X-linked disease
MONDO:0000425X-linked form of disease.
Also known as: X-linked disease or disorder, X-linked hereditary disease, X-linked hereditary disorder, X-linked inherited disease, X-linked inherited disorder, disease or disorder, X-linked, disease, X-linked, X linked genetic diseases
327 clinical trials for this condition and its sub-types, 19 tagged with X-linked disease itself.
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Sub-types of X-linked disease
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Hemophilia A 180 trials
5 sub-types
- Severe hemophilia A 50 trials
- Moderately severe hemophilia A 4 trials
- Mild hemophilia A 2 trials
- Hemophilia A with vascular abnormality 0 trials
- Symptomatic form of hemophilia A in female carriers 0 trials
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X-linked deafness 0 trials · 32 incl. sub-types
2 sub-types
- X-linked nonsyndromic hearing loss 0 trials · 32 incl. sub-types Sub-types →
- X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome 0 trials
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Adrenoleukodystrophy 19 trials · 20 incl. sub-types
3 sub-types
- Adrenomyeloneuropathy 7 trials
- X-linked cerebral adrenoleukodystrophy 4 trials
- Isolated adrenal insufficiency 0 trials
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X-linked intellectual disability 1 trial · 15 incl. sub-types
2 sub-types
- X-linked syndromic intellectual disability 0 trials · 12 incl. sub-types Sub-types →
- Non-syndromic X-linked intellectual disability 0 trials · 3 incl. sub-types Sub-types →
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X-linked hypophosphatemic rickets 11 trials · 12 incl. sub-types
2 sub-types
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X-linked lymphoproliferative syndrome 7 trials · 11 incl. sub-types
2 sub-types
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Wiskott-Aldrich syndrome 10 trials
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X-linked erythropoietic protoporphyria 10 trials
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X-linked dominant disease 0 trials · 10 incl. sub-types
1 sub-type
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X-linked recessive disease 0 trials · 10 incl. sub-types
12 sub-types
- X-linked lymphoproliferative disease due to XIAP deficiency 4 trials
- X-linked lymphoproliferative disease due to SH2D1A deficiency 2 trials
- Blue cone monochromacy 2 trials
- Recessive X-linked ichthyosis 2 trials Sub-types →
- Brunner syndrome 0 trials
- IFAP syndrome 1, with or without BRESHECK syndrome 0 trials
- X-linked complicated spastic paraplegia type 1 0 trials
- X-linked recessive mitochondrial myopathy 0 trials
- X-linked recessive ocular albinism 0 trials
- Holoprosencephaly 13, X-linked 0 trials
- Hypophosphatemic rickets, X-linked recessive 0 trials
- Retinitis pigmentosa 6 0 trials
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Choroideremia 6 trials
2 sub-types
- Choroideremia hypopituitarism 0 trials
- Total central choroidal atrophy 0 trials
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X-linked myotubular myopathy 4 trials
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X-linked retinoschisis 4 trials
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X-linked Alport syndrome 3 trials
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Hyper-IgM syndrome type 1 3 trials
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Dyskeratosis congenita, X-linked 0 trials · 3 incl. sub-types
1 sub-type
- Hoyeraal-Hreidarsson syndrome 3 trials
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Charcot-Marie-Tooth disease type X 1 trial · 2 incl. sub-types
6 sub-types
- Charcot-Marie-Tooth disease X-linked dominant 1 1 trial
- Charcot-Marie-Tooth disease X-linked dominant 6 0 trials
- Charcot-Marie-Tooth disease X-linked recessive 2 0 trials
- Charcot-Marie-Tooth disease X-linked recessive 3 0 trials
- Charcot-Marie-Tooth disease X-linked recessive 4 0 trials
- Charcot-Marie-Tooth disease X-linked recessive 5 0 trials
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X-linked cone-rod dystrophy 0 trials · 2 incl. sub-types
4 sub-types
- Blue cone monochromacy 2 trials
- X-linked cone-rod dystrophy 1 0 trials
- X-linked cone-rod dystrophy 2 0 trials
- X-linked cone-rod dystrophy 3 0 trials
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3 sub-types
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2 sub-types
- X-linked chondrodysplasia punctata 2 1 trial
- X-linked chondrodysplasia punctata 1 0 trials
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Aarskog-Scott syndrome, X-linked 0 trials
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Aland island eye disease 0 trials
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X-linked Ehlers-Danlos syndrome 0 trials
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X-linked Opitz G/BBB syndrome 0 trials
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1 sub-type
- Adrenal hypoplasia, cytomegalic type 0 trials
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X-linked cerebellar ataxia 0 trials
9 sub-types
- X-linked intellectual disability-ataxia-apraxia syndrome 0 trials
- X-linked non progressive cerebellar ataxia 0 trials
- X-linked progressive cerebellar ataxia 0 trials
- X-linked sideroblastic anemia with ataxia 0 trials
- X-linked spinocerebellar ataxia type 3 0 trials
- X-linked spinocerebellar ataxia type 4 0 trials
- Ataxia - deafness - intellectual disability syndrome 0 trials
- Fragile X-associated tremor/ataxia syndrome 0 trials
- Spinocerebellar ataxia, X-linked 2 0 trials
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2 sub-types
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X-linked congenital hemolytic anemia 0 trials
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2 sub-types
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X-linked immunoneurologic disorder 0 trials
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X-linked mandibulofacial dysostosis 0 trials
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X-linked sideroblastic anemia 1 0 trials
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Leukemia, acute, X-linked 0 trials
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Macular dystrophy, X-linked 0 trials
Most studied deeper sub-types
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New enzyme therapy aims to reach the brain in hunter syndrome
Disease control OngoingResearchers are testing a new enzyme replacement therapy called GNR-055 in people with Hunter syndrome (MPS II), a rare inherited disorder that causes harmful sugar molecules to build up in the body. The trial enrolls about 32 patients, including those who have never had enzyme t…
Phase 2/3 • Sponsor: AO GENERIUM • Aim: Disease control
Last updated Sep 21, 2026 22:00 UTC
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Heart cell therapy shows promise for duchenne MD in major trial
Disease control OngoingThis Phase 3 trial tests a cell therapy called deramiocel (CAP-1002) in 106 boys and young men with Duchenne muscular dystrophy. Participants receive either the cell therapy or a placebo every 3 months for a year, then all can receive the therapy for another year. The goal is to …
Phase 3 • Sponsor: Capricor Inc. • Aim: Disease control
Last updated Aug 30, 2026 00:00 UTC
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Gene therapy hope for toddlers with rett syndrome
Disease control OngoingThis study tests a one-time gene therapy called TSHA-102 in girls aged 2 to 4 with Rett syndrome, a severe genetic disorder. The therapy is given as a single injection into the spine. The main goal is to check if it is safe and tolerable, and to see early signs of whether it help…
Phase 3 • Sponsor: Taysha Gene Therapies, Inc. • Aim: Disease control
Last updated Aug 21, 2026 00:00 UTC
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New gene therapy hopes to restore milestones in rett syndrome
Disease control OngoingThis study tests a one-time gene therapy called TSHA-102 in females aged 6 to under 22 with classic Rett syndrome. The goal is to see if it is safe and can help them regain or gain new developmental skills like walking or talking. Participants receive the therapy through a spinal…
Phase 3 • Sponsor: Taysha Gene Therapies, Inc. • Aim: Disease control
Last updated Jul 09, 2026 00:00 UTC
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Gene therapy trial aims to help girls with rett syndrome gain new skills
Disease control OngoingThis study tests a gene therapy called NGN-401 in 33 girls with Rett syndrome, a rare genetic disorder that affects development and movement. The therapy delivers a working copy of the MECP2 gene to try to improve skills and daily function. Researchers will measure success by whe…
Phase 3 • Sponsor: Neurogene Inc. • Aim: Disease control
Last updated Jun 27, 2026 13:06 UTC