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Congenital, familial and genetic disorders – page 9

  • 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

Stargardt's disease

Recruiting

Evaluation of SB-007 Safety and Efficacy in Patients with Stargardt Disease Type 1 (STGD1) Caused by ABCA4 Gene Mutations

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:18–64 years
  • Substances:ADENO-ASSOCIATED VIRUS VECTOR SEROTYPE 8 ENCODING THE ABCA4 PROTEIN, C-REGION
  • Sponsor:Splicebio S.L.

Hypochondroplasia

Recruiting

Study on the Effectiveness and Safety of Infigratinib for Children with Hypochondroplasia and Short Stature

Registered drug
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:Infigratinib
  • Sponsor:Qed Therapeutics Inc.

Phenylketonuria

Recruiting

Study of Long-Term Neurocognitive Outcomes in Children with Phenylketonuria Treated with Sepiapterin

Registered drugNo placebo
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:Sepiapterin
  • Sponsor:PTC Therapeutics Inc.

Sickle cell anaemia

Recruiting

Evaluating Morphine Effectiveness Based on Kidney Function in Patients with Sickle Cell Disease During Vaso-occlusive Crisis

Registered drugNo placebo
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Iohexol
  • Sponsor:Centre Hospitalier Regional Universitaire De Tours

Hypertrophic cardiomyopathy

Recruiting

Study Evaluating Direct Oral Anticoagulants for Prevention of Blood Clots in Patients with Hypertrophic Cardiomyopathy and Abnormal Left Atrial Function

Registered drugNo placebo
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Rivaroxaban
  • Sponsor:Centre Hospitalier Universitaire De Rennes

Factor IX deficiency

Recruiting

Study of Etranacogene Dezaparvovec (CSL222) in Adolescent Males with Severe or Moderately Severe Hemophilia B

Registered drugNo placebo
Countries:AustriaAustria
  • Participants:0–17 years
  • Substances:Etranacogene Dezaparvovec
  • Sponsor:CSL Behring LLC

Cystic fibrosis

Recruiting

Study on the Safety and Tolerability of Tamoxifen in Cystic Fibrosis Patients Not Eligible for CFTR Modulator Therapy

Registered drugNo placebo
Countries:ItalyItaly
  • Participants:18–64 years
  • Substances:Tamoxifen
  • Sponsor:Azienda Ospedaliera Universitaria Integrata Verona

Turner's syndrome

Recruiting

Study on Long-Term Effects of Oral and Transdermal Estradiol Therapy in Women with Turner Syndrome

Registered drugNo placebo
Countries:DenmarkDenmark
  • Participants:18–64 years · Healthy volunteers
  • Substances:Estradiol
  • Sponsor:Region Midtjylland

Trisomy 21+1

Recruiting

Study on the Use of 18F-PI-2620 to Detect Alzheimer's in People with Down Syndrome

InvestigationalNo placebo
Countries:SpainSpain
  • Participants:18–64 years · 65+ years · Healthy volunteers
  • Substances:Izaflortaucipir (18F)
  • Sponsor:Fundacio Institut De Recerca De L Hospital De La Santa Creu I Sant Pau

Huntington's disease

Recruiting

Study on [18F]MNI-659 to Track Huntington's Disease Progression in Symptomatic and Pre-symptomatic Patients

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:18–64 years · Healthy volunteers
  • Substances:2-[2-[3-[4-(2-(18F)FLUORANYLETHOXY)PHENYL]-7-METHYL-4-OXOQUINAZOLIN-2-YL]ETHYL]-4-PROPAN-2-YLOXYISOINDOLE-1,3-DIONE
  • Sponsor:Assistance Publique Hopitaux De Paris

Congenital cystic kidney disease+1

Recruiting

Study on Chronic Kidney Disease and Polycystic Kidney Disease Using Pyruvic Acid and MRI for Patients with These Conditions

InvestigationalNo placebo
Countries:DenmarkDenmark
  • Participants:18–64 years · 65+ years · Healthy volunteers
  • Substances:Pyruvic Acid
  • Sponsor:Aarhus University

Urethral valves

Recruiting

Study on the Effectiveness and Safety of Circumcision and Antibiotic Treatment (Cefaclor, Sulfamethoxazole, Trimethoprim) for Boys with Posterior Urethral Valves

Registered drugNo placebo
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:Amoxicillin
  • Sponsor:Centre Hospitalier Universitaire De Bordeaux

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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