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)
999 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
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Sickle cell disease 343 trials
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Cystic fibrosis 285 trials
1 sub-type
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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
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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
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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
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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
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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
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Netherton syndrome 16 trials
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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
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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
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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
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RPE65-related recessive retinopathy 5 trials · 8 incl. sub-types
2 sub-types
- Leber congenital amaurosis 2 3 trials
- Retinitis pigmentosa 20 0 trials
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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 →
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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
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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
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Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 6 trials · 7 incl. sub-types
4 sub-types
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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
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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
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2 sub-types
- Polycystic kidney disease 4 0 trials
- Polycystic kidney disease 5 0 trials
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Autosomal recessive hypophosphatemic rickets 5 trials · 6 incl. sub-types
2 sub-types
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Papillon-Lefevre disease 5 trials
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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
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Niemann-Pick disease type A 4 trials
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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
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Nephropathic cystinosis 4 trials
2 sub-types
- Juvenile nephropathic cystinosis 0 trials
- Nephropathic infantile cystinosis 0 trials
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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
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Hutchinson-Gilford progeria syndrome 3 trials
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Sjogren-Larsson syndrome 3 trials
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Triple-A syndrome 3 trials
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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
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Werner syndrome 2 trials
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Autosomal recessive Alport syndrome 2 trials
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2 sub-types
- Sideroblastic anemia 2 0 trials
- Sideroblastic anemia 3 0 trials
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Hypercalcemia, infantile 2 trials
2 sub-types
- Hypercalcemia, infantile, 1 0 trials
- Hypercalcemia, infantile, 2 0 trials
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Odonto-onycho-dermal dysplasia 2 trials
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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
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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
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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
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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
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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
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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 →
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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
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Alstrom syndrome 1 trial
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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
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HELIX syndrome 1 trial
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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
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Niemann-Pick disease type B 1 trial
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Nijmegen breakage syndrome 1 trial
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3 sub-types
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Beta-ketothiolase deficiency 1 trial
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Cartilage-hair hypoplasia 1 trial
1 sub-type
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Familial adenomatous polyposis 2 1 trial
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Human HOXA1 syndromes 1 trial
1 sub-type
- Bosley-Salih-Alorainy syndrome 0 trials
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Hyper-IgM syndrome type 2 1 trial
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Immunodeficiency 31B 1 trial
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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
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GUCY2D-related recessive retinopathy 0 trials · 1 incl. sub-types
2 sub-types
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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
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Autosomal recessive ocular albinism 0 trials · 1 incl. sub-types
1 sub-type
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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
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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
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Hydrolethalus syndrome 0 trials · 1 incl. sub-types
2 sub-types
- Hydrolethalus syndrome 1 1 trial
- Hydrolethalus syndrome 2 0 trials
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Intellectual disability, autosomal recessive 0 trials · 1 incl. sub-types
3 sub-types
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3-M syndrome 0 trials
3 sub-types
- 3M syndrome 1 0 trials
- 3M syndrome 2 0 trials
- 3M syndrome 3 0 trials
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ABCD syndrome 0 trials
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2 sub-types
- Perinatal lethal hypophosphatasia 0 trials
- Severe hypophosphatasia 0 trials
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Behr syndrome 0 trials
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Bjornstad syndrome 0 trials
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Bloom syndrome 0 trials
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Bowen-Conradi syndrome 0 trials
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CEP164-related ciliopathy 0 trials
1 sub-type
- Nephronophthisis 15 0 trials
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CoQ-responsive OXPHOS deficiency 0 trials
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Donnai-Barrow syndrome 0 trials
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Donohue syndrome 0 trials
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Fraser syndrome 0 trials
3 sub-types
- Fraser syndrome 1 0 trials
- Fraser syndrome 2 0 trials
- Fraser syndrome 3 0 trials
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GM3 synthase deficiency 0 trials
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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
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Haim-Munk syndrome 0 trials
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IMPG1-related recessive retinopathy 0 trials
1 sub-type
- Vitelliform macular dystrophy 4 0 trials
-
Imerslund-Grasbeck syndrome type 1 0 trials
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Imerslund-Grasbeck syndrome type 2 0 trials
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Johanson-Blizzard syndrome 0 trials
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Kahrizi syndrome 0 trials
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Kilquist syndrome 0 trials
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Laron syndrome 0 trials
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Laurence-Moon syndrome 0 trials
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NAD(P)HX dehydratase deficiency 0 trials
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Naxos disease 0 trials
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Nestor-Guillermo progeria syndrome 0 trials
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Ochoa syndrome 0 trials
2 sub-types
- Urofacial syndrome 2 0 trials
- Urofacial syndrome type 1 0 trials
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PHARC syndrome 0 trials
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PROM1-related recessive retinopathy 0 trials
1 sub-type
- Retinitis pigmentosa 41 0 trials
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Pendred syndrome 0 trials
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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
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Pierson syndrome 0 trials
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RP1-related recessive retinopathy 0 trials
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Roberts-SC phocomelia syndrome 0 trials
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1 sub-type
- Congenital myasthenic syndrome 16 0 trials
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Schwartz-Jampel syndrome 0 trials
2 sub-types
- Schwartz-Jampel syndrome type 1 0 trials
- Stüve-Wiedemann syndrome 1 0 trials
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Schöpf-Schulz-Passarge syndrome 0 trials
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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
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Uner Tan Syndrome 0 trials
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Vici syndrome 0 trials
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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
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Wolcott-Rallison syndrome 0 trials
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Achalasia microcephaly syndrome 0 trials
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Acromesomelic dysplasia 2B 0 trials
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Autosomal recessive Robinow syndrome 0 trials
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Autosomal recessive amelia 0 trials
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Autosomal recessive brachyolmia 0 trials
2 sub-types
- Brachyolmia type 1, Hobaek type 0 trials
- Brachyolmia type 1, toledo type 0 trials
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Autosomal recessive cerebral atrophy 0 trials
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4 sub-types
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1 sub-type
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1 sub-type
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Autosomal recessive omodysplasia 0 trials
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5 sub-types
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Bifid nose, autosomal recessive 0 trials
1 sub-type
- Paramedian nasal cleft 0 trials
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Brittle cornea syndrome 0 trials
2 sub-types
- Brittle cornea syndrome 1 0 trials
- Brittle cornea syndrome 2 0 trials
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Congenital prothrombin deficiency 0 trials
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3 sub-types
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De Barsy syndrome 0 trials
2 sub-types
- ALDH18A1-related de Barsy syndrome 0 trials
- PYCR1-related de Barsy syndrome 0 trials
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Eosinophil peroxidase deficiency 0 trials
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Hyperlipoproteinemia, type 1D 0 trials
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Hypermanganesemia with dystonia 2 0 trials
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Ichthyosis linearis circumflexa 0 trials
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Inherited threoninemia 0 trials
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Isolated hyperchlorhidrosis 0 trials
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Lipase deficiency, combined 0 trials
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Microcephaly and chorioretinopathy 2 0 trials
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Microphthalmia with limb anomalies 0 trials
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Mulibrey nanism 0 trials
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Osteoporosis-pseudoglioma syndrome 0 trials
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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
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Rapadilino syndrome 0 trials
Most studied deeper sub-types
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Can a One-Time gene infusion free patients from transfusions?
Cure Not yet recruitingThis trial tests a gene therapy called YOLT-204 in people aged 14 to 35 with sickle cell disease or transfusion-dependent thalassemia. The goal is to see if a single intravenous dose can safely boost fetal hemoglobin levels, potentially reducing or eliminating the need for blood …
Sponsor: Union Hospital, Tongji Medical College, Huazhong University of Science and Technology • Aim: Cure
Last updated Aug 21, 2026 00:00 UTC
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Can a spinal injection restore movement after paralysis?
Cure Not yet recruitingThis phase 3 trial tests whether an experimental drug called KP-100IT, injected into the spinal fluid, can help people with severe acute spinal cord injuries regain function. Participants, aged 18 to 89 with a complete loss of motor and sensory function (AIS grade A), receive fiv…
Phase 3 • Sponsor: Kringle Pharma, Inc. • Aim: Cure
Last updated Jul 25, 2026 00:00 UTC
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Gene editing could cure sickle cell by boosting fetal hemoglobin
Cure Not yet recruitingThis pilot trial tests a gene-editing approach for sickle cell disease. Participants receive their own blood stem cells that have been edited to increase fetal hemoglobin, a healthy type of hemoglobin that prevents sickling. The goal is to cure the disease with a one-time treatme…
Phase 1 • Sponsor: Daniel Bauer • Aim: Cure
Last updated Jul 18, 2026 00:00 UTC
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Could a special supplement boost health in cystic fibrosis?
Disease control Not yet recruitingThis study will test whether a nutrition supplement with different forms of certain nutrients works better than standard supplements for adults with cystic fibrosis. Sixty participants will take the supplement for six weeks, and researchers will measure nutrient levels in their b…
Sponsor: Ohio State University • Aim: Disease control
Last updated Sep 21, 2026 18:00 UTC
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Can a pill replace the liquid? testing a new form of cystic fibrosis drug
Disease control Not yet recruitingResearchers are testing whether a tablet form of the experimental cystic fibrosis drug VX-581 gets into the bloodstream as well as the liquid form. Sixteen healthy adults will take both forms in a randomized order, and researchers will measure drug levels in their blood over time…
Phase 1 • Sponsor: Vertex Pharmaceuticals Incorporated • Aim: Disease control
Last updated Sep 12, 2026 00:00 UTC
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One-Shot gene therapy could free PKU patients from strict diet
Disease control Not yet recruitingThis early-phase trial tests a single injection of a gene therapy called GS1168 in 9 adults with PKU whose condition is not well controlled by diet or other treatments. The therapy uses a harmless virus to deliver a working copy of the PAH gene, which is faulty in PKU, to help th…
Early phase 1 • Sponsor: Gritgen Therapeutics Co., Ltd. • Aim: Disease control
Last updated Sep 12, 2026 00:00 UTC
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New hope for rare immune disorders: upadacitinib trial launches
Disease control Not yet recruitingThis study tests the drug upadacitinib (Rinvoq) in 30 people with rare genetic disorders that overactivate the JAK-STAT immune pathway. The trial has four phases over 12 months, including an open-label phase to find the best dose and a randomized withdrawal phase to compare the d…
Phase 1/2 • Sponsor: Lisa Satter • Aim: Disease control
Last updated Sep 10, 2026 00:00 UTC
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Can a pill target a Hard-to-Treat colorectal cancer?
Disease control Not yet recruitingThis trial tests an experimental oral drug called DES-1357 in adults with metastatic colorectal cancer that has specific genetic features (dMMR or MSI-H). The study runs in three parts: first, to find a safe dose; second, to check tolerability and early signs of tumor shrinkage; …
Phase 1/2 • Sponsor: D. E. Shaw Research, LLC • Aim: Disease control
Last updated Sep 10, 2026 00:00 UTC
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Can an eye injection slow a genetic cause of blindness?
Disease control Not yet recruitingThis trial tests the long-term safety of an experimental medicine called ultevursen, given as an injection into the eye, for people with retinitis pigmentosa caused by mutations in a gene called USH2A. The study enrolls about 81 adults and children who completed a previous 24-mon…
Phase 2 • Sponsor: Laboratoires Thea • Aim: Disease control
Last updated Sep 03, 2026 00:00 UTC
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New blood processing method could cut transfusion needs for sickle cell patients
Disease control Not yet recruitingThis study tests whether red blood cells processed to be low in oxygen (hypoxic) last longer in the body than standard cells for people with sickle cell anemia who need regular transfusions. About 48 participants aged 7 and older will receive both types of blood in a crossover de…
Sponsor: Hemanext • Aim: Disease control
Last updated Aug 19, 2026 00:00 UTC
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Can diet and vitamin c supercharge rectal cancer treatment?
Disease control Not yet recruitingThis phase 2 trial is investigating whether adding a ketogenic diet and/or high-dose intravenous vitamin C to standard chemoradiotherapy and immunotherapy can improve outcomes for patients with locally advanced rectal cancer that is mismatch repair proficient (pMMR/MSS). The stud…
Phase 2 • Sponsor: Sixth Affiliated Hospital, Sun Yat-sen University • Aim: Disease control
Last updated Aug 16, 2026 00:00 UTC
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Experimental drug aims to halt rare neurological decline
Disease control Not yet recruitingThis Phase 3 trial tests whether vatiquinone can slow the progression of Friedreich's ataxia, a rare genetic disorder that damages the nervous system and impairs movement. About 120 adults with moderate symptoms will take the drug for 24 months. Researchers will measure changes i…
Phase 3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Aug 16, 2026 00:00 UTC
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Can gene therapy free sickle cell patients from painful crises?
Disease control Not yet recruitingThis trial compares a new gene therapy to standard care in people aged 12 to 35 with severe sickle cell disease. The gene therapy uses a patient's own blood stem cells, modified to produce a therapeutic form of hemoglobin and reduce the sickling hemoglobin. The study measures how…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Aug 09, 2026 00:00 UTC
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A vibrating vest may help children with damaged lungs breathe easier
Disease control Not yet recruitingThis trial tests whether a special vibrating vest, worn around the chest, can improve lung function in children aged 6 to 12 with non-cystic fibrosis bronchiectasis — a condition where the airways are permanently widened and clogged with mucus. The vest shakes the chest at high f…
Sponsor: Sphinx university • Aim: Disease control
Last updated Jul 30, 2026 00:00 UTC
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Simple breathing device may speed recovery from a deadly sickle cell complication
Disease control Not yet recruitingThis trial investigates whether continuous positive airway pressure (CPAP) can help adults with sickle cell disease recover faster from acute chest syndrome, a serious lung complication. Participants who need extra oxygen are randomly assigned to receive either standard oxygen al…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jul 25, 2026 00:00 UTC
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Can an antioxidant pill slow blindness in usher syndrome?
Disease control Not yet recruitingThis phase 3 trial tests whether an experimental drug called NPI-001 can slow the loss of light-sensing cells in the eyes of adults with Usher syndrome, a genetic condition that causes both hearing and vision loss. About 80 participants take either NPI-001 or a placebo twice dail…
Phase 3 • Sponsor: Nacuity Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jul 19, 2026 00:00 UTC
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Could modern CF drugs make daily inhaled treatments obsolete?
Disease control Not yet recruitingThis trial investigates whether children and teens with cystic fibrosis who are already taking highly effective modulator therapy can safely use inhaled airway clearance treatments only when they have a respiratory illness, instead of every day. Participants stop their usual dail…
Sponsor: Nicole Hamblett • Aim: Disease control
Last updated Jul 12, 2026 00:00 UTC
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Blood pressure drug may help preserve insulin in cystic fibrosis
Disease control Not yet recruitingThis study tests whether verapamil, a common blood pressure medication, can help protect insulin-producing cells in people with cystic fibrosis who have early blood sugar problems or diabetes. Participants take verapamil for several weeks, and researchers measure changes in insul…
Phase 2 • Sponsor: Rhode Island Hospital • Aim: Disease control
Last updated Jul 11, 2026 00:00 UTC
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New drug aims to preserve sight in rare genetic blindness
Disease control Not yet recruitingThis phase 3 trial tests whether NPI-001, taken twice daily for 24 months, can slow the loss of light-sensing cells in the eyes of adults with Usher syndrome, a genetic condition that causes both hearing and vision loss. About 80 participants will receive either the drug or a pla…
Phase 3 • Sponsor: Nacuity Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jul 03, 2026 00:00 UTC
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Tiny tablets could make PKU management easier for patients
Disease control Not yet recruitingThis study tests a new microtablet protein substitute for people with phenylketonuria (PKU), a condition requiring a strict low-protein diet. The microtablets combine protein with vitamins and minerals, aiming to be easier to take than current liquid or powder options. About 20 a…
Sponsor: Nutricia UK Ltd • Aim: Disease control
Last updated Jun 28, 2026 00:00 UTC
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Could a simple gel boost gum healing in diabetes?
Disease control Not yet recruitingThis study tests whether adding hyaluronic acid gel to standard deep cleaning (scaling and root planing) improves gum healing in people with both diabetes and advanced gum disease. Twenty-three participants will receive the standard cleaning on all teeth, and then two gum pockets…
Sponsor: Marmara University • Aim: Disease control
Last updated Jun 27, 2026 13:05 UTC
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Gene editing breakthrough aims to stop sickle cell pain crises
Disease control Not yet recruitingThis early-stage study tests a one-time gene therapy (CS-206) in 5 teenagers with severe sickle cell disease. The treatment uses the patient's own blood stem cells, modified with a gene-editing tool, to help produce healthy red blood cells. The goal is to reduce painful blockages…
Early phase 1 • Sponsor: Children's Hospital of Fudan University • Aim: Disease control
Last updated Jun 27, 2026 12:32 UTC
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New enzyme could help digest food for those with pancreatic problems
Disease control Not yet recruitingThis study tests a new lab-made enzyme called NHS7108 in people with exocrine pancreatic insufficiency (EPI), a condition where the pancreas doesn't make enough enzymes to digest food. About 66 adults will take either NHS7108 or the standard enzyme Zenpep for 14 days each, while …
Phase 2 • Sponsor: Aimmune Nestlé Health Science US R&D, LLC • Aim: Disease control
Last updated Jun 27, 2026 12:26 UTC
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New combo therapy aims to spare organs in High-Risk rectal cancer
Disease control Not yet recruitingThis phase 3 trial tests whether short-course radiation followed by chemotherapy and an immunotherapy drug (serplulimab) works better than standard long-course chemoradiation for high-risk locally advanced rectal cancer. 612 patients will be randomly assigned to one of the two tr…
Phase 3 • Sponsor: Fudan University • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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Early screening and care for sickle cell in newborns could save lives
Disease control Not yet recruitingThis study will test 120 babies in Côte d'Ivoire for sickle cell disease using a simple point-of-care test. Babies who test positive will start comprehensive care early, including medicines and vaccines. Researchers want to see if this approach reduces serious health problems and…
Phase 4 • Sponsor: Swiss Tropical & Public Health Institute • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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New inhaled mRNA therapy aims to fix cystic fibrosis at its source
Disease control Not yet recruitingThis early-phase study tests an inhaled mRNA drug (BMD003) in 24 people aged 12 and older with cystic fibrosis. The goal is to see if it is safe and can improve lung function by delivering instructions to make a working CFTR protein. Participants will receive multiple doses and b…
Early phase 1 • Sponsor: Peking Union Medical College Hospital • Aim: Disease control
Last updated Jun 27, 2026 11:03 UTC
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Gene therapy hope for sickle cell: tiny trial tests One-Time fix
Disease control Not yet recruitingThis early study tests a gene therapy called KL003 in just 3 people with severe sickle cell disease. The therapy uses the patient's own stem cells, modified to produce healthy hemoglobin, to reduce painful crises and the need for transfusions. The main goals are to see if the tre…
Sponsor: Institute of Hematology & Blood Diseases Hospital, China • Aim: Disease control
Last updated Jun 27, 2026 09:09 UTC
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New combo therapy aims to shrink Hard-to-Treat colorectal tumors before surgery
Disease control Not yet recruitingThis study tests whether giving immunotherapy drugs (nivolumab with or without ipilimumab) or immunotherapy plus radiotherapy before surgery can improve outcomes for people with a specific genetic type of colorectal cancer called MSI-H/dMMR. About 114 participants will be randoml…
Phase 2 • Sponsor: Fudan University • Aim: Disease control
Last updated Jun 27, 2026 09:04 UTC
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Sound waves and immunotherapy join forces against deadly brain tumor
Disease control Not yet recruitingThis early-phase study tests whether combining focused ultrasound with the immunotherapy drug pembrolizumab is safe and feasible for people with recurrent glioblastoma, a severe brain cancer. Only 8 participants with a specific genetic feature (mismatch repair deficiency) will be…
Phase 1 • Sponsor: Jennifer Leddon • Aim: Disease control
Last updated Jun 27, 2026 09:01 UTC
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Could a drug combo replace the knife for some endometrial cancers?
Disease control Not yet recruitingThis study tests two immunotherapy drugs (iparomlimab and tuvonralimab) in 30 women with a specific type of endometrial cancer that is mismatch repair-deficient. The goal is to see if the treatment can make the cancer disappear or shrink enough to avoid surgery. Participants must…
Phase 2 • Sponsor: Women's Hospital School Of Medicine Zhejiang University • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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New combo therapy aims to wipe out stomach cancer before surgery
Disease control Not yet recruitingThis phase 2 trial tests two different drug combinations given before surgery for people with a specific type of stomach cancer (dMMR/MSI-H). Participants will receive the immunotherapy drug adebrelimab plus either chemotherapy or another immunotherapy drug (SHR-8068). The goal i…
Phase 2 • Sponsor: Shanghai Zhongshan Hospital • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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New drug hopes to stop bone loss in rare aging disease
Disease control Not yet recruitingThis phase 2 trial tests a drug called Progerinin in up to 5 adults with Werner syndrome, a rare condition that causes premature aging and bone loss. Participants take the drug twice daily for about a year. The main goal is to check safety and tolerability, not yet to prove it wo…
Phase 2 • Sponsor: PRG Science & Technology Co., Ltd. • Aim: Disease control
Last updated Jun 27, 2026 08:13 UTC
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Could a higher drug dose help sickle cell patients get stem cell transplants?
Disease control Not yet recruitingThis study tests whether a high dose of plerixafor can safely collect enough stem cells from people with sickle cell disease for a future transplant. Twelve patients aged 18-25 will receive the drug and have their stem cells collected through a process called apheresis. The goal …
Phase 1/2 • Sponsor: Hospital Israelita Albert Einstein • Aim: Disease control
Last updated Jun 27, 2026 08:11 UTC
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New hope for rare genetic disorder: tailored chemo before stem cell transplant
Disease control Not yet recruitingThis study tests whether a lower dose of the chemotherapy drug treosulfan, given before a stem cell transplant, can help people with Nijmegen breakage syndrome. The condition causes immune problems and a high risk of cancer. The trial will enroll 24 patients, giving a lower dose …
Phase 2 • Sponsor: Federal Research Institute of Pediatric Hematology, Oncology and Immunology • Aim: Disease control
Last updated Jun 27, 2026 08:08 UTC
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New hope for stomach cancer: immunotherapy combo targets resistant tumors
Disease control Not yet recruitingThis phase 2 trial will test a combination of immunotherapy drugs and chemotherapy given before surgery for people with a specific genetic subtype of stomach cancer (dMMR/MSI-H). The study aims to see how well this approach clears the tumor and to understand why some patients do …
Phase 2 • Sponsor: Shanghai Zhongshan Hospital • Aim: Disease control
Last updated Jun 27, 2026 08:08 UTC
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Breast cancer drug tamoxifen tested as new hope for cystic fibrosis
Disease control Not yet recruitingThis study tests whether tamoxifen citrate, a drug commonly used for breast cancer, is safe and tolerable for adults with cystic fibrosis who cannot take current CFTR modulator drugs. Thirty-five participants will take one tablet daily for six months and visit the clinic every 28…
Phase 2 • Sponsor: Azienda Ospedaliera Universitaria Integrata Verona • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Virus cocktail takes on superbugs in cystic fibrosis trial
Disease control Not yet recruitingThis early-stage study tests whether adding specially-made viruses (phages) to standard antibiotics can safely treat stubborn lung infections in adults with cystic fibrosis. About 30 participants will receive a 7-day course of both treatments. The main goal is to check safety, bu…
Phase 1 • Sponsor: University of California, San Diego • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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New drug YOLT-204 aims to reduce transfusions in blood disorders
Disease control Not yet recruitingThis early-phase trial will test a single dose of a new drug called YOLT-204 in 18 children and teens with transfusion-dependent β-thalassemia or sickle cell disease. The goal is to see if it is safe and can raise fetal hemoglobin levels enough to reduce the need for blood transf…
Early phase 1 • Sponsor: Guangzhou Women and Children's Medical Center • Aim: Disease control
Last updated Jun 27, 2026 07:51 UTC
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Urine and MRI: a new hope for spotting silent kidney injury in sickle cell kids?
Diagnosis Not yet recruitingThis study investigates whether urine tests for two biomarkers (NAG and KIM-1) and special MRI scans can detect early kidney damage in children with sickle cell disease. The goal is to find a way to identify kidney problems before they become serious, potentially allowing earlier…
Sponsor: Assiut University • Aim: Diagnosis
Last updated Aug 27, 2026 00:00 UTC
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Can a bedside ultrasound predict a deadly sickle cell complication?
Diagnosis Not yet recruitingThis study tests whether a bedside lung ultrasound, done within six hours of arriving at the emergency department, can help diagnose acute chest syndrome in adults with sickle cell disease experiencing a vaso-occlusive crisis. Acute chest syndrome is a serious lung complication t…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Diagnosis
Last updated Aug 26, 2026 00:00 UTC
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Liquid biopsies may let lynch syndrome patients skip half their colonoscopies
Diagnosis Not yet recruitingThis study tests whether annual liquid biopsies (from blood, urine, stool, and vaginal swabs) can safely replace colonoscopies every 18 months for people with Lynch syndrome. 2,000 participants will be split into two groups: one gets standard care (colonoscopy every 18 months), t…
Sponsor: UNICANCER • Aim: Diagnosis
Last updated Aug 05, 2026 00:00 UTC
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Can a simple screening test at birth save thousands of children with sickle cell disease?
Diagnosis Not yet recruitingThis study tests whether combining point-of-care screening with community-based strategies can help identify infants with sickle cell disease early and connect them to care. Researchers will screen up to 6,750 newborns in Mozambique and track their health outcomes. The goal is to…
Sponsor: St. Jude Children's Research Hospital • Aim: Diagnosis
Last updated Jul 24, 2026 00:00 UTC
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New sweat patch could make cystic fibrosis testing easier
Diagnosis Not yet recruitingThis study will test a new device called the micro Sweat Test Patch (µSTP) that measures chloride levels in sweat to help diagnose and monitor cystic fibrosis (CF). Researchers will compare the new patch to the standard sweat test in 300 newborns, children, and adults with CF. Th…
Sponsor: Emory University • Aim: Diagnosis
Last updated Jun 27, 2026 09:05 UTC
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Mini organs could solve cystic fibrosis diagnosis puzzle
Diagnosis Not yet recruitingThis study aims to develop a more accurate test for cystic fibrosis (CF) using lab-grown mini organs called organoids, made from a small piece of gut tissue. The researchers will compare this new test with current methods like sweat tests and genetic testing in 80 people who are …
Sponsor: Royal Brompton & Harefield NHS Foundation Trust • Aim: Diagnosis
Last updated Jun 27, 2026 09:05 UTC
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Mindfulness on your phone: a new test for sickle cell pain and sleep
Symptom relief Not yet recruitingThis trial tests whether a smartphone-based mindfulness program can help adolescents and young adults with sickle cell disease manage chronic pain and sleep problems. Participants are randomly assigned to either use the mindfulness app for about 8 weeks or receive usual care. The…
Sponsor: University of Illinois at Chicago • Aim: Symptom relief
Last updated Sep 21, 2026 18:00 UTC
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Can adding common pain drugs reduce morphine needs in sickle cell crises?
Symptom relief Not yet recruitingAdults with sickle cell disease often face severe pain crises that require hospital treatment with intravenous morphine. This trial compares standard morphine treatment with combinations that add paracetamol, ketamine, or nefopam. Researchers want to see if these combinations eas…
Phase 4 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Symptom relief
Last updated Sep 20, 2026 00:00 UTC
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Can tiny tablets replace protein powder for kids with PKU?
Symptom relief Not yet recruitingThis trial tests whether XPhe Piccos, a slow-release protein substitute in tiny tablets without phenylalanine, is acceptable and well-tolerated in children aged 3 and older with phenylketonuria (PKU) or hyperphenylalaninemia. Participants replace some or all of their usual protei…
Sponsor: metaX Institut fuer Diatetik GmbH • Aim: Symptom relief
Last updated Sep 05, 2026 00:00 UTC
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Can a 5-minute video or a game teach kids with sickle cell to fight pain crises?
Symptom relief Not yet recruitingThis trial tests whether short educational videos or interactive games can empower children with sickle cell disease. The goal is to help kids aged 12 to 18 understand their condition and build skills for self-care and managing pain. Researchers will measure changes in self-effic…
Sponsor: Aula Ibrahim abd alrazak • Aim: Symptom relief
Last updated Sep 05, 2026 00:00 UTC
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Can a single buprenorphine dose tame sickle cell pain?
Symptom relief Not yet recruitingThis trial tests whether a single dose of buprenorphine, given as a film inside the cheek, is safe and helps control pain in adolescents and young adults with sickle cell disease who are hospitalized for a pain crisis. Participants receive one dose of buprenorphine instead of sta…
Phase 1 • Sponsor: Natasha Archer • Aim: Symptom relief
Last updated Sep 04, 2026 00:00 UTC
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Could a simple seed ease sickle cell pain? new study hopes to find out
Symptom relief Not yet recruitingThis study will test whether eating flaxseed, a source of omega-3 fatty acids, can help reduce pain and improve daily life for children with sickle cell disease. Twenty children aged 5 to 18 will take part. The main goal is to see if it's possible for them to eat flaxseed regular…
Sponsor: University of Alabama at Birmingham • Aim: Symptom relief
Last updated Aug 23, 2026 00:00 UTC
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Can a VR app ease the pain of sickle cell disease? new study aims to find out
Symptom relief Not yet recruitingThis study tests a virtual reality app called Amani designed to help adults with sickle cell disease manage pain, emotional distress, and social isolation. Researchers will enroll 40 adults to see if the app is easy to use and helpful for improving coping skills and peer support.…
Phase 1/2 • Sponsor: Massachusetts General Hospital • Aim: Symptom relief
Last updated Aug 09, 2026 00:00 UTC
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Could a simple saltwater mist make breathing easier for lung patients?
Symptom relief Not yet recruitingThis study looks at whether adding a continuous saltwater mist to warm, humidified air can make thick lung mucus easier to clear. 35 adults hospitalized with lung conditions like COPD or cystic fibrosis will receive both treatments on separate days. Researchers will measure mucus…
Sponsor: Cliniques universitaires Saint-Luc- Université Catholique de Louvain • Aim: Symptom relief
Last updated Jul 25, 2026 00:00 UTC
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Could ketamine beat opioids for sickle cell pain in kids?
Symptom relief Not yet recruitingThis study tests whether a low-dose ketamine injection can relieve pain in children with sickle cell disease during a pain crisis better than standard opioid medications. Researchers will compare how quickly pain improves and whether fewer children need to be admitted to the hosp…
Phase 4 • Sponsor: University of Mississippi Medical Center • Aim: Symptom relief
Last updated Jul 08, 2026 00:00 UTC
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Could a VR headset ease sickle cell pain?
Symptom relief Not yet recruitingThis study explores whether using a virtual reality headset can help reduce pain for adults with sickle cell disease during a painful crisis. Participants will try different types of headset experiences—like watching a 2D video or exploring a 3D world—during their infusion center…
Sponsor: University of Maryland, Baltimore • Aim: Symptom relief
Last updated Jul 01, 2026 00:00 UTC
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Could an old antibiotic shield the brain in sickle cell disease?
Symptom relief Not yet recruitingThis study tests whether minocycline, an antibiotic that reduces brain inflammation, can safely prevent or reverse memory and thinking problems in adults with sickle cell disease. About 30 participants will take either a low dose, high dose, or placebo for one year. Researchers w…
Phase 1 • Sponsor: University of Cincinnati • Aim: Symptom relief
Last updated Jun 27, 2026 12:34 UTC
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New combo therapy aims to clear lungs and boost stamina in cystic fibrosis
Symptom relief Not yet recruitingThis study tests whether adding exercise training to a standard chest-vibration vest (HFCWO) helps people with cystic fibrosis clear mucus, cough less, and walk farther. Twenty-four adults aged 16–35 will either get the vest plus exercise or the vest alone for 8 weeks. The goal i…
Sponsor: Riphah International University • Aim: Symptom relief
Last updated Jun 27, 2026 12:05 UTC
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Remote rehab: a new hope for cystic fibrosis patients battling frailty
Symptom relief Not yet recruitingThis study tests whether an 8-week tele-rehabilitation program can improve muscle mass, reduce frailty, and enhance quality of life in adults with cystic fibrosis. Participants will do supervised exercise sessions at home via video calls three times a week. The goal is to see if …
Sponsor: King Saud University • Aim: Symptom relief
Last updated Jun 27, 2026 12:02 UTC
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New hope for sickle cell pain: could iloprost cut opioid use?
Symptom relief Not yet recruitingThis study tests if iloprost, a drug that widens blood vessels and reduces inflammation, can help adults with sickle cell disease during painful vaso-occlusive crises. About 144 participants hospitalized for a crisis will receive either iloprost or a placebo, plus standard care. …
Phase 3 • Sponsor: University Hospital, Rouen • Aim: Symptom relief
Last updated Jun 27, 2026 12:00 UTC
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Could a single dose of ketamine keep sickle cell patients out of the hospital?
Symptom relief Not yet recruitingThis study tests whether giving ketamine within an hour of pain onset can prevent hospital admission for children and young adults with sickle cell disease. 90 participants aged 6-24 will receive either ketamine or a placebo by mouth. If admitted, they can still receive standard …
Phase 3 • Sponsor: Boston Children's Hospital • Aim: Symptom relief
Last updated Jun 27, 2026 11:00 UTC
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Exercise and drug combo may fight fatigue in rare disease
Symptom relief Not yet recruitingThis study looks at whether doing aerobic exercise at home, with or without the drug omaveloxolone, can safely improve fatigue and heart-lung fitness in people with Friedreich's ataxia. About 30 adults with the condition will take part. The goal is to see if the combination helps…
Sponsor: Scott Barbuto • Aim: Symptom relief
Last updated Jun 27, 2026 09:09 UTC
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Could lying on your stomach ease a deadly sickle cell complication?
Symptom relief Not yet recruitingThis study tests whether awake prone positioning (lying on the stomach while awake) can help sickle cell patients with severe acute chest syndrome in the ICU. The approach aims to improve oxygen levels and breathing by evening out air flow in the lungs. Fifteen adults will be enr…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Symptom relief
Last updated Jun 26, 2026 13:15 UTC
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Can Real-World data reveal the best rectal cancer treatment?
Knowledge-focused Not yet recruitingThis observational study gathers information from routine care on how localized rectal cancer is treated across Austrian hospitals. It aims to document the variety of treatment approaches, including total neoadjuvant therapy and immunotherapy, and their outcomes. By analyzing thi…
Sponsor: Austrian Breast & Colorectal Cancer Study Group • Aim: Knowledge-focused
Last updated Sep 19, 2026 00:00 UTC
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Can Drug-Level testing personalize cystic fibrosis treatment?
Knowledge-focused Not yet recruitingResearchers are studying how the cystic fibrosis drugs elexacaftor, tezacaftor and ivacaftor move through the body. The trial enrolls people aged 6 and older with cystic fibrosis who carry at least one F508del mutation and already take this drug combination. Participants keep the…
Phase 4 • Sponsor: Istituto Giannina Gaslini • Aim: Knowledge-focused
Last updated Sep 16, 2026 00:00 UTC
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Can a light cap boost brain power in kids with sickle cell?
Knowledge-focused Not yet recruitingThis study tests whether shining a special light on the head (transcranial photobiomodulation) can improve oxygen use and thinking skills in children with sickle cell disease. The brain needs steady oxygen, but sickle cell can reduce blood flow. Researchers will randomly assign 6…
Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused
Last updated Sep 12, 2026 00:00 UTC
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Can stem cells from a child with progeria reveal a path to therapy?
Knowledge-focused Not yet recruitingResearchers are taking a blood sample from one child with Hutchinson-Gilford progeria syndrome, a rare condition that causes rapid premature aging. They plan to turn those blood cells into stem cells and then into disease-relevant cells like muscle and nerve cells. This lab model…
Sponsor: Bundang CHA Hospital • Aim: Knowledge-focused
Last updated Sep 12, 2026 00:00 UTC
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Can mindfulness ease trauma for Justice-Involved black teens?
Knowledge-focused Not yet recruitingThis study looks at whether mindfulness-based stress reduction can help Black teenage girls who have been involved with the justice system and their parents or caregivers. About 90 participants will report on stress, PTSD symptoms, and other outcomes before and after the program.…
Sponsor: University of Michigan • Aim: Knowledge-focused
Last updated Sep 10, 2026 00:00 UTC
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MRI could reveal a new way to ease gut troubles in cystic fibrosis
Knowledge-focused Not yet recruitingThis study tests whether MRI scans can reliably measure fluid movement in the gut of adults with cystic fibrosis, and whether the drug linaclotide changes those measurements. Linaclotide, already used for constipation, works by drawing fluid into the gut to help things move along…
Sponsor: University of Nottingham • Aim: Knowledge-focused
Last updated Aug 23, 2026 00:00 UTC
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New study investigates hidden heart risks in cystic fibrosis patients on modern drugs
Knowledge-focused Not yet recruitingThis study looks at whether people with cystic fibrosis (CF) who take newer modulator drugs are developing heart disease. Researchers will use ultrasound to measure blood vessel and heart health, then repeat the tests a year later to see how things change. They will also check if…
Sponsor: Liverpool Heart and Chest Hospital NHS Foundation Trust • Aim: Knowledge-focused
Last updated Aug 16, 2026 00:00 UTC
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Video games and AI join the fight against a rare movement disorder
Knowledge-focused Not yet recruitingThis study is testing whether a new digital tool—using AI-powered video games and a single camera—can accurately measure movement problems in people with Friedreich ataxia, a rare inherited condition that affects balance and coordination. Participants play short movement-based co…
Sponsor: University of Exeter • Aim: Knowledge-focused
Last updated Jul 30, 2026 00:00 UTC
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Virtual reality fights pharmacy stigma for sickle cell patients
Knowledge-focused Not yet recruitingThis study tests whether a computer simulation can help pharmacists and pharmacy students better understand the pain struggles of sickle cell disease patients. About 200 healthcare professionals will use a point-of-view simulation and then complete surveys to see if their misconc…
Sponsor: Ohio State University • Aim: Knowledge-focused
Last updated Jul 03, 2026 00:00 UTC
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Air pollution may worsen cystic fibrosis in kids, study hopes to find out
Knowledge-focused Not yet recruitingThis study will enroll 200 children with cystic fibrosis (100 Hispanic, 100 non-Hispanic white) to measure indoor and outdoor air pollution and see how it relates to lung function, inflammation, and airway bacteria. Researchers hope to understand why Hispanic children often have …
Sponsor: Seattle Children's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:02 UTC
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Scientists track hidden threat of antibiotic resistance in lung patients
Knowledge-focused Not yet recruitingThis study follows people with chronic lung diseases like bronchiectasis, cystic fibrosis, and COPD to understand how bacteria become resistant to antibiotics. Researchers will collect samples and health data over time to map resistance patterns and genetic causes. The goal is to…
Sponsor: Imperial College London • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:01 UTC
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Stomach cancer study may spare some patients unnecessary surgery
Knowledge-focused Not yet recruitingThis study looks at whether a tumor's DNA repair status (MMR) changes how well the presence of cancer cells in lymph vessels predicts spread to lymph nodes in stomach cancer. Researchers will review medical records of 3,000 patients who had surgery. The goal is to improve risk as…
Sponsor: Shanghai Zhongshan Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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New study aims to track dangerous infections in kids with sickle cell disease
Knowledge-focused Not yet recruitingThis study will look at medical records of 350 children with sickle cell disease in France who had serious bacterial infections between 2020 and 2025. The goal is to find out which bacteria are causing these infections today, especially with new vaccines available. The results co…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:08 UTC
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How strong should you be? new study aims to find out
Knowledge-focused Not yet recruitingThis study will measure leg and handgrip strength in about 2,800 healthy adults and people with chronic lung diseases across Spain, Portugal, and Italy. Researchers want to create normal muscle strength values for these populations and see if the same standards can apply to peopl…
Sponsor: University of Alcala • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:05 UTC
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Tailoring sickle cell drug doses: a new hope for nigerian patients
Knowledge-focused Not yet recruitingThis study looks at how genetic differences affect the way Nigerian sickle cell patients respond to hydroxyurea, a common treatment. Researchers will monitor 100 patients to build a computer model that predicts the best dose for each person. The goal is to reduce side effects and…
Sponsor: Ochuko Orherhe • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:26 UTC
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Can a 90-Minute training improve care for kids with sickle cell?
Knowledge-focused Not yet recruitingThis study tests a 90-minute virtual training for healthcare providers that teaches them to see each patient's unique perspective and communicate more clearly. The goal is to improve how doctors talk to children with sickle cell disease. Thirty providers from three hospitals will…
Sponsor: Connecticut Children's Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:25 UTC
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Breathing test may replace overnight sleep studies for CPAP settings
Knowledge-focused Not yet recruitingThis study looks at whether a quick, non-invasive breathing test called impulse oscillometry (IOS) can help doctors find the right pressure settings for sleep apnea machines. Currently, patients often need an overnight sleep study to determine the correct pressure. The study will…
Sponsor: Mustafa Kemal University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:24 UTC
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Rare skin disease patients develop even rarer lymphoma – scientists investigate why
Knowledge-focused Not yet recruitingThis study looks at the blood immune cells of 10 adults with a rare inherited skin condition called NIPAL4 ichthyosis. Researchers want to understand why three patients with this skin disease also developed a very rare lymphoma (Sezary syndrome). By describing the normal immune c…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:02 UTC
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Anemia may skew diabetes test results, new study warns
Knowledge-focused Not yet recruitingThis study looks at how different types of anemia—like iron deficiency or thalassemia—can change HbA1c levels, a common test for diabetes, in people who do not have diabetes. Researchers will compare HbA1c results between 100 non-diabetic adults with various anemias and a healthy…
Sponsor: Sohag University • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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New MRI method could track cystic fibrosis lung damage without X-Rays
Knowledge-focused Not yet recruitingThis study explores whether MRI can produce clear images of the lungs and airways in people with cystic fibrosis (CF) and healthy volunteers. Researchers will use computer assistance to measure airway size and shape, and repeat the MRI two years later to see if changes occur. A s…
Sponsor: The Hospital for Sick Children • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC
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PKU mystery: why do some patients thrive despite high phe levels?
Knowledge-focused Not yet recruitingThis study looks at how blood phenylalanine (Phe) levels affect thinking, emotions, and daily functioning in adults with PKU. Researchers will ask 30 adults with PKU and their relatives to complete questionnaires. The goal is to understand why some people with high Phe levels hav…
Sponsor: Central Hospital, Nancy, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:05 UTC
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New study to track cystic fibrosis drugs in pregnancy and breast milk
Knowledge-focused Not yet recruitingThis study looks at how cystic fibrosis medications (CFTR modulators) change in the body during pregnancy and after childbirth in 30 women. Researchers will measure drug levels in blood, breast milk, and umbilical cord blood. The goal is to understand how these drugs work in preg…
Sponsor: University of Minnesota • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:12 UTC
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New study aims to unlock secrets of sickle cell pain crises in kids
Knowledge-focused Not yet recruitingThis study will review medical records of 25 children with sickle cell disease to see how often they experience painful vaso-occlusive crises and what complications arise. Researchers hope to identify risk factors that could lead to better care. No new treatments are being tested…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC
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New study aims to unmask hidden causes of childhood joint stiffness
Knowledge-focused Not yet recruitingThis study will look at 35 children with joint problems that are not caused by inflammation, such as stiffness or deformity. Researchers will use exams, lab tests, and imaging to find the true cause, which could be rare genetic conditions like mucopolysaccharidoses or osteogenesi…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 26, 2026 17:17 UTC
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Brain speed test could transform sickle cell care
Knowledge-focused Not yet recruitingThis study examines how regular blood transfusions (exchange transfusions) affect thinking speed in adults with severe sickle cell disease. Researchers will test 85 participants remotely using a simple symbol-matching task and other cognitive assessments at different points in th…
Sponsor: Centre Hospitalier St Anne • Aim: Knowledge-focused
Last updated Jun 26, 2026 16:17 UTC