • Substances:AAV9-CTNT-COBAG3
  • Sponsor:Alexion Pharmaceuticals Inc.

Hypochondroplasia

Recruiting

Study of Vosoritide Safety and Effectiveness in Infants and Young Children (0 to 36 months) with Hypochondroplasia

Registered drug
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:Vosoritide
  • Sponsor:Biomarin Pharmaceutical Inc.

Asplenia

Recruiting

Study of Pneumococcal Vaccine Response in Patients Without a Spleen: Comparing Vaccination Before and After Spleen Removal Using PCV20 and PCV21

Registered drugNo placebo
Countries:The NetherlandsThe Netherlands
  • Participants:18–64 years · 65+ years · Healthy volunteers
  • Substances:Pneumococcal Polysaccharide Serotype 1 Conjugated To Crm197 Adsorbed On Aluminium Phosphate
  • Sponsor:Leiden University Medical Center

Adrenogenital syndrome

Recruiting

Study of crinecerfont oral solution in children under 2 years old with congenital adrenal hyperplasia to evaluate safety and how the drug works in the body

InvestigationalNo placebo
Countries:GermanyGermany
  • Participants:0–17 years
  • Substances:Crinecerfont

Myelodysplastic syndrome+1

Recruiting

Study of momelotinib in patients with VEXAS syndrome and myelodysplastic syndrome who are dependent on or do not respond to steroid treatment

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Momelotinib Dihydrochloride Monohydrate
  • Sponsor:Groupe Francophone Des Myelodysplasies

Osteopetrosis

Recruiting

Study of gene-modified stem cells (FT024) in children with TCIRG1-related osteopetrosis using treosulfan, thiotepa, and plerixafor for treatment

Registered drugNo placebo
Countries:ItalyItaly
  • Participants:0–17 years
  • Substances:Plerixafor
  • Sponsor:Fondazione Telethon Ets

Congenital pseudarthrosis

Recruiting

Study of NVD003 stem cell implant compared to bone graft for children with congenital pseudarthrosis of the tibia

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years
  • Substances:Autologous Adipose-Derived Stem Cells
  • Sponsor:Novadip Biosciences

Myotonic dystrophy

Recruiting

Study of intravenous AOC 1001 to evaluate long-term safety and effectiveness in patients with myotonic dystrophy type 1

InvestigationalNo placebo
Countries:DenmarkDenmark
  • Participants:0–17 years · 18–64 years
  • Substances:Humanised Igg1 Monoclonal Antibody Against Tfr1 Conjugated To Double Stranded Sirna Oligonucleotide Against Dmpk Via A Non-Cleavable Linker
  • Sponsor:Avidity Biosciences Inc.

Li-Fraumeni syndrome

Recruiting

Study of metformin for cancer prevention in adolescents and adults with Li-Fraumeni syndrome

Registered drugNo placebo
Countries:GermanyGermany
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Metformin
  • Sponsor:Medizinische Hochschule Hannover

Cystic fibrosis

Recruiting

Study of elexacaftor, tezacaftor and ivacaftor combination therapy to evaluate blood levels in patients with Cystic Fibrosis

Registered drugNo placebo
Countries:ItalyItaly
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Elexacaftor
  • Sponsor:IRCCS Istituto Giannina Gaslini

K-ras gene mutation+1

Recruiting

Study of MK-1084, cetuximab and mFOLFOX6 combination compared to mFOLFOX6 with or without bevacizumab for patients with KRAS G12C-mutant advanced colorectal cancer

Registered drugNo placebo
Countries:FinlandFinland
  • Participants:18–64 years · 65+ years
  • Substances:Bevacizumab
  • Sponsor:Merck Sharp & Dohme LLC

Vascular malformation

Recruiting

Evaluation of Enoxaparin for Prevention of Localized Intravascular Coagulopathy in Children with Slow-Flow Vascular Malformations Undergoing Interventional Procedures

Registered drugNo placebo
Countries:SpainSpain
  • Participants:0–17 years · 18–64 years
  • Substances:Enoxaparin Sodium
  • Sponsor:Fundacio Sant Joan De Deu

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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