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Congenital, familial and genetic disorders – page 45

  • 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
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803 clinical trials

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.

Osteochondrodysplasia

Not recruiting

Study on the Effectiveness and Safety of Navepegritide for Adolescents with Achondroplasia

Investigational
Countries:DenmarkDenmark
  • Participants:0–17 years
  • Substances:Navepegritide
  • Sponsor:Ascendis Pharma Growth Disorders A/S

Hereditary angioedema

Not recruiting

Study on the Safety and Effects of Berotralstat for Children Aged 2 to 12 with Hereditary Angioedema (HAE)

Registered drugNo placebo
Countries:AustriaAustria
  • Participants:0–17 years
  • Substances:Berotralstat
  • Sponsor:Biocryst Pharmaceuticals Inc.

Type IIa hyperlipidaemia+1

Not recruiting

Study of Bempedoic Acid for Children Aged 6-17 with Familial Hypercholesterolemia

InvestigationalNo placebo
Countries:DenmarkDenmark
  • Participants:0–17 years
  • Substances:Bempedoic Acid
  • Sponsor:Esperion Therapeutics Inc.

Study of inhaled alpha1-proteinase inhibitor (Kamada-AAT) in adults with alpha-1 antitrypsin deficiency and moderate to severe airflow limitation

Not recruiting
Investigational
Countries:BelgiumBelgium
  • Participants:18–64 years · 65+ years
  • Substances:Human ALPHA1-PROTEINASE inhibitor
  • Sponsor:Kamada Ltd.

Ectonucleotide pyrophosphatase/phosphodiesterase 1 deficiency

Not recruiting

Study on INZ-701 for Improving Survival in Infants with ENPP1 Deficiency

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:Recombinant Human Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Fused To The Fc Fragment Of Igg1
  • Sponsor:Inozyme Pharma 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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