Skip to content
Clinical Trials – home

Rare diseases

Investigational molecules

Locations

Our offerNewsroom

Therapeutic area

Congenital, familial and genetic disorders – page 13

  • 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

Tuberous sclerosis complex+1

Recruiting

Study on the Effectiveness and Safety of Sirolimus for Patients with Drug-Resistant Epilepsy Linked to Tuberous Sclerosis Complex

Registered drug
Countries:PolandPoland
  • Participants:0–17 years · 18–64 years
  • Substances:Sirolimus
  • Sponsor:Instytut Pomnik Centrum Zdrowia Dziecka

Congenital cystic kidney disease

Recruiting

Study Comparing Metformin and Tolvaptan for Adults with Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Registered drugNo placebo
Countries:ItalyItaly
  • Participants:18–64 years
  • Substances:Metformin
  • Sponsor:University Of Bari Aldo Moro

Endometrial cancer+18

Recruiting

Study on the Effectiveness and Safety of BAY 2927088 for Patients with Advanced Solid Tumors with HER2 Mutations

InvestigationalNo placebo
Countries:DenmarkDenmark
  • Participants:18–64 years · 65+ years
  • Substances:BAY 2927088
  • Sponsor:Bayer AG

Dent's disease

Recruiting

Study on the Effectiveness and Safety of Alpelisib for Patients with Dent 2 Disease

Registered drugNo placebo
Countries:ItalyItaly
  • Participants:18–64 years
  • Substances:Alpelisib
  • Sponsor:Ospedale Pediatrico Bambino Gesu

Type IIa hyperlipidaemia

Recruiting

Study on the Safety and Effectiveness of Inclisiran for Children Aged 6 to Under 12 with Familial Hypercholesterolemia

Registered drug
Countries:AustriaAustria
  • Participants:0–17 years
  • Substances:Inclisiran
  • Sponsor:Novartis Pharma AG

Rett syndrome

Recruiting

Study on the Effects of Mirtazapine for Improving Symptoms in Patients with Rett Syndrome

Registered drugNo placebo
Countries:ItalyItaly
  • Participants:0–17 years · 18–64 years
  • Substances:Mirtazapine
  • Sponsor:University Of Trieste

Basal cell naevus syndrome

Recruiting

Study of Sonidegib for Patients with Nevoid Basal Cell Carcinoma Syndrome and Sporadic Basal Cell Carcinoma

Registered drugNo placebo
Countries:ItalyItaly
  • Participants:18–64 years · 65+ years
  • Substances:Sonidegib
  • Sponsor:Fondazione GONO Plus

Trisomy 21

Recruiting

Study on Bumetanide for Improving Cognitive Function in Children and Adolescents with Down Syndrome

Registered drug
Countries:ItalyItaly
  • Participants:0–17 years
  • Substances:Bumetanide
  • Sponsor:Ospedale Pediatrico Bambino Gesu

Congenital cystic kidney disease

Recruiting

Study on the Safety of Rotigotine for Patients with Autosomal Dominant Polycystic Kidney Disease

Registered drugNo placebo
Countries:FranceFrance
  • Participants:18–64 years
  • Substances:Rotigotine
  • Sponsor:Centre Hospitalier Universitaire Rouen

Alpha-1 antitrypsin deficiency

Recruiting

Study on the Safety of Self-Infusion Therapy with Human Alpha1-Proteinase Inhibitor for Patients with Severe Alpha-1 Antitrypsin Deficiency

Registered drugNo placebo
Countries:GermanyGermany
  • Participants:18–64 years · 65+ years
  • Substances:Human ALPHA1-PROTEINASE inhibitor
  • Sponsor:Grifols S.A.

Pelizaeus-Merzbacher disease

Recruiting

Studying the Effects of Deferiprone on Motor Function in Children with Pelizaeus-Merzbacher Disease

Registered drugNo placebo
Countries:The NetherlandsThe Netherlands
  • Participants:0–17 years
  • Substances:Deferiprone
  • Sponsor:Amsterdam UMC Stichting

Severe myoclonic epilepsy of infancy

Recruiting

Study on Clemizole Hydrochloride for Children and Adults with Dravet Syndrome

Investigational
Countries:HungaryHungary
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Clemizole Hydrochloride
  • Sponsor:Epygenix Therapeutics 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
Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

Tell us about your condition – we search every trial in Europe and connect you with the right site.