Autosomal recessive disease
MONDO:0006025Autosomal 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)
994 clinical trials for this condition and its sub-types, 4 tagged with Autosomal recessive disease itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Autosomal recessive disease
-
Sickle cell disease 342 trials
-
Cystic fibrosis 283 trials
1 sub-type
-
Autosomal recessive cerebellar ataxia 0 trials · 72 incl. sub-types
29 sub-types
- Autosomal recessive degenerative and progressive cerebellar ataxia 0 trials · 49 incl. sub-types Sub-types →
- Autosomal recessive metabolic cerebellar ataxia 0 trials · 10 incl. sub-types Sub-types →
- Autosomal recessive congenital cerebellar ataxia 0 trials · 7 incl. sub-types Sub-types →
- Autosomal recessive syndromic cerebellar ataxia 0 trials · 2 incl. sub-types Sub-types →
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 0 trials · 2 incl. sub-types Sub-types →
- Charlevoix-Saguenay spastic ataxia 1 trial
- Autosomal recessive spinocerebellar ataxia 7 1 trial
- Lichtenstein-Knorr syndrome 0 trials
- RIDDLE syndrome 0 trials
- Ataxia with oculomotor apraxia type 3 0 trials
- Autosomal recessive ataxia due to ubiquinone deficiency 0 trials
- Autosomal recessive ataxia, Beauce type 0 trials
- Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome 0 trials Sub-types →
- Autosomal recessive spinocerebellar ataxia 10 0 trials
- Autosomal recessive spinocerebellar ataxia 14 0 trials
- Autosomal recessive spinocerebellar ataxia 16 0 trials
- Autosomal recessive spinocerebellar ataxia 20 0 trials
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia 0 trials
- Spinocerebellar ataxia, autosomal recessive 22 0 trials
- Spinocerebellar ataxia, autosomal recessive 24 0 trials
- Spinocerebellar ataxia, autosomal recessive 25 0 trials
- Spinocerebellar ataxia, autosomal recessive 26 0 trials
- Spinocerebellar ataxia, autosomal recessive 27 0 trials
- Spinocerebellar ataxia, autosomal recessive 28 0 trials
- Spinocerebellar ataxia, autosomal recessive 29 0 trials
- Spinocerebellar ataxia, autosomal recessive 30 0 trials
- Spinocerebellar ataxia, autosomal recessive 31 0 trials
- Spinocerebellar ataxia, autosomal recessive 32 0 trials
- Spinocerebellar ataxia, autosomal recessive 33 0 trials
-
Phenylketonuria 57 trials · 60 incl. sub-types
5 sub-types
- Classic phenylketonuria 4 trials
- Maternal phenylketonuria 3 trials
- Mild hyperphenylalaninemia 3 trials
- Mild phenylketonuria 0 trials
- Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 0 trials
-
Mismatch repair cancer syndrome 5 trials · 36 incl. sub-types
4 sub-types
- Mismatch repair cancer syndrome 1 34 trials
- Mismatch repair cancer syndrome 2 0 trials
- Mismatch repair cancer syndrome 3 0 trials
- Mismatch repair cancer syndrome 4 0 trials
-
Autosomal recessive limb-girdle muscular dystrophy 0 trials · 18 incl. sub-types
32 sub-types
- Autosomal recessive limb-girdle muscular dystrophy type 2I 8 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2A 5 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2E 5 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2C 4 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2B 3 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2D 3 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2F 2 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2L 2 trials
- Autosomal recessive limb-girdle muscular dystrophy type 2G 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2J 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2K 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2M 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2N 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2O 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2P 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2Q 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2R1 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2T 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2U 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2W 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2X 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2Y 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type R18 1 trial
- Autosomal recessive limb-girdle muscular dystrophy type 2H 0 trials
- Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 trials
- Limb-girdle muscular dystrophy due to POMK deficiency 0 trials
- Muscular dystrophy, limb-girdle, autosomal recessive 23 0 trials
- Muscular dystrophy, limb-girdle, autosomal recessive 26 0 trials
- Muscular dystrophy, limb-girdle, autosomal recessive 27 0 trials
- Muscular dystrophy, limb-girdle, autosomal recessive 28 0 trials
- Muscular dystrophy, limb-girdle, autosomal recessive 29 0 trials
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 0 trials
-
Hearing loss, autosomal recessive 1 trial · 17 incl. sub-types
102 sub-types
- Autosomal recessive nonsyndromic hearing loss 9 9 trials
- Autosomal recessive nonsyndromic hearing loss 39 3 trials
- Autosomal recessive nonsyndromic hearing loss 1A 2 trials
- Autosomal recessive nonsyndromic hearing loss 23 1 trial
- Autosomal recessive nonsyndromic hearing loss 5 1 trial
- Autosomal recessive nonsyndromic hearing loss 93 1 trial
- Hearing loss, autosomal recessive 118, with cochlear aplasia 1 trial
- Autosomal recessive nonsyndromic hearing loss 101 0 trials
- Autosomal recessive nonsyndromic hearing loss 102 0 trials
- Autosomal recessive nonsyndromic hearing loss 103 0 trials
- Autosomal recessive nonsyndromic hearing loss 104 0 trials
- Autosomal recessive nonsyndromic hearing loss 12 0 trials
- Autosomal recessive nonsyndromic hearing loss 124 0 trials
- Autosomal recessive nonsyndromic hearing loss 13 0 trials
- Autosomal recessive nonsyndromic hearing loss 14 0 trials
- Autosomal recessive nonsyndromic hearing loss 15 0 trials
- Autosomal recessive nonsyndromic hearing loss 16 0 trials
- Autosomal recessive nonsyndromic hearing loss 17 0 trials
- Autosomal recessive nonsyndromic hearing loss 18A 0 trials
- Autosomal recessive nonsyndromic hearing loss 18B 0 trials
- Autosomal recessive nonsyndromic hearing loss 1B 0 trials
- Autosomal recessive nonsyndromic hearing loss 2 0 trials
- Autosomal recessive nonsyndromic hearing loss 20 0 trials
- Autosomal recessive nonsyndromic hearing loss 21 0 trials
- Autosomal recessive nonsyndromic hearing loss 22 0 trials
- Autosomal recessive nonsyndromic hearing loss 24 0 trials
- Autosomal recessive nonsyndromic hearing loss 25 0 trials
- Autosomal recessive nonsyndromic hearing loss 26 0 trials
- Autosomal recessive nonsyndromic hearing loss 27 0 trials
- Autosomal recessive nonsyndromic hearing loss 28 0 trials
- Autosomal recessive nonsyndromic hearing loss 29 0 trials
- Autosomal recessive nonsyndromic hearing loss 3 0 trials
- Autosomal recessive nonsyndromic hearing loss 30 0 trials
- Autosomal recessive nonsyndromic hearing loss 31 0 trials
- Autosomal recessive nonsyndromic hearing loss 32 0 trials
- Autosomal recessive nonsyndromic hearing loss 33 0 trials
- Autosomal recessive nonsyndromic hearing loss 35 0 trials
- Autosomal recessive nonsyndromic hearing loss 36 0 trials
- Autosomal recessive nonsyndromic hearing loss 37 0 trials
- Autosomal recessive nonsyndromic hearing loss 38 0 trials
- Autosomal recessive nonsyndromic hearing loss 4 0 trials
- Autosomal recessive nonsyndromic hearing loss 40 0 trials
- Autosomal recessive nonsyndromic hearing loss 42 0 trials
- Autosomal recessive nonsyndromic hearing loss 44 0 trials
- Autosomal recessive nonsyndromic hearing loss 45 0 trials
- Autosomal recessive nonsyndromic hearing loss 46 0 trials
- Autosomal recessive nonsyndromic hearing loss 47 0 trials
- Autosomal recessive nonsyndromic hearing loss 48 0 trials
- Autosomal recessive nonsyndromic hearing loss 49 0 trials
- Autosomal recessive nonsyndromic hearing loss 51 0 trials
- Autosomal recessive nonsyndromic hearing loss 53 0 trials
- Autosomal recessive nonsyndromic hearing loss 55 0 trials
- Autosomal recessive nonsyndromic hearing loss 59 0 trials
- Autosomal recessive nonsyndromic hearing loss 6 0 trials
- Autosomal recessive nonsyndromic hearing loss 61 0 trials
- Autosomal recessive nonsyndromic hearing loss 62 0 trials
- Autosomal recessive nonsyndromic hearing loss 63 0 trials
- Autosomal recessive nonsyndromic hearing loss 65 0 trials
- Autosomal recessive nonsyndromic hearing loss 66 0 trials
- Autosomal recessive nonsyndromic hearing loss 67 0 trials
- Autosomal recessive nonsyndromic hearing loss 68 0 trials
- Autosomal recessive nonsyndromic hearing loss 7 0 trials
- Autosomal recessive nonsyndromic hearing loss 70 0 trials
- Autosomal recessive nonsyndromic hearing loss 71 0 trials
- Autosomal recessive nonsyndromic hearing loss 74 0 trials
- Autosomal recessive nonsyndromic hearing loss 76 0 trials
- Autosomal recessive nonsyndromic hearing loss 77 0 trials
- Autosomal recessive nonsyndromic hearing loss 79 0 trials
- Autosomal recessive nonsyndromic hearing loss 8 0 trials
- Autosomal recessive nonsyndromic hearing loss 83 0 trials
- Autosomal recessive nonsyndromic hearing loss 84A 0 trials
- Autosomal recessive nonsyndromic hearing loss 84B 0 trials
- Autosomal recessive nonsyndromic hearing loss 85 0 trials
- Autosomal recessive nonsyndromic hearing loss 86 0 trials
- Autosomal recessive nonsyndromic hearing loss 88 0 trials
- Autosomal recessive nonsyndromic hearing loss 89 0 trials
- Autosomal recessive nonsyndromic hearing loss 91 0 trials
- Autosomal recessive nonsyndromic hearing loss 96 0 trials
- Autosomal recessive nonsyndromic hearing loss 97 0 trials
- Autosomal recessive nonsyndromic hearing loss 98 0 trials
- Hearing loss, autosomal recessive 100 0 trials
- Hearing loss, autosomal recessive 106 0 trials
- Hearing loss, autosomal recessive 107 0 trials
- Hearing loss, autosomal recessive 108 0 trials
- Hearing loss, autosomal recessive 109 0 trials
- Hearing loss, autosomal recessive 110 0 trials
- Hearing loss, autosomal recessive 111 0 trials
- Hearing loss, autosomal recessive 112 0 trials
- Hearing loss, autosomal recessive 113 0 trials
- Hearing loss, autosomal recessive 114 0 trials
- Hearing loss, autosomal recessive 115 0 trials
- Hearing loss, autosomal recessive 116 0 trials
- Hearing loss, autosomal recessive 117 0 trials
- Hearing loss, autosomal recessive 119 0 trials
- Hearing loss, autosomal recessive 120 0 trials
- Hearing loss, autosomal recessive 121 0 trials
- Hearing loss, autosomal recessive 122 0 trials
- Hearing loss, autosomal recessive 123 0 trials
- Hearing loss, autosomal recessive 125 0 trials
- Hearing loss, autosomal recessive 57 0 trials
- Hearing loss, autosomal recessive 94 0 trials
- Hearing loss, autosomal recessive 99 0 trials
-
Usher syndrome 14 trials · 16 incl. sub-types
5 sub-types
- Usher syndrome type 1 0 trials · 3 incl. sub-types Sub-types →
- Usher syndrome type 2 2 trials · 3 incl. sub-types Sub-types →
- Usher syndrome type 3 0 trials Sub-types →
- Usher syndrome, type 4 0 trials
- Retinitis pigmentosa-deafness syndrome 0 trials
-
Netherton syndrome 15 trials
-
Niemann-Pick disease type C 12 trials · 13 incl. sub-types
7 sub-types
- Niemann-Pick disease, type C1 2 trials
- Niemann-Pick disease, type C2 1 trial
- Niemann-Pick disease type C, adult neurologic onset 0 trials
- Niemann-Pick disease type C, juvenile neurologic onset 0 trials
- Niemann-Pick disease type C, late infantile neurologic onset 0 trials
- Niemann-Pick disease type C, severe early infantile neurologic onset 0 trials
- Niemann-Pick disease type C, severe perinatal form 0 trials
-
Aicardi-Goutieres syndrome 9 trials
10 sub-types
- Aicardi-Goutieres syndrome 1 2 trials Sub-types →
- Aicardi-Goutieres syndrome 2 0 trials
- Aicardi-Goutieres syndrome 3 0 trials
- Aicardi-Goutieres syndrome 4 0 trials
- Aicardi-Goutieres syndrome 5 0 trials
- Aicardi-Goutieres syndrome 6 0 trials
- Aicardi-Goutieres syndrome 7 0 trials
- Aicardi-Goutieres syndrome 8 0 trials
- Aicardi-Goutieres syndrome 9 0 trials
- Basal ganglia calcification, idiopathic, childhood-onset 0 trials
-
Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types
2 sub-types
- Zellweger spectrum disorders 6 trials · 7 incl. sub-types Sub-types →
- Non-Zellweger spectrum disorder 0 trials · 1 incl. sub-types Sub-types →
-
Autosomal recessive primary microcephaly 0 trials · 8 incl. sub-types
29 sub-types
- Microcephaly with or without short stature 0 trials · 8 incl. sub-types Sub-types →
- Microcephalic primordial dwarfism due to ZNF335 deficiency 0 trials
- Microcephaly 1, primary, autosomal recessive 0 trials
- Microcephaly 11, primary, autosomal recessive 0 trials
- Microcephaly 12, primary, autosomal recessive 0 trials
- Microcephaly 13, primary, autosomal recessive 0 trials
- Microcephaly 14, primary, autosomal recessive 0 trials
- Microcephaly 15, primary, autosomal recessive 0 trials
- Microcephaly 16, primary, autosomal recessive 0 trials
- Microcephaly 17, primary, autosomal recessive 0 trials
- Microcephaly 19, primary, autosomal recessive 0 trials
- Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 trials
- Microcephaly 20, primary, autosomal recessive 0 trials
- Microcephaly 21, primary, autosomal recessive 0 trials
- Microcephaly 22, primary, autosomal recessive 0 trials
- Microcephaly 23, primary, autosomal recessive 0 trials
- Microcephaly 24, primary, autosomal recessive 0 trials
- Microcephaly 25, primary, autosomal recessive 0 trials
- Microcephaly 28, primary, autosomal recessive 0 trials
- Microcephaly 29, primary, autosomal recessive 0 trials
- Microcephaly 3, primary, autosomal recessive 0 trials
- Microcephaly 30, primary, autosomal recessive 0 trials
- Microcephaly 31, primary, autosomal recessive 0 trials
- Microcephaly 4, primary, autosomal recessive 0 trials
- Microcephaly 5, primary, autosomal recessive 0 trials
- Microcephaly 7, primary, autosomal recessive 0 trials
- Microcephaly 8, primary, autosomal recessive 0 trials
- Microcephaly 9, primary, autosomal recessive 0 trials
- Microcephaly with simplified gyral pattern 0 trials
-
Bardet-Biedl syndrome 6 trials · 7 incl. sub-types
22 sub-types
- Bardet-Biedl syndrome 1 1 trial
- Bardet-Biedl syndrome 10 0 trials
- Bardet-Biedl syndrome 11 0 trials
- Bardet-Biedl syndrome 12 0 trials
- Bardet-Biedl syndrome 13 0 trials
- Bardet-Biedl syndrome 14 0 trials
- Bardet-Biedl syndrome 15 0 trials
- Bardet-Biedl syndrome 16 0 trials
- Bardet-Biedl syndrome 17 0 trials
- Bardet-Biedl syndrome 18 0 trials
- Bardet-Biedl syndrome 19 0 trials
- Bardet-Biedl syndrome 2 0 trials
- Bardet-Biedl syndrome 20 0 trials
- Bardet-Biedl syndrome 22 0 trials
- Bardet-Biedl syndrome 3 0 trials
- Bardet-Biedl syndrome 4 0 trials
- Bardet-Biedl syndrome 5 0 trials
- Bardet-Biedl syndrome 6 0 trials
- Bardet-Biedl syndrome 7 0 trials
- Bardet-Biedl syndrome 8 0 trials
- Bardet-Biedl syndrome 9 0 trials
- Bardet-biedl syndrome 21 0 trials
-
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 6 trials · 7 incl. sub-types
4 sub-types
-
RPE65-related recessive retinopathy 5 trials · 7 incl. sub-types
2 sub-types
- Leber congenital amaurosis 2 2 trials
- Retinitis pigmentosa 20 0 trials
-
Leukocyte adhesion deficiency 3 trials · 7 incl. sub-types
3 sub-types
- Leukocyte adhesion deficiency 1 7 trials
- Leukocyte adhesion deficiency type II 2 trials
- Leukocyte adhesion deficiency 3 0 trials
-
Cockayne syndrome 6 trials
4 sub-types
- Cockayne spectrum with or without cerebrooculofacioskeletal syndrome 0 trials
- Cockayne syndrome type 1 0 trials
- Cockayne syndrome type 2 0 trials
- Cockayne syndrome type 3 0 trials
-
2 sub-types
- Polycystic kidney disease 4 0 trials
- Polycystic kidney disease 5 0 trials
-
Autosomal recessive hypophosphatemic rickets 5 trials · 6 incl. sub-types
2 sub-types
-
Papillon-Lefevre disease 5 trials
-
Shwachman-Diamond syndrome 5 trials
3 sub-types
- DNAJC21-related Shwachman Diamond syndrome 0 trials
- Shwachman-Diamond syndrome 1 0 trials
- Shwachman-Diamond syndrome 2 0 trials
-
Niemann-Pick disease type A 4 trials
-
Nephronophthisis 4 trials
18 sub-types
- Nephronophthisis 1 4 trials
- Late-onset nephronophthisis 0 trials
- Nephronophthisis 11 0 trials
- Nephronophthisis 12 0 trials
- Nephronophthisis 13 0 trials
- Nephronophthisis 14 0 trials
- Nephronophthisis 15 0 trials
- Nephronophthisis 16 0 trials
- Nephronophthisis 18 0 trials
- Nephronophthisis 19 0 trials
- Nephronophthisis 2 0 trials
- Nephronophthisis 20 0 trials
- Nephronophthisis 3 0 trials
- Nephronophthisis 4 0 trials
- Nephronophthisis 7 0 trials
- Nephronophthisis 9 0 trials
- Nephronophthisis-like nephropathy 1 0 trials
- Nephronophthisis-like nephropathy 2 0 trials
-
Nephropathic cystinosis 4 trials
2 sub-types
- Juvenile nephropathic cystinosis 0 trials
- Nephropathic infantile cystinosis 0 trials
-
Neuronopathy, distal hereditary motor, autosomal recessive 0 trials · 4 incl. sub-types
13 sub-types
- Autosomal recessive distal spinal muscular atrophy 1 2 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 8 2 trials
- COQ7-related distal hereditary motor neuropathy 0 trials
- Autosomal recessive distal spinal muscular atrophy 2 0 trials
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 10 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 3 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 4 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 5 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 7 0 trials
- Neuronopathy, distal hereditary motor, autosomal recessive 9 0 trials
- Spinal muscular atrophy, distal, autosomal recessive, 6 0 trials
-
Hutchinson-Gilford progeria syndrome 3 trials
-
Sjogren-Larsson syndrome 3 trials
-
Triple-A syndrome 3 trials
-
Autosomal recessive severe congenital neutropenia 0 trials · 3 incl. sub-types
6 sub-types
- Kostmann syndrome 3 trials
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 0 trials
- Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency 0 trials
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 0 trials
- Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 0 trials
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome 0 trials
-
Werner syndrome 2 trials
-
Autosomal recessive Alport syndrome 2 trials
-
2 sub-types
- Sideroblastic anemia 2 0 trials
- Sideroblastic anemia 3 0 trials
-
Hypercalcemia, infantile 2 trials
2 sub-types
- Hypercalcemia, infantile, 1 0 trials
- Hypercalcemia, infantile, 2 0 trials
-
Odonto-onycho-dermal dysplasia 2 trials
-
6 sub-types
- Proteasome-associated autoinflammatory syndrome 1 1 trial
- Proteasome-associated autoinflammatory syndrome 2 0 trials
- Proteasome-associated autoinflammatory syndrome 3 0 trials
- Proteasome-associated autoinflammatory syndrome 4 0 trials
- Proteasome-associated autoinflammatory syndrome 5 0 trials
- Proteasome-associated autoinflammatory syndrome 6 0 trials
-
Senior-Loken syndrome 1 trial · 2 incl. sub-types
9 sub-types
- Senior-Loken syndrome 1 1 trial
- Senior-Loken syndrome 4 0 trials
- Senior-Loken syndrome 5 0 trials
- Senior-Loken syndrome 6 0 trials
- Senior-Loken syndrome 7 0 trials
- Senior-Loken syndrome 8 0 trials
- Senior-Loken syndrome 9 0 trials
- Nephronophthisis 15 0 trials
- Senior-loken syndrome 3 0 trials
-
Autosomal recessive intermediate Charcot-Marie-Tooth disease 0 trials · 2 incl. sub-types
4 sub-types
- Charcot-Marie-Tooth disease recessive intermediate A 0 trials · 2 incl. sub-types Sub-types →
- Charcot-Marie-Tooth disease recessive intermediate B 0 trials
- Charcot-Marie-Tooth disease recessive intermediate C 0 trials
- Charcot-Marie-Tooth disease recessive intermediate D 0 trials
-
Autosomal recessive osteopetrosis 0 trials · 2 incl. sub-types
10 sub-types
- Autosomal recessive osteopetrosis 1 1 trial
- Autosomal recessive osteopetrosis 2 1 trial
- Autosomal recessive osteopetrosis 3 0 trials
- Autosomal recessive osteopetrosis 4 0 trials
- Autosomal recessive osteopetrosis 5 0 trials
- Autosomal recessive osteopetrosis 6 0 trials
- Autosomal recessive osteopetrosis 7 0 trials
- Autosomal recessive osteopetrosis 8 0 trials
- Leukocyte adhesion deficiency 3 0 trials
- Osteopetrosis, autosomal recessive 9 0 trials
-
Autosomal recessive titinopathy 0 trials · 2 incl. sub-types
7 sub-types
- Autosomal recessive limb-girdle muscular dystrophy type 2J 1 trial
- Early-onset myopathy with fatal cardiomyopathy 1 trial
- Emery-Dreifuss-like muscular dystrophy 0 trials
- Autosomal recessive centronuclear myopathy 0 trials Sub-types →
- Autosomal recessive distal titinopathy 0 trials
- Classic multiminicore myopathy 0 trials
- Titinopathy with congenital contractures 0 trials
-
Craniosynostosis syndrome, autosomal recessive 0 trials · 2 incl. sub-types
2 sub-types
- Antley-Bixler syndrome 2 trials Sub-types →
- Cranioectodermal dysplasia 0 trials Sub-types →
-
Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types
4 sub-types
- Methylcobalamin deficiency type cblE 2 trials
- Methylcobalamin deficiency type cblG 2 trials
- Homocystinuria-megaloblastic anemia cblD type 0 trials
- Methylcobalamin deficiency type cblDv1 0 trials
-
Alstrom syndrome 1 trial
-
COFS syndrome 1 trial
5 sub-types
- Cerebrooculofacioskeletal syndrome 1 0 trials
- Cerebrooculofacioskeletal syndrome 2 0 trials
- Cerebrooculofacioskeletal syndrome 3 0 trials
- Cerebrooculofacioskeletal syndrome 4 0 trials
- Xeroderma pigmentosum group G 0 trials
-
Ellis-van Creveld syndrome 1 trial
1 sub-type
- Jeune syndrome situs inversus 0 trials
-
HELIX syndrome 1 trial
-
Meier-Gorlin syndrome 1 trial
9 sub-types
- Meier-Gorlin syndrome 1 0 trials
- Meier-Gorlin syndrome 2 0 trials
- Meier-Gorlin syndrome 3 0 trials
- Meier-Gorlin syndrome 4 0 trials
- Meier-Gorlin syndrome 5 0 trials
- Meier-Gorlin syndrome 6 0 trials
- Meier-Gorlin syndrome 7 0 trials
- Meier-Gorlin syndrome 8 0 trials
- Meier-Gorlin syndrome 9 0 trials
-
Niemann-Pick disease type B 1 trial
-
Nijmegen breakage syndrome 1 trial
-
3 sub-types
-
Beta-ketothiolase deficiency 1 trial
-
Cartilage-hair hypoplasia 1 trial
1 sub-type
-
Familial adenomatous polyposis 2 1 trial
-
Human HOXA1 syndromes 1 trial
1 sub-type
- Bosley-Salih-Alorainy syndrome 0 trials
-
Hyper-IgM syndrome type 2 1 trial
-
Immunodeficiency 31B 1 trial
-
4 sub-types
- Immunodeficiency-centromeric instability-facial anomalies syndrome 1 0 trials
- Immunodeficiency-centromeric instability-facial anomalies syndrome 2 0 trials
- Immunodeficiency-centromeric instability-facial anomalies syndrome 3 0 trials
- Immunodeficiency-centromeric instability-facial anomalies syndrome 4 0 trials
-
GUCY2D-related recessive retinopathy 0 trials · 1 incl. sub-types
2 sub-types
-
Seckel syndrome 0 trials · 1 incl. sub-types
12 sub-types
- Seckel syndrome 7 1 trial
- Seckel syndrome 1 0 trials
- Seckel syndrome 10 0 trials
- Seckel syndrome 11 0 trials
- Seckel syndrome 2 0 trials
- Seckel syndrome 4 0 trials
- Seckel syndrome 5 0 trials
- Seckel syndrome 6 0 trials
- Seckel syndrome 8 0 trials
- Seckel syndrome 9 0 trials
- Intrauterine growth retardation with increased mitomycin c sensitivity 0 trials
- Microcephaly 13, primary, autosomal recessive 0 trials
-
Autosomal recessive ocular albinism 0 trials · 1 incl. sub-types
1 sub-type
-
Autosomal recessive spastic ataxia 0 trials · 1 incl. sub-types
7 sub-types
- Charlevoix-Saguenay spastic ataxia 1 trial
- Spastic ataxia 3 0 trials
- Spastic ataxia 4 0 trials
- Spastic ataxia 5 0 trials
- Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 trials
- Spastic ataxia-corneal dystrophy syndrome 0 trials
- Spastic ataxia-dysarthria due to glutaminase deficiency 0 trials
-
Congenital non-bullous ichthyosiform erythroderma 0 trials · 1 incl. sub-types
6 sub-types
- Autosomal recessive congenital ichthyosis 6 1 trial
- Autosomal recessive congenital ichthyosis 10 0 trials
- Autosomal recessive congenital ichthyosis 2 0 trials
- Autosomal recessive congenital ichthyosis 3 0 trials
- Autosomal recessive congenital ichthyosis 7 0 trials
- Autosomal recessive congenital ichthyosis 9 0 trials
-
Hydrolethalus syndrome 0 trials · 1 incl. sub-types
2 sub-types
- Hydrolethalus syndrome 1 1 trial
- Hydrolethalus syndrome 2 0 trials
-
Intellectual disability, autosomal recessive 0 trials · 1 incl. sub-types
3 sub-types
-
3-M syndrome 0 trials
3 sub-types
- 3M syndrome 1 0 trials
- 3M syndrome 2 0 trials
- 3M syndrome 3 0 trials
-
ABCD syndrome 0 trials
-
2 sub-types
- Perinatal lethal hypophosphatasia 0 trials
- Severe hypophosphatasia 0 trials
-
Behr syndrome 0 trials
-
Bjornstad syndrome 0 trials
-
Bloom syndrome 0 trials
-
Bowen-Conradi syndrome 0 trials
-
CEP164-related ciliopathy 0 trials
1 sub-type
- Nephronophthisis 15 0 trials
-
CoQ-responsive OXPHOS deficiency 0 trials
-
Donnai-Barrow syndrome 0 trials
-
Donohue syndrome 0 trials
-
Fraser syndrome 0 trials
3 sub-types
- Fraser syndrome 1 0 trials
- Fraser syndrome 2 0 trials
- Fraser syndrome 3 0 trials
-
GM3 synthase deficiency 0 trials
-
Galloway-Mowat syndrome 0 trials
10 sub-types
- Galloway-Mowat syndrome 1 0 trials
- Galloway-Mowat syndrome 10 0 trials
- Galloway-Mowat syndrome 2, X-linked 0 trials
- Galloway-Mowat syndrome 3 0 trials
- Galloway-Mowat syndrome 4 0 trials
- Galloway-Mowat syndrome 5 0 trials
- Galloway-Mowat syndrome 6 0 trials
- Galloway-Mowat syndrome 7 0 trials
- Galloway-Mowat syndrome 8 0 trials
- Galloway-Mowat syndrome 9 0 trials
-
Haim-Munk syndrome 0 trials
-
IMPG1-related recessive retinopathy 0 trials
1 sub-type
- Vitelliform macular dystrophy 4 0 trials
-
Imerslund-Grasbeck syndrome type 1 0 trials
-
Imerslund-Grasbeck syndrome type 2 0 trials
-
Johanson-Blizzard syndrome 0 trials
-
Kahrizi syndrome 0 trials
-
Kilquist syndrome 0 trials
-
Laron syndrome 0 trials
-
Laurence-Moon syndrome 0 trials
-
NAD(P)HX dehydratase deficiency 0 trials
-
Naxos disease 0 trials
-
Nestor-Guillermo progeria syndrome 0 trials
-
Ochoa syndrome 0 trials
2 sub-types
- Urofacial syndrome 2 0 trials
- Urofacial syndrome type 1 0 trials
-
PHARC syndrome 0 trials
-
PROM1-related recessive retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 41 0 trials
-
Pendred syndrome 0 trials
-
Perrault syndrome 0 trials
7 sub-types
- Perrault syndrome 1 0 trials
- Perrault syndrome 2 0 trials
- Perrault syndrome 3 0 trials
- Perrault syndrome 4 0 trials
- Perrault syndrome 5 0 trials
- Perrault syndrome 6 0 trials
- Perrault syndrome 7 0 trials
-
Pierson syndrome 0 trials
-
RP1-related recessive retinopathy 0 trials
-
Roberts-SC phocomelia syndrome 0 trials
-
1 sub-type
- Congenital myasthenic syndrome 16 0 trials
-
Schwartz-Jampel syndrome 0 trials
2 sub-types
- Schwartz-Jampel syndrome type 1 0 trials
- Stüve-Wiedemann syndrome 1 0 trials
-
Schöpf-Schulz-Passarge syndrome 0 trials
-
UV-sensitive syndrome 0 trials
3 sub-types
- UV-sensitive syndrome 1 0 trials
- UV-sensitive syndrome 2 0 trials
- UV-sensitive syndrome 3 0 trials
-
Uner Tan Syndrome 0 trials
-
Vici syndrome 0 trials
-
Warburg micro syndrome 0 trials
4 sub-types
- Warburg micro syndrome 1 0 trials
- Warburg micro syndrome 2 0 trials
- Warburg micro syndrome 3 0 trials
- Warburg micro syndrome 4 0 trials
-
Wolcott-Rallison syndrome 0 trials
-
Achalasia microcephaly syndrome 0 trials
-
Acromesomelic dysplasia 2B 0 trials
-
Autosomal recessive Robinow syndrome 0 trials
-
Autosomal recessive amelia 0 trials
-
Autosomal recessive brachyolmia 0 trials
2 sub-types
- Brachyolmia type 1, Hobaek type 0 trials
- Brachyolmia type 1, toledo type 0 trials
-
Autosomal recessive cerebral atrophy 0 trials
-
4 sub-types
-
1 sub-type
-
1 sub-type
-
Autosomal recessive omodysplasia 0 trials
-
5 sub-types
-
Bifid nose, autosomal recessive 0 trials
1 sub-type
- Paramedian nasal cleft 0 trials
-
Brittle cornea syndrome 0 trials
2 sub-types
- Brittle cornea syndrome 1 0 trials
- Brittle cornea syndrome 2 0 trials
-
Congenital prothrombin deficiency 0 trials
-
3 sub-types
-
De Barsy syndrome 0 trials
2 sub-types
- ALDH18A1-related de Barsy syndrome 0 trials
- PYCR1-related de Barsy syndrome 0 trials
-
Eosinophil peroxidase deficiency 0 trials
-
Hyperlipoproteinemia, type 1D 0 trials
-
Hypermanganesemia with dystonia 2 0 trials
-
Ichthyosis linearis circumflexa 0 trials
-
Inherited threoninemia 0 trials
-
Isolated hyperchlorhidrosis 0 trials
-
Lipase deficiency, combined 0 trials
-
Microcephaly and chorioretinopathy 2 0 trials
-
Microphthalmia with limb anomalies 0 trials
-
Mulibrey nanism 0 trials
-
Osteoporosis-pseudoglioma syndrome 0 trials
-
Pseudo-TORCH syndrome 0 trials
3 sub-types
- Pseudo-TORCH syndrome 1 0 trials
- Pseudo-TORCH syndrome 2 0 trials
- Pseudo-TORCH syndrome 3 0 trials
-
Rapadilino syndrome 0 trials
Most studied deeper sub-types
-
Experimental Friedreich's ataxia drug tested in kids – but trial halted early
Disease control Stopped earlyThis early-stage trial tested a drug called nomlabofusp (CTI-1601) in 18 adolescents and children with Friedreich's ataxia, a rare genetic disease that affects movement and coordination. The goal was to check safety and how the body processes the drug. However, the study was term…
Phase 1 • Sponsor: Larimar Therapeutics, Inc. • Aim: Disease control
Last updated Jul 12, 2026 00:00 UTC
-
Could a common laxative soothe gut inflammation in cystic fibrosis?
Disease control Stopped earlyThis phase 2 trial investigates whether polyethylene glycol (a laxative) can reduce intestinal inflammation in children with cystic fibrosis. The study includes children aged 4 to 17 with cystic fibrosis and pancreatic insufficiency who have elevated fecal calprotectin (a marker …
Phase 2 • Sponsor: University Hospital, Bordeaux • Aim: Disease control
Last updated Jun 27, 2026 14:01 UTC
-
Sickle cell transplant study halted after just one patient
Disease control Stopped earlyThis study tested a drug called siplizumab alongside a stem cell transplant for people with severe sickle cell disease. The goal was to see if it could prevent the body from rejecting the new cells and reduce a serious side effect called graft-versus-host disease. Only one person…
Phase 1/2 • Sponsor: Columbia University • Aim: Disease control
Last updated Jun 27, 2026 13:06 UTC
-
Experimental drug for rare skin disease fails to reach goal
Disease control Stopped earlyThis early-stage trial tested a drug called DS-2325a in 9 adults with Netherton syndrome, a rare genetic condition causing severe skin redness, scaling, and allergies. The study aimed to check safety and whether the drug could help control the disease. However, the trial was term…
Phase 1/2 • Sponsor: Daiichi Sankyo • Aim: Disease control
Last updated Jun 27, 2026 12:33 UTC
-
Cystic fibrosis drug repurposed: can a liver medication fix lung function?
Disease control Stopped earlyThis early-phase trial tested whether glycerol phenylbutyrate (Ravicti), a drug already used for urea cycle disorders, could help restore chloride transport in the nasal cells of adults with cystic fibrosis. The study enrolled 16 participants and compared low-dose Ravicti to a pl…
Phase 1/2 • Sponsor: National Jewish Health • Aim: Disease control
Last updated Jun 27, 2026 12:08 UTC
-
Gene therapy trial for cystic fibrosis halted early
Disease control Stopped earlyThis study tested a single dose of an inhaled gene therapy called BI 3720931 in adults with cystic fibrosis who cannot take standard CFTR modulator drugs. The trial was in two phases and included only 5 participants. It was terminated early, so we do not have full results on safe…
Phase 1/2 • Sponsor: Boehringer Ingelheim • Aim: Disease control
Last updated Jun 27, 2026 12:08 UTC
-
Experimental drug TPN-101 tested in rare childhood brain disease
Disease control Stopped earlyThis study tested a drug called TPN-101 (censavudine) in people with Aicardi-Goutières syndrome, a rare genetic disorder that causes severe brain inflammation. The trial enrolled only 4 participants and aimed to see if the drug could reduce immune system overactivity and check fo…
Phase 2 • Sponsor: Transposon Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
-
Sickle cell drug safety trial ends early
Disease control Stopped earlyThis study looked at the long-term safety of the drug osivelotor in people with sickle cell disease who had already taken it in an earlier trial. The goal was to track side effects and blood changes over time. However, the study was terminated early, so the full safety picture is…
Phase 2/3 • Sponsor: Pfizer • Aim: Disease control
Last updated Jun 27, 2026 11:03 UTC
-
Hope for rare skin disease: new drug shows promise in trial
Disease control Stopped earlyThis study tested a medicine called spesolimab for people with Netherton syndrome, a rare genetic skin condition causing severe redness and scaling. About 43 people aged 12 and older took part, receiving either the drug or a placebo. The goal was to see if spesolimab could reduce…
Phase 2/3 • Sponsor: Boehringer Ingelheim • Aim: Disease control
Last updated Jun 27, 2026 11:00 UTC
-
New PKU formula shows promise in managing blood levels
Disease control Stopped earlyThis study tested a new amino acid formula called PKU GOLIKE in people aged 16 and older with phenylketonuria (PKU). The goal was to see if it could better control daily swings in blood phenylalanine levels compared to standard treatment. The study was stopped early, so results a…
Sponsor: APR Applied Pharma Research s.a. • Aim: Disease control
Last updated Jun 27, 2026 11:00 UTC
-
Sickle cell drug trial in kids halted early – but data may still help
Disease control Stopped earlyThis study tested a daily pill called voxelotor in children aged 2 to 14 with sickle cell disease who had slightly abnormal blood flow in the brain. The goal was to see if the drug could improve that blood flow and reduce stroke risk. The trial was stopped early, but the results …
Phase 3 • Sponsor: Pfizer • Aim: Disease control
Last updated Jun 27, 2026 11:00 UTC
-
Virus therapy fails to advance in colorectal cancer trial
Disease control Stopped earlyThis study tested a new approach using a virus that attacks cancer cells (oncolytic immunotherapy) along with two standard drugs (atezolizumab and bevacizumab) in people with advanced colorectal cancer that had stopped responding to other treatments. The trial was stopped early a…
Phase 2 • Sponsor: Replimune, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:01 UTC
-
Cancer drug may tame sickle cell pain, early study hints
Disease control Stopped earlyThis small pilot study tested whether imatinib, a drug used for certain cancers, could reduce painful blockages in blood vessels (vaso-occlusive crises) in people with sickle cell anemia. Seven participants aged 18–25 took the drug for 6 months while researchers measured changes …
Phase 1/2 • Sponsor: Indiana University • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
-
Sickle cell drug candidate tested in first human trial – but study halted early
Disease control Stopped earlyThis was a first-in-human study testing a single dose of an experimental drug called GSK4172239D in 11 people with sickle cell disease. The main goals were to check safety and how the drug moves through the body. The study was terminated early, so results are limited.
Phase 1 • Sponsor: GlaxoSmithKline • Aim: Disease control
Last updated Jun 27, 2026 08:13 UTC
-
Experimental gene therapy for rare muscle disease shows early promise but study halted
Disease control Stopped earlyThis study tested a gene therapy called SRP-9003 for people with limb-girdle muscular dystrophy type 2E (LGMD2E), a rare genetic disease that causes muscle weakness. The treatment aimed to deliver a working gene to muscle cells to help them produce a missing protein. Only 6 peopl…
Phase 1/2 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:12 UTC
-
Sickle cell gene therapy trial halted after just 4 patients
Disease control Stopped earlyThis early-phase trial tested a gene-edited stem cell product called OTQ923 in 4 people with severe sickle cell disease. The goal was to boost fetal hemoglobin to reduce painful crises and other complications. The study was terminated early, so we have limited data on safety and …
Phase 1 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 08:09 UTC
-
Sickle cell drug oxbryta tracked in real life: what happened?
Disease control Stopped earlyThis study followed 265 people with sickle cell disease who were taking Oxbryta (voxelotor) as part of their normal care. Researchers wanted to see how the drug affected hemoglobin levels, sickle cell complications, and overall health over up to 5 years. The study was observation…
Sponsor: Pfizer • Aim: Disease control
Last updated Jun 27, 2026 08:07 UTC
-
Cystic fibrosis drug trial halted early
Disease control Stopped earlyThis study tested an experimental drug called ARO-ENaC in healthy volunteers and people with cystic fibrosis. The goal was to see if it is safe and helps lung function. The trial was stopped early, so results are limited.
Phase 1/2 • Sponsor: Arrowhead Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 08:04 UTC
-
Sickle cell drug inclacumab safety checked in long-term study
Disease control Stopped earlyThis study looks at the long-term safety of inclacumab in people with sickle cell disease who have already taken the drug in a previous study. It tracks side effects and how often pain crises occur. The goal is to see if long-term use is safe and helps control the disease.
Phase 3 • Sponsor: Pfizer • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
-
Sickle cell drug voxelotor tested for brain benefits in kids – study cut short
Disease control Stopped earlyThis study looked at whether voxelotor, a daily pill for sickle cell anemia, can improve blood flow and oxygen supply to the brain in children. The trial planned to enroll 22 participants aged 4 to 30 years with a severe form of sickle cell disease. However, the study was termina…
Phase 2 • Sponsor: Emory University • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
-
Experimental drug roscovitine tested in cystic fibrosis patients
Disease control Stopped earlyThis phase II trial tested an experimental drug called roscovitine in 36 adults with cystic fibrosis who have a common genetic mutation and a chronic lung infection. The goal was to check the safety of different doses given in short cycles. The study was terminated early, so its …
Phase 2 • Sponsor: University Hospital, Brest • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
-
Growth hormone trial for CF wasting halted early
Disease control Stopped earlyThis small Phase 1 trial tested growth hormone in 5 adults with cystic fibrosis who were underweight. The goal was to see if the hormone could help them gain weight and muscle, improve their quality of life, and monitor effects on lung function and diabetes. The study was termina…
Phase 1 • Sponsor: University of Massachusetts, Worcester • Aim: Disease control
Last updated Jun 27, 2026 08:01 UTC
-
Sickle cell drug voxelotor tested for Long-Term safety
Disease control Stopped earlyThis study looked at the long-term safety of voxelotor (a daily pill) in 179 people with sickle cell disease who had already taken it in a previous trial. Participants continued taking the drug and were monitored for side effects and complications like pain crises. The trial was …
Phase 3 • Sponsor: Pfizer • Aim: Disease control
Last updated Jun 27, 2026 07:58 UTC
-
Sickle cell drug voxelotor tested for Long-Term safety – but trial ends early
Disease control Stopped earlyThis study looked at the long-term safety of the drug voxelotor in 162 people with sickle cell disease who had already taken it in earlier trials. Everyone received voxelotor once daily. The main goal was to track side effects. The trial was terminated early, so the full safety p…
Phase 3 • Sponsor: Pfizer • Aim: Disease control
Last updated Jun 27, 2026 07:57 UTC
-
Experimental cell therapy targets deadly childhood brain cancer
Disease control Stopped earlyThis early-phase trial tested a new immunotherapy approach for children with DIPG, a rare and aggressive brain stem tumor. After standard radiation and chemotherapy, patients received special vaccines and immune cells designed to attack the tumor. The study was small (11 particip…
Phase 1 • Sponsor: University of Florida • Aim: Disease control
Last updated Jun 27, 2026 07:55 UTC
-
Experimental gene therapy for rare muscle disease tested in just 2 people
Disease control Stopped earlyThis was a very early (Phase 1) study testing a gene therapy called SRP-6004 for people with limb girdle muscular dystrophy type 2B/R2, a rare muscle-weakening disease. The goal was to see if a single IV infusion of the therapy is safe and can help the body produce a missing prot…
Phase 1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 26, 2026 14:20 UTC
-
Experimental gene therapy tested for rare muscular dystrophy
Disease control Stopped earlyThis early-stage trial tested a gene therapy called SRP-9004 in just 4 people with limb girdle muscular dystrophy type 2D/R3, a rare muscle-weakening disease. The main goal was to check safety, not effectiveness. The study was terminated early, so results are limited.
Phase 1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 26, 2026 13:47 UTC
-
Breathing machine may ease lung risk for kids with sickle cell
Prevention Stopped earlyThis study tested whether a non-invasive breathing machine (ventilation) could prevent acute chest syndrome, a serious lung complication, in children with sickle cell disease who were hospitalized for severe pain. The standard prevention is spirometry, which requires active deep …
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Prevention
Last updated Jun 27, 2026 09:04 UTC
-
Nasal spray could replace needles for sickle cell pain emergencies
Symptom relief Stopped earlyThis study tested a nasal spray containing a strong painkiller (sufentanil) for adults with sickle cell disease experiencing a painful crisis. The goal was to see if it could provide faster relief than the standard gas mixture (EMONO) before giving morphine through an IV. The tri…
Phase 3 • Sponsor: University Hospital, Bordeaux • Aim: Symptom relief
Last updated Jun 27, 2026 14:01 UTC
-
Scientists dive into rare cholesterol disorders to uncover clues
Knowledge-focused Stopped earlyThis study looks at rare genetic disorders where the body can't make cholesterol properly, which can cause birth defects and learning problems. Researchers collect blood, urine, and tissue samples from affected people and their families to learn more about these conditions. The g…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 14, 2026 00:00 UTC
-
Rare skin disease study seeks to understand netherton syndrome
Knowledge-focused Stopped earlyThis study aimed to collect real-world data on Netherton Syndrome, a rare genetic skin disorder. Researchers planned to follow 4 participants over 52 weeks, measuring skin severity and other symptoms. The study was terminated early, so results are limited.
Sponsor: Boehringer Ingelheim • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:03 UTC
-
New sickle cell drug pociredir enters early human testing
Knowledge-focused Stopped earlyThis early-stage study is testing a new drug called pociredir in 24 adults with sickle cell disease. Researchers want to see how the drug moves through the body and whether taking it with food changes its effects. The goal is to gather safety and dosing information, not to treat …
Phase 1 • Sponsor: Fulcrum Therapeutics • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
-
MRI vs. CT: a safer way to track cystic fibrosis lung health?
Knowledge-focused Stopped earlyThis study looked at whether MRI scans can detect changes in the lungs of people with cystic fibrosis as well as CT scans do. CT scans use radiation, so finding a reliable alternative like MRI could mean safer monitoring over time. The study included 212 patients aged 8 and older…
Sponsor: University Hospital, Bordeaux • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:04 UTC
-
PKU diet in childhood may shape adult IQ, study finds
Knowledge-focused Stopped earlyThis study looks at adults with phenylketonuria (PKU) who were diagnosed as newborns and treated with a special diet. Researchers want to see if how long and how strictly they followed the diet as children affects their intelligence (IQ) as adults. The goal is to use this informa…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
-
Cystic fibrosis infection study halted early
Knowledge-focused Stopped earlyThis study aimed to find out how common non-tuberculous mycobacteria (NTM) infections are in people with cystic fibrosis in France. Researchers collected sputum and blood samples from 848 participants to test for NTM using culture and a new blood test. The study was terminated ea…
Sponsor: University Hospital, Brest • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:04 UTC
-
Cystic fibrosis study aims to build a research database, not test a cure
Knowledge-focused Stopped earlyThis study is for people with cystic fibrosis and their family members. Its goal is to collect medical information and biological samples during regular clinic visits. These will be stored and used by researchers to learn more about how cystic fibrosis affects the body and how it…
Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:02 UTC
-
AI stethoscope could spot lung disease patterns
Knowledge-focused Stopped earlyThis study tested whether artificial intelligence can detect and classify abnormal lung sounds in people with cystic fibrosis, COPD, or pulmonary fibrosis. Researchers recorded lung sounds with an electronic stethoscope during routine checkups and analyzed them using AI. The goal…
Sponsor: Groupe Hospitalier de la Region de Mulhouse et Sud Alsace • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:58 UTC
-
Cystic fibrosis gene fix tested in nasal cells
Knowledge-focused Stopped earlyThis study aimed to see if a new type of genetic therapy could fix a specific problem in the CFTR gene that causes cystic fibrosis. Researchers took nasal and rectal cell samples from 16 patients and tested the therapy in the lab. The study was terminated early, so we don't have …
Sponsor: University Hospital, Montpellier • Aim: Knowledge-focused
Last updated Jun 26, 2026 18:40 UTC