758 completed, 252 recruiting, 155 unknown, 104 terminated. 400 Not applicable, 253 Phase 2, 139 Phase 3, 117 Phase 1, 32 Phase 4.
Follow Abnormalities, Multiple: new trials by email Literature Review of Abnormalities, Multiple trials Research Report on Abnormalities, Multiple
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Epidermal Growth Factor Receptor Inhibition for Keratinopathies Erlotinib - Epidermolytic Ichthyosis, Palmoplantar Keratoderma | Phase 1 / Phase 2 | Not yet recruiting | Northwestern University | 44 | 2027-07-01 | 2026-08-03 |
| A Pilot Study to Examine the Efficacy and Tolerability of Sirolimus on Epidermal Nevi Lesions in Patients 6 Years Old and Above. sirolimus topical gel 0.2% - Epidermal Nevi | Early Phase 1 | Not yet recruiting | Northwestern University | 14 | 2027-02-01 | 2026-11-09 |
| Regulating Together for Prader-Willi Syndrome: A Group Behavioral Therapy for Emotion Dysregulation Regulating Together group therapy - Prader-Willi Syndrome | Not applicable | Recruiting | Children's Mercy Hospital Kansas City | 10 | 2027-01-01 | 2026-09-02 |
| Safety, Tolerability, and Efficacy of Oral KM-023 in Adult Patients With Pachyonychia Congenita (pEDD-PC) KM-023 - Pachyonychia Congenita | Phase 2 | Not yet recruiting | Orvida Pharma (formerly Kamari Pharma) | 10 | 2026-12-01 | 2026-10-26 |
| 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome N-acetylcysteine amide, Placebo - Retinitis Pigmentosa (RP), Usher Syndrome | Phase 3 | Not yet recruiting | Nacuity Pharmaceuticals, Inc. | 80 | 2026-12-01 | 2026-07-01 |
| Executive Function Play Opportunities for Children With Down Syndrome EXPO, EXPO Extended, EXPO Foundations - Down Syndrome, Trisomy 21 | Not applicable | Not yet recruiting | Colorado State University | 150 | 2026-12-01 | 2026-10-30 |
| A Study to Investigate the Pharmacokinetics of JMKX003142 in Healthy Participants and Participants With Hepatic Impairment JMKX003142 - ADPKD (Autosomal Dominant Polycystic Kidney Disease), Renal Edema | Phase 1 | Not yet recruiting | Jemincare | 32 | 2026-11-20 | 2026-11-02 |
| Clinical Genetics Branch Eligibility Screening Survey Melanoma, Li-Fraumeni Syndrome | Not yet recruiting | National Cancer Institute (NCI) | 1000 | 2026-11-15 | 2026-11-10 | |
| Effects of a Pacifier on Obstructive Sleep Apnea and Its Repercussions in Infants With Down Syndrome CURAPROX pacifier use, Pacifier diary, Polysomnography (PSG) to explore OSA - Obstructive Sleep Apnea, Down Syndrome (Trisomy 21) | Not applicable | Not yet recruiting | Hospices Civils de Lyon | 50 | 2026-11-02 | 2026-10-07 |
| Hematological Profile in Children With Numerical Chromosomal Disorders Down Syndrome, Turner Syndrome | Not yet recruiting | Assiut University | 158 | 2026-11-02 | 2026-10-29 | |
| GBP-213 in Patients With Autosomal Dominant Polycystic Kidney Disease GBP-213 - Autosomal Dominant Polycystic Kidney | Early Phase 1 | Not yet recruiting | RenJi Hospital | 24 | 2026-11-01 | 2026-10-23 |
| Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome N-acetyl cysteine, Placebo - Cornelia de Lange Syndrome | Phase 2 | Not yet recruiting | Johns Hopkins University | 10 | 2026-11-01 | 2026-08-14 |
| Single Session Support for Parents of Children With Neurodevelopmental Disabilities Struggling With Anxious Avoidance EMPOWER-ND - Neurodevelopmental Disorders, Autism Spectrum Disorder (ASD) | Not applicable | Not yet recruiting | Boston University Charles River Campus | 50 | 2026-11-01 | 2026-10-27 |
| Study to Evaluate Pharmacokinetics, Safety, and Tolerability of Subcutaneous Injections of Elamipretide in Pediatric Subjects With Barth Syndrome Elamipretide - Barth Syndrome | Phase 1 | Not yet recruiting | Stealth BioTherapeutics Inc. | 6 | 2026-11-01 | 2026-11-10 |
| A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome Placebo, NPI-001 - Retinitis Pigmentosa (RP), Usher Syndrome | Phase 3 | Recruiting | Nacuity Pharmaceuticals, Inc. | 80 | 2026-10-23 | 2026-11-10 |
| Absorption, Distribution, Metabolism, and Excretion of 14C-VX-407 After a Single Oral Dose 14C-VX-407 - Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Phase 1 | Recruiting | Vertex Pharmaceuticals Incorporated | 8 | 2026-10-16 | 2026-10-30 |
| SENSE-Brain Health Pro for Older Adults With Sensory Loss Brain Health Pro - Vision and Hearing Loss, Vision Impairment | Not applicable | Not yet recruiting | Université de Montréal | 300 | 2026-10-15 | 2026-10-05 |
| Escalating Doses of Memantine in Down Syndrome (MEDS-123) Memantine - Down Syndrome, Intellectual Disability | Phase 1 | Not yet recruiting | University Hospitals Cleveland Medical Center | 25 | 2026-10-14 | 2026-10-05 |
| Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene No intervention, will not receive any active study intervention, Intravitreal Injection of Ultevursen - Retinitis Pigmentosa (RP), Usher Syndrome Type 2 | Phase 2 | Not yet recruiting | Laboratoires Thea | 81 | 2026-10-05 | 2026-09-01 |
| An Open-Label Phase II Feasibility Study for the Use of Ublituximab in Adults With Down Syndrome Regression Disorder Ublituximab - Down Syndrome Regression Disorder (DSRD), Down Syndrome (Trisomy 21) | Phase 2 | Not yet recruiting | Jonathan Santoro | 20 | 2026-10-01 | 2026-09-23 |
Showing 20 of 1445. Sign in to see all of them.
Down Syndrome (433) · Polycystic Kidney, Autosomal Dominant (184) · Prader-Willi Syndrome (140) · Ciliary Motility Disorders (79) · Marfan Syndrome (61) · Polycystic Kidney Diseases (58) · von Hippel-Lindau Disease (55) · Angelman Syndrome (51) · DiGeorge Syndrome (46) · Obesity (46) · Basal Cell Nevus Syndrome (35) · Usher Syndromes (33) · Alagille Syndrome (31) · Alzheimer Disease (31) · Intellectual Disability (31)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (1441) · Congenital Abnormalities (1429) · Genetic Diseases, Inborn (1360) · Nervous System Diseases (856) · Chromosome Disorders (693) · Neurologic Manifestations (675) · Neurobehavioral Manifestations (603) · Intellectual Disability (571) · Ciliopathies (372) · Pathological Conditions, Signs and Symptoms (320) · Cardiovascular Diseases (318) · Urogenital Diseases (310) · Female Urogenital Diseases and Pregnancy Complications (309) · Female Urogenital Diseases (301)
Blood Specimen Collection (29) · Tolvaptan (21) · Surveys and Questionnaires (12) · Oxytocin (11) · Exercise (10) · Sirolimus (10) · Dexamethasone (9) · Losartan (8) · Sodium Chloride (8) · maralixibat (8) · setmelanotide (8) · Atenolol (7) · Cyclophosphamide (6) · Cytarabine (6) · Human Growth Hormone (6)
Riphah International University (48) · Assistance Publique - Hôpitaux de Paris (30) · University of Colorado, Denver (28) · University Hospital, Toulouse (23) · National Human Genome Research Institute (NHGRI) (21) · Mayo Clinic (18) · Cairo University (13) · Edimer Pharmaceuticals (13) · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (13) · Mirum Pharmaceuticals, Inc. (12) · National Cancer Institute (NCI) (12) · Otsuka Pharmaceutical Development & Commercialization, Inc. (12) · University of Kansas Medical Center (12) · University of North Carolina, Chapel Hill (12) · Mario Negri Institute for Pharmacological Research (11)
United States (698) · France (195) · Italy (109) · United Kingdom (107) · Canada (105) · Spain (95) · Germany (72) · Netherlands (61) · Australia (55) · Pakistan (52) · Belgium (50) · Turkey (Türkiye) (46) · China (40) · Denmark (31) · Japan (30)
Dorothy K Grange, MD (6) · Forbes D Porter, M.D. (6) · David Meeker, MD (5) · Ervin Epstein, MD (5) · Holm Schneider, MD (5) · Leslie G Biesecker, M.D. (5) · M. Louise Markert, MD, PhD (5) · Wen-Hann Tan, BMBS (5) · Barbara B Biesecker (4)
PMID 39356039, PMID 41385299, PMID 37250503, PMID 18035553, PMID 18424759, PMID 18557726, PMID 19066739, PMID 20236866, PMID 41348481, PMID 17284531, PMID 36191725, PMID 37349694, PMID 38837240, PMID 31014270, PMID 34783716, PMID 38671361, PMID 42002216, PMID 15100156, PMID 17911499, PMID 18155964, PMID 20978268, PMID 21903984, PMID 22005709, PMID 22281937, PMID 23477994, PMID 23607606, PMID 25834952, PMID 27053961, PMID 29718281, PMID 33232306, PMID 34649967, PMID 35396980, PMID 36961653, PMID 37729939, PMID 37919617, PMID 37986188, PMID 38072392, PMID 39271956, PMID 40377984, PMID 10417280, PMID 10586155, PMID 10973256, PMID 11562511, PMID 11740200, PMID 12183720, PMID 12520259, PMID 12578222, PMID 12642839, PMID 12702512, PMID 12820840
2023 (8), K12HD043494 (7), R01AI047040 (7), 2025 (6), R01AI054843 (6), U10CA180886 (6), 2017 (5), U54HL096458 (5), 2018 (4), R56AI047040 (4), 2016 (3), U10CA098543 (3), 2005 (2), 2014 (2), 2015 (2)