Skip to content
Clinical Trials – home

Rare diseases

Investigational molecules

Locations

Our offerNewsroom

Therapeutic area

Congenital, familial and genetic disorders – page 52

  • 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

Sickle cell anaemia+1

Not recruiting

Study on Crizanlizumab for Adolescents and Adults with Sickle Cell Disease Experiencing Vaso-Occlusive Crises

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Crizanlizumab
  • Sponsor:Novartis Pharma AG

Sickle cell anaemia+1

Not recruiting

A Phase 4 Study of Crizanlizumab Treatment for Patients with Sickle Cell Disease Who Previously Participated in Novartis Clinical Trials

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Crizanlizumab
  • Sponsor:Novartis Pharma AG

Cardiovascular disorder+1

Not recruiting

Study on Long-Term Effects of Lerodalcibep for Lowering Cholesterol in Patients with Familial Hypercholesterolemia or Cardiovascular Disease Risks

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Lerodalcibep
  • Sponsor:Lib Therapeutics LLC

Basal cell naevus syndrome

Not recruiting

Study on Patidegib Gel for Reducing Basal Cell Carcinomas in Adults with Gorlin Syndrome

Investigational
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Patidegib Hydrochloride Isopropanolate
  • Sponsor:Sol-Gel Technologies Ltd.

Phenylketonuria

Not recruiting

Study Comparing Sepiapterin and Sapropterin for Treating Phenylketonuria in Patients Aged 2 Years and Older

Registered drugNo placebo
Countries:CzechiaCzechia
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:(S)-2-Amino-6-(2-Hydroxypropanoyl)-7,8-Dihydropteridin-4(3H)-One
  • Sponsor:PTC Therapeutics Inc.

Hepato-lenticular degeneration

Not recruiting

Study on Gene Therapy with VTX-801 and Copper (64Cu) Chloride for Adults with Wilson's Disease

InvestigationalNo placebo
Countries:DenmarkDenmark
  • Participants:18–64 years
  • Substances:Adeno-Associated Viral Vector Serotype 3B Encoding Shortened Human Atp7B
  • Sponsor:Vivet Therapeutics

Hereditary angioedema

Not recruiting

Study on Long-Term Safety of Donidalorsen for Patients with Hereditary Angioedema

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Donidalorsen
  • Sponsor:Ionis Pharmaceuticals Inc.

Myotonic dystrophy

Not recruiting

Safety and effectiveness study of DYNE-101 in patients with Myotonic Dystrophy Type 1 (DM1)

Investigational
Countries:FranceFrance
  • Participants:18–64 years
  • Substances:Humanised Igg1 Kappa Fragment Antibody Targeting Tfr1 Conjugated To P125 Oligonucleotide
  • Sponsor:Dyne Therapeutics Inc.

Osteochondrodysplasia

Not recruiting

Study on the Effects of Navepegritide and Lonapegsomatropin in Children with Achondroplasia

InvestigationalNo placebo
Countries:DenmarkDenmark
  • Participants:0–17 years
  • Substances:Lonapegsomatropin
  • Sponsor:Ascendis Pharma Growth Disorders A/S

Mucopolysaccharidosis I

Not recruiting

Study on the Effectiveness and Safety of OTL-203 for Patients with Hurler Syndrome (MPS-IH) Compared to Standard Treatment with Stem Cell Transplantation

Registered drugNo placebo
Countries:ItalyItaly
  • Participants:0–17 years
  • Substances:Busulfan
  • Sponsor:Orchard Therapeutics (Europe) Limited

Alpha-1 antitrypsin deficiency+1

Not recruiting

Study Comparing INBRX-101 and Human Alpha1-Proteinase Inhibitor for Adults with Alpha-1 Antitrypsin Deficiency Emphysema

Registered drug
Countries:DenmarkDenmark
  • Participants:18–64 years · 65+ years
  • Substances:Human Alpha-1-Proteinase Inhibitor Immunoglobulin G Fusion Protein, Recombinant
  • Sponsor:Sanofi AATD Inc.

Facioscapulohumeral muscular dystrophy

Not recruiting

Study on the Long-Term Safety and Effectiveness of Losmapimod for Patients with Facioscapulohumeral Muscular Dystrophy (FSHD)

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Losmapimod
  • Sponsor:Fulcrum 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.