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Congenital, familial and genetic disorders – page 28

  • 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
Quick filters

796 clinical trials

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.

Huntington's disease

Not yet recruiting

Phase 2/3 Randomized Study of SKY-0515 for Safety and Efficacy in Adults with Huntington’s Disease

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

Hereditary spastic paraplegia

Not yet recruiting

Study of Melpida with drug combination in patients with Hereditary Spastic Paraplegia Type 50 (SPG50)

Registered drugNo placebo
Countries:SpainSpain
  • Participants:0–17 years
  • Substances:Codeine Phosphate

Adenomatous polyposis coli

Not yet recruiting

Study of REC-4881 in Adults with Familial Adenomatous Polyposis to Assess Safety and Efficacy

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

Homocystinuria

Not yet recruiting

Safety and Tolerability Study of Subcutaneous Pegtibatinase in Adults and Children with Classical Homocystinuria (Phase 1/2)

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years · 65+ years
  • Sponsor:Travere Therapeutics Inc.

Cystic fibrosis

Not yet recruiting

Effect of Stopping Long‑Term Azithromycin in Stable Non‑Cystic Fibrosis Bronchiectasis Patients: A Randomized Controlled Trial

Registered drugNo placebo
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Azithromycin
  • Sponsor:Centre Hospitalier Intercommunal Creteil

Severe myoclonic epilepsy of infancy

Not yet recruiting

Safety and Tolerability of Intrathecal ION337 in Patients with Dravet Syndrome

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years
  • Sponsor:Ionis Pharmaceuticals Inc.

Hypertrophic cardiomyopathy

Not yet recruiting

Study of Short‑and Long‑Term Hemodynamic and Physiological Effects of Mavacamten in Patients with Obstructive Hypertrophic Cardiomyopathy

Registered drugNo placebo
Countries:SwedenSweden
  • Participants:18–64 years · 65+ years
  • Substances:Mavacamten
  • Sponsor:Region Skane

IPEX syndrome

Not yet recruiting

Safety and Efficacy Study of FOXP3‑T4 and Aldesleukin in Patients with IPEX Syndrome

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years
  • Substances:Aldesleukin
  • Sponsor:Assistance Publique Hopitaux De Paris

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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