Skip to content
Clinical Trials – home

Rare diseases

Investigational molecules

Locations

Our offerNewsroom

Therapeutic area

Congenital, familial and genetic disorders – page 30

  • 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

Primary immunodeficiency syndrome

Not yet recruiting

Autologous CD4+ T-Cell Gene Therapy for X-linked Hyper-IgM Syndrome Type 1 in Patients with X-linked Hyper-IgM Syndrome Type 1

Registered drugNo placebo
Countries:ItalyItaly
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:HAEMOPHILUS TYPE B POLYSACCHARIDE CONJUGATED TO TETANUS TOXOID ADSORBED ON ALUMINIUM PHOSPHATE
  • Sponsor:Fondazione Telethon Ets

Congenital cystic kidney disease

Not yet recruiting

A study to evaluate the safety and tolerability of azathioprine in patients with autosomal dominant polycystic kidney and liver disease

Registered drugNo placebo
Countries:BelgiumBelgium
  • Participants:18–64 years · 65+ years
  • Substances:Azathioprine
  • Sponsor:UZ Leuven

Friedreich's ataxia

Not yet recruiting

A Phase 3 Study Evaluating the Efficacy and Safety of Subcutaneous Nomlabofusp in Adults and Children with Friedreich’s Ataxia

Investigational
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years

Stargardt's disease

Not yet recruiting

A study to evaluate the safety and effectiveness of AAVB-039 in patients with Stargardt disease

InvestigationalNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years · 18–64 years
  • Sponsor:Aavantgarde Bio S.r.l.

Sickle cell anaemia with crisis+1

Not yet recruiting

Study of the effectiveness of iloprost compared to a placebo for treating vaso-occlusive crises in adults with sickle cell disease

Registered drug
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Glucose Monohydrate
  • Sponsor:Centre Hospitalier Universitaire Rouen

Primary bilateral macronodular adrenal hyperplasia

Not yet recruiting

Study of the effect of metyrapone in patients with mild Cushing syndrome caused by primary bilateral macronodular adrenal hyperplasia

Registered drug
Countries:FranceFrance
  • Participants:18–64 years · 65+ years
  • Substances:Metyrapone
  • Sponsor:Assistance Publique Hopitaux De Paris

Hereditary optic atrophy

Not yet recruiting

A study to evaluate the effectiveness of nicotinamide in patients with Leber's hereditary optic neuropathy who have experienced vision loss within the last 18 months

Registered drugNo placebo
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years · 65+ years
  • Substances:Nicotinamide
  • Sponsor:Centre Hospitalier Universitaire D'Angers

Congenital growth hormone deficiency

Not yet recruiting

Study of the effects of Ibutamoren Mesilate in prepubertal children with growth hormone deficiency

Investigational
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:Ibutamoren Mesilate
  • Sponsor:Lumos Pharma Inc.

Malformation venous+1

Not yet recruiting

Study of acetylsalicylic acid and diclofenac for treating blood clots in superficial venous malformations in children aged 6 to 17 years

Registered drug
Countries:FranceFrance
  • Participants:0–17 years · 18–64 years
  • Substances:Acetylsalicylic Acid
  • Sponsor:Centre Hospitalier Regional Universitaire De Tours

Cerebral palsy

Not yet recruiting

Comparison of intrathecal baclofen pump and selective dorsal rhizotomy for children with cerebral palsy who cannot walk

Registered drugNo placebo
Countries:BelgiumBelgium
  • Participants:0–17 years
  • Substances:Baclofen
  • Sponsor:UZ Leuven

Congenital myopathy

Not yet recruiting

Study of ASP2957 Gene Therapy for Male Patients with X-linked Myotubular Myopathy Who Require Breathing Support with Ventilators

InvestigationalNo placebo
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:ASP2957
  • Sponsor:Astellas Gene Therapies Inc.

Congenital megacolon

Not yet recruiting

Study of sodium butyrate enemas for bowel function recovery after surgery in children and adults with Hirschsprung's disease

Registered drugNo placebo
Countries:FranceFrance
  • Participants:0–17 years
  • Substances:Sodium Butyrate
  • Sponsor:Centre Hospitalier Regional De Marseille

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.