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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Hope for duchenne: new drug targets rare gene mutation in phase 3 trial
Disease control Recruiting nowThis study tests an experimental drug called AOC 1044 for boys with Duchenne muscular dystrophy (DMD) who have a specific genetic change (exon 44 skipping). About 70 boys aged 7 to 16 who can still walk will receive either the drug or a placebo. The main goal is to see if the dru…
Phase 3 • Sponsor: Avidity Biosciences, Inc. • Aim: Disease control
Last updated Sep 17, 2026 00:00 UTC
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New hope for duchenne: targeted therapy now available for eligible patients
Disease control Expanded accessThis program provides access to an experimental drug, AOC 1044, for people with Duchenne muscular dystrophy (DMD) whose genetic mutation can be treated by skipping exon 44. The goal is to help control the disease and improve muscle function. Participants must be at least 2 years …
Sponsor: Avidity Biosciences, Inc. • Aim: Disease control
Last updated Sep 03, 2026 00:00 UTC
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Gene therapy trial offers hope for babies with rare, deadly metabolic disease
Disease control Recruiting nowThis study tests a one-time gene therapy called ECUR-506 in baby boys under 9 months old with a severe form of OTC deficiency, a genetic disorder that prevents the body from breaking down ammonia. The goal is to see if the treatment is safe and can reduce dangerous ammonia levels…
Phase 3 • Sponsor: iECURE, Inc. • Aim: Disease control
Last updated Aug 14, 2026 00:00 UTC
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New drug could help boys with duchenne walk and move longer
Disease control Recruiting nowThis study tests a new medicine called DYNE-251 in boys aged 4 to 18 with Duchenne muscular dystrophy (DMD) who can still walk. The goal is to see if it helps them move better and slows muscle damage. Participants will receive either the drug or a placebo every 4 weeks for about …
Phase 3 • Sponsor: Dyne Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:37 UTC
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New drug trial aims to ease fragile x symptoms in men
Symptom relief Recruiting nowThis study tests a new medicine called CTH120 in 30 adult men with Fragile X syndrome. The main goal is to see if the drug is safe and tolerable, while also checking if it helps improve symptoms. Participants will receive the drug and be monitored closely for side effects and cha…
Phase 2 • Sponsor: Connecta Therapeutics, S.L. • Aim: Symptom relief
Last updated Jul 19, 2026 00:00 UTC
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Hope for rett syndrome: new drug trial targets behavior and communication
Symptom relief Recruiting nowThis study tests an oral medicine called bionetide in 210 girls and women with Rett syndrome, a rare genetic disorder. The goal is to see if bionetide improves behavior and communication compared to a placebo over 12 weeks. Participants must be 5 to 20 years old and have a confir…
Phase 3 • Sponsor: Biomed Industries, Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 12:01 UTC
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Blood cell harvest could fuel future immune disease cures
Knowledge-focused Recruiting nowThis study collects blood stem cells and immune cells from healthy volunteers and patients with primary immune deficiencies or blood disorders. The cells are used in the lab to develop new gene and cell therapies. Up to 850 adults aged 18-70 will participate. The goal is to advan…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Can a single gene therapy dose keep working for 14 years?
Knowledge-focused Recruiting nowThis study follows people who received an investigational gene therapy in an earlier iECURE trial for a urea cycle disorder, a condition that can cause dangerous ammonia buildup. Researchers will track safety, side effects, and whether the therapy's effects last over up to 14.5 y…
Sponsor: iECURE, Inc. • Aim: Knowledge-focused
Last updated Sep 02, 2026 00:00 UTC
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Can a questionnaire reveal the hidden burden of a rare genetic disease in women?
Knowledge-focused Recruiting nowThis study looks at women who carry the gene for X-linked adrenoleukodystrophy (X-ALD), a rare inherited condition that mainly affects the nervous system. Although the disease is linked to the X chromosome, up to 80% of female carriers may develop symptoms like leg weakness and b…
Sponsor: Leipzig University Medical Center • Aim: Knowledge-focused
Last updated Aug 29, 2026 00:00 UTC
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Massive global registry aims to unlock secrets of rett syndrome
Knowledge-focused Recruiting nowThis study creates a large registry of people with Rett syndrome, a rare genetic disorder that causes severe intellectual and physical disabilities. Researchers will collect information from doctors and caregivers to understand how the disease progresses over time. The goal is to…
Sponsor: International Rett Syndrome Foundation • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
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New study tracks hemophilia a risks in mothers and babies
Knowledge-focused Recruiting nowThis study follows 500 mother-child pairs where the mother has a severe hemophilia A gene. It aims to understand bleeding risks during pregnancy and childbirth for mothers, and how children develop antibodies to factor VIII treatment. By observing families over time, researchers …
Sponsor: University of Washington • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:05 UTC