Autosomal recessive disease

MONDO:0006025

Autosomal recessive form of disease.

Also known as: autosomal recessive disease or disorder, autosomal recessive hereditary disease, autosomal recessive hereditary disorder, autosomal recessive inherited disease, autosomal recessive inherited disorder, disease or disorder, autosomal recessive, disease, autosomal recessive, recessive hereditary disorder (autosomal)

873 clinical trials for this condition and its sub-types.

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Sub-types

Sickle cell disease (297) Cystic fibrosis (256) Phenylketonuria (48) Mismatch repair cancer syndrome 1 (30) Friedreich ataxia (29) Netherton syndrome (13) Niemann-Pick disease type C (12) Usher syndrome (12) Aicardi-Goutieres syndrome (9) Marinesco-Sjogren syndrome (8) Autosomal recessive nonsyndromic hearing loss 9 (7) Leukocyte adhesion deficiency 1 (7) Microcephaly 6, primary, autosomal recessive (7) Autosomal recessive limb-girdle muscular dystrophy type 2I (6) Autosomal recessive polycystic kidney disease (6) Bardet-Biedl syndrome (6) Cerebrotendinous xanthomatosis (6) Cockayne syndrome (6) Autosomal recessive inherited pseudoxanthoma elasticum (5) Autosomal recessive limb-girdle muscular dystrophy type 2A (5)

Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0) Disease by etiologic mechanism (0)

Trials to join now! 363 Not yet recruiting 69 Not yet finished but already full! 159 Completed 245 Terminated 37

Autosomal recessive disease

Sub-types

Broader categories

Could a common laxative soothe gut inflammation in cystic fibrosis?

Sickle cell transplant study halted after just one patient

Experimental drug for rare skin disease fails to reach goal

Cystic fibrosis drug repurposed: can a liver medication fix lung function?

Gene therapy trial for cystic fibrosis halted early

Experimental drug TPN-101 tested in rare childhood brain disease

Sickle cell drug safety trial ends early

Hope for rare skin disease: new drug shows promise in trial

New PKU formula shows promise in managing blood levels

Sickle cell drug trial in kids halted early – but data may still help

Virus therapy fails to advance in colorectal cancer trial

Experimental Friedreich's ataxia drug tested in kids – but trial halted early

Cancer drug may tame sickle cell pain, early study hints

Sickle cell drug candidate tested in first human trial – but study halted early

Experimental gene therapy for rare muscle disease shows early promise but study halted

Sickle cell gene therapy trial halted after just 4 patients

Sickle cell drug oxbryta tracked in real life: what happened?

Cystic fibrosis drug trial halted early

Sickle cell drug inclacumab safety checked in long-term study

Sickle cell drug voxelotor tested for brain benefits in kids – study cut short

Experimental drug roscovitine tested in cystic fibrosis patients

Growth hormone trial for CF wasting halted early

Sickle cell drug voxelotor tested for Long-Term safety

Sickle cell drug voxelotor tested for Long-Term safety – but trial ends early

Experimental cell therapy targets deadly childhood brain cancer

Experimental gene therapy for rare muscle disease tested in just 2 people

Experimental gene therapy tested for rare muscular dystrophy

Breathing machine may ease lung risk for kids with sickle cell

Nasal spray could replace needles for sickle cell pain emergencies

Rare skin disease study seeks to understand netherton syndrome

New sickle cell drug pociredir enters early human testing

MRI vs. CT: a safer way to track cystic fibrosis lung health?

PKU diet in childhood may shape adult IQ, study finds

Cystic fibrosis infection study halted early

Cystic fibrosis study aims to build a research database, not test a cure

AI stethoscope could spot lung disease patterns

Cystic fibrosis gene fix tested in nasal cells