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Congenital, familial and genetic disorders – page 44

  • 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

Congenital nephrogenic diabetes insipidus

Not recruiting

Study of Fluconazole Treatment for Patients with Congenital Nephrogenic Diabetes Insipidus

Registered drugNo placebo
Countries:DenmarkDenmark
  • Participants:18–64 years · 65+ years
  • Substances:Clotrimazole
  • Sponsor:Odense University Hospital

Usher's syndrome

Not recruiting

Study on Long-Term Safety and Effects of SAR421869 for Patients with Usher Syndrome Type 1B

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:18–64 years
  • Substances:Lentiviral Vector Derived From The Equine Infectious Anaemia Virus Containing The Human Myo7A Gene
  • Sponsor:Sanofi-Aventis Recherche & Developpement

Thalassaemia beta

Not recruiting

Long-Term Safety and Efficacy Study of Betibeglogene Autotemcel Gene Therapy for Patients with Transfusion-Dependent Beta-Thalassemia

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years
  • Substances:Betibeglogene Autotemcel
  • Sponsor:Genetix Biotherapeutics Inc.

Aicardi-Goutieres syndrome

Not recruiting

Study on the Safety of Censavudine (TPN-101) for Patients with Aicardi-Goutières Syndrome

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years
  • Substances:Censavudine
  • Sponsor:Transposon Therapeutics Inc.

Fabry's disease

Not recruiting

Study on the Long-Term Safety and Effectiveness of Pegunigalsidase Alfa for Adults with Fabry Disease

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:18–64 years
  • Substances:Pegunigalsidase Alfa
  • Sponsor:Chiesi Farmaceutici S.p.A.

Thalassaemia beta

Not recruiting

Study on the Safety and Effectiveness of CRISPR-Cas9 Modified Stem Cells for Patients with Transfusion-Dependent Beta-Thalassemia Using Exagamglogene Autotemcel

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

Mucopolysaccharidosis III

Not recruiting

Study of Weekly Infusions of JR-441 for Patients with Mucopolysaccharidosis Type IIIA

InvestigationalNo placebo
Countries:GermanyGermany
  • Participants:0–17 years
  • Substances:N-Sulfoglucosamine Sulfohydrolase Fused To A Humanised Monoclonal Antibody Targeting Human Transferrin Receptor
  • Sponsor:Jcr Pharmaceuticals Co. Ltd.

Spinal muscular atrophy+1

Not recruiting

Study of Clenbuterol vs Placebo in Adult Patients with Spinal and Bulbar Muscular Atrophy (SBMA)

Registered drug
Countries:ItalyItaly
  • Participants:18–64 years · 65+ years
  • Substances:Clenbuterol Hydrochloride
  • Sponsor:Azienda Ospedaliera di Padova

Hypochondroplasia

Not recruiting

Study on the Effectiveness and Safety of Vosoritide for Children with Hypochondroplasia

Registered drug
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:Vosoritide
  • Sponsor:Biomarin Pharmaceutical Inc.

Metachromatic leukodystrophy

Not recruiting

Study of Intrathecal Cebsulfase Alfa for Children with Late Infantile Metachromatic Leukodystrophy

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years
  • Substances:Cebsulfase Alfa
  • Sponsor:Shire Human Genetic Therapies Inc.

Severe myoclonic epilepsy of infancy+1

Not recruiting

Long-Term Safety Study of Fenfluramine Hydrochloride for Seizures in Patients with Dravet or Lennox-Gastaut Syndrome

Registered drugNo placebo
Countries:ItalyItaly
  • Participants:0–17 years · 18–64 years
  • Substances:Fenfluramine Hydrochloride
  • Sponsor:Zogenix International Limited

Alpha-1 antitrypsin deficiency+1

Not recruiting

Study on Long-Term Safety of INBRX-101 for Adults with Alpha-1 Antitrypsin Deficiency Emphysema

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