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
323 clinical trials for this condition and its sub-types, 18 tagged with X-linked disease itself.
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Sub-types of X-linked disease
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Hemophilia A 178 trials
5 sub-types
- Severe hemophilia A 49 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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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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3 sub-types
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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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Can an antiviral drug protect hearing in infants with congenital CMV?
Disease control Stopped earlyThis trial tests whether the antiviral drug valganciclovir can improve hearing and language outcomes in infants who have hearing loss due to congenital cytomegalovirus (CMV) infection. Infants aged 1 to 12 months with confirmed sensorineural hearing loss will receive either valga…
Phase 2 • Sponsor: Albert Park • Aim: Disease control
Last updated Aug 29, 2026 00:00 UTC
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Halted gene therapy study raises questions for AMN patients
Disease control Stopped earlyThis early-stage trial tested a gene therapy called SBT101 for adrenomyeloneuropathy (AMN), a rare nerve disease that causes walking difficulties. Eight adults received either the therapy or a sham procedure. The study was terminated early, so we have limited data on safety and e…
Phase 1/2 • Sponsor: SwanBio Therapeutics, Inc. • Aim: Disease control
Last updated Aug 28, 2026 00:00 UTC
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Can a clotting boost make surgery safer for hemophilia patients?
Disease control Stopped earlyThis trial tests whether a medication called eptacog beta can safely prevent excessive bleeding in people with hemophilia A or B who have inhibitors and need major surgery. Participants receive the drug during and after their operation, and doctors measure how well bleeding is co…
Phase 3 • Sponsor: Laboratoire français de Fractionnement et de Biotechnologies • Aim: Disease control
Last updated Aug 02, 2026 00:00 UTC
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Hemophilia drug study falls short: only 3 patients enrolled before termination
Disease control Stopped earlyThis study aimed to see if a new medicine (efanesoctocog alfa) helps people with moderate or severe hemophilia A reach their personal goals and be more physically active. It planned to enroll 35 people aged 12 to 50, but was stopped early after only 3 joined. The medicine is used…
Sponsor: Sanofi • Aim: Disease control
Last updated Jun 27, 2026 08:12 UTC
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Could home blood tests transform hemophilia care? study seeks patient views
Knowledge-focused Stopped earlyThis study looked at how patients with hemophilia A or those on blood thinners feel about monitoring their blood clotting at home. Researchers interviewed 19 people to understand their needs and hopes for a new device that could measure clotting factors. The goal was to gather in…
Sponsor: Radboud University Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:01 UTC
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Scientists hunt for clues in rare genetic brain disorder
Knowledge-focused Stopped earlyThis study aimed to observe how MECP2 duplication syndrome progresses over time by measuring biological markers in spinal fluid and blood, and by tracking changes in development, behavior, and seizures. It enrolled 29 males aged 1 month to 65 years with a confirmed genetic diagno…
Sponsor: Ionis Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC
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Rare disease mystery: scientists watch AMN progress in hopes of finding a cure
Knowledge-focused Stopped earlyThis study followed 65 adult men with a rare inherited nerve disease called AMN (a form of spastic paraplegia) to understand how their symptoms change over time. Researchers collected data on walking ability and quality of life. The goal was to fill gaps in knowledge about the di…
Sponsor: SwanBio Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC