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Congenital, familial and genetic disorders – page 20

  • 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 optic atrophy

Recruiting

Study on the Safety and Tolerability of STK-002 for Patients with Autosomal Dominant Optic Atrophy

InvestigationalNo placebo
Countries:AustriaAustria
  • Participants:0–17 years · 18–64 years
  • Substances:18‐MER antisense oligonucleotide complementary to OPA1 PRE-mRNA
  • Sponsor:Stoke Therapeutics Inc.

Factor VIII deficiency

Recruiting

Continued Access Study for Patients with Severe Hemophilia A Using Efanesoctocog Alfa

Registered drugNo placebo
Countries:BulgariaBulgaria
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Efanesoctocog Alfa
  • Sponsor:Swedish Orphan Biovitrum AB (publ)

Osteochondrodysplasia

Recruiting

Study on the Safety and Effectiveness of TransCon CNP for Infants with Achondroplasia

Investigational
Countries:AustriaAustria
  • Participants:0–17 years
  • Substances:Navepegritide
  • Sponsor:Ascendis Pharma Growth Disorders A/S

Cardiac amyloidosis+1

Recruiting

Long-Term Safety Study of NTLA-2001 for Patients with Hereditary Transthyretin Amyloidosis with Polyneuropathy or Transthyretin Amyloidosis-Related Cardiomyopathy

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Ziclumeran
  • Sponsor:Intellia Therapeutics Inc.

Factor IX deficiency

Recruiting

Study on the Safety and Effectiveness of REGV131 and LNP1265 for Adults with Hemophilia B

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Adeno-Associated Virus Vector Serotype 8 Containing The Human F9 Gene
  • Sponsor:Regeneron Pharmaceuticals Inc.

Epidermolysis bullosa

Recruiting

Study on Diacerein 1% Ointment for Treating Generalized Epidermolysis Bullosa Simplex in Patients Aged 6 Months and Older

Investigational
Countries:AustriaAustria
  • Participants:0–17 years · 18–64 years
  • Substances:Diacerein
  • Sponsor:Twi Biotechnology Inc.

Congenital cystic kidney disease

Recruiting

Study on the Safety and Effects of Tolvaptan for Children with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Registered drugNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years
  • Substances:Tolvaptan
  • Sponsor:Otsuka Pharmaceutical Development & Commercialization Inc.

VEXAS syndrome

Recruiting

Study of Azacitidine Treatment in Patients with VEXAS Syndrome

Registered drugNo placebo
Countries:DenmarkDenmark
  • Participants:18–64 years · 65+ years
  • Substances:Azacitidine
  • Sponsor:Rigshospitalet

Primary hyperoxaluria

Recruiting

Study on Stiripentol for Patients Aged 6 and Older with Primary Hyperoxaluria Types 1, 2, or 3

Registered drug
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Stiripentol
  • Sponsor:Biocodex

Sickle cell anaemia+1

Recruiting

Long-term Safety Study of Exagamglogene Autotemcel for Patients with Sickle Cell Disease or Transfusion-Dependent Thalassemia

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

Huntington's disease

Recruiting

Study on the Use of Thiamine and Biotin for Patients with Huntington's Disease

Registered drugNo placebo
Countries:SpainSpain
  • Participants:18–64 years · 65+ years
  • Substances:Biotin
  • Sponsor:Fundacion Publica Andaluza Para La Gestion De La Investigacion En Salud De Sevilla

Andersen-Tawil syndrome+1

Recruiting

Study of flecainide alone or with beta-blockers or calcium channel blockers and quinidine for treating ventricular arrhythmias in patients with Andersen-Tawil syndrome and MEPPC

Registered drugNo placebo
Countries:The NetherlandsThe Netherlands
  • Participants:18–64 years · 65+ years
  • Substances:Atenolol
  • Sponsor:Amsterdam UMC Stichting

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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