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Congenital, familial and genetic disorders – page 28

  • 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
Quick filters

803 clinical trials

Gaucher's disease type III

Not yet recruiting

Efficacy and safety of oral venglustat versus intravenous imiglucerase in children aged 2‑11 years with Gaucher disease type 3

Registered drugNo placebo
Countries:FinlandFinland
  • Participants:0–17 years
  • Substances:Imiglucerase
  • Sponsor:Sanofi-Aventis Recherche & Developpement

Gaucher's disease type I

Not yet recruiting

Phase 3 Safety and Efficacy Trial of FLT201 Gene Therapy in Patients with Gaucher Disease Type 1 Using Drug Combination

Registered drugNo placebo
Countries:SpainSpain
  • Participants:18–64 years · 65+ years
  • Substances:Prednisolone
  • Sponsor:Spur Therapeutics Limited

Spinal muscular atrophy

Not yet recruiting

Safety and Efficacy of Intrathecal BIIB115 in Infants with Spinal Muscular Atrophy Previously Treated with Onasemnogene Abeparvovec

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years
  • Substances:BIIB115
  • Sponsor:Biogen Idec Research Limited

Fabry's disease

Not yet recruiting

Efficacy and Safety of Lucerastat in Treatment‑Naïve Adult Male Patients with Fabry Disease

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:18–64 years
  • Substances:Lucerastat
  • Sponsor:Idorsia Pharmaceuticals Ltd.

Thalassaemia beta+2

Not yet recruiting

Phase 3 study of mitapivat for effectiveness and safety in children with non‑transfusion‑dependent alpha or beta thalassemia

Investigational
Countries:GreeceGreece
  • Participants:0–17 years
  • Substances:Mitapivat
  • Sponsor:Agios Pharmaceuticals Inc.

Malformation venous

Not yet recruiting

Surgery versus Lauromacrogol 400 injection for superficial labial venous malformations in children and adults: a randomized controlled trial

Registered drugNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Lauromacrogol 400
  • Sponsor:Centre Hospitalier Regional Universitaire De Tours

Stargardt's disease

Not yet recruiting

Phase 3 Study of Gildeuretinol Acetate (ALK‑001) to Assess Safety and Efficacy in Slowing Progression of Stargardt Disease in Adults

Investigational
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years

Thalassaemia beta+2

Not yet recruiting

Phase 3 Study of Mitapivat to Reduce Transfusions in Children with Alpha or Beta Transfusion‑Dependent Thalassemia

Investigational
Countries:GreeceGreece
  • Participants:0–17 years
  • Substances:Mitapivat
  • Sponsor:Agios Pharmaceuticals Inc.

Barth syndrome

Not yet recruiting

Efficacy and Safety of Daily Subcutaneous Elamipretide Trihydrochloride Injections in Patients with Barth Syndrome (Phase 3b/4 Randomized Trial)

Investigational
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Elamipretide Trihydrochloride
  • Sponsor:Stealth Biotherapeutics Inc.

Spinal muscular atrophy

Not yet recruiting

Study of BIIB115 in patients aged 15‑60 years with spinal muscular atrophy who are treatment‑naïve or previously treated with risdiplam

InvestigationalNo placebo
Countries:FinlandFinland
  • Participants:0–17 years · 18–64 years
  • Substances:BIIB115
  • Sponsor:Biogen Idec Research Limited

VEXAS syndrome

Not yet recruiting

Randomized Study of SIR9900 for Safety and Effectiveness in Patients with VEXAS Syndrome

Investigational
Countries:ItalyItaly
  • Participants:18–64 years · 65+ years

Adrenogenital syndrome

Not yet recruiting

Study of Crinecerfont in Adults with Classic Congenital Adrenal Hyperplasia to Reduce Androgen Levels

InvestigationalNo placebo
Countries:AustriaAustria
  • Participants:18–64 years
  • Substances:Crinecerfont
  • Sponsor:Neurocrine Biosciences Inc.

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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