137 completed, 32 recruiting, 29 terminated, 17 unknown. 253 Phase 2, 36 Phase 1, 34 Phase 3.
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 |
| 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 |
| 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 |
| 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 |
| Bempedoic Acid Therapy for Polycystic Kidney Disease Bempedoic Acid 180 MG Oral Tablet, Placebo Capsule(s) - ADPKD (Autosomal Dominant Polycystic Kidney Disease) | Phase 2 | Recruiting | Kenneth Hallows | 120 | 2026-09-01 | 2026-09-29 |
| A Study to Evaluate Mivelsiran in Adult Participants With Early-Stage Down Syndrome-Associated Alzheimer's Disease (DS-AD) Mivelsiran, Placebo - Down Syndrome-Associated Alzheimer's Disease (DS-AD) | Phase 2 | Recruiting | Alnylam Pharmaceuticals | 58 | 2026-08-17 | 2026-10-13 |
| Metric-Optimized Spectacle Prescriptions for Children With Down Syndrome Metric-optimized spectacles, Routine Clinical Spectacles - Refractive Error Correction, Visual Acuity | Phase 2 | Recruiting | Ohio State University | 24 | 2026-07-13 | 2026-07-20 |
| KCD (Carfilzomib/Cyclophosphamide/Dexamethasone) Regimen for the Treatment of Newly Diagnosed POEMS Syndrome CARFILZOMIB, CYCLOPHOSPHAMIDE, DEXAMETHASONE - POEMS Syndrome | Phase 2 | Recruiting | Shanghai Changzheng Hospital | 20 | 2026-06-15 | 2026-06-17 |
| An Open-label, Phase 2 Pilot Study on the Efficacy and Safety of Piclidenoson in Patients With Lowe Syndrome Piclidenoson - Lowe Syndrome | Phase 2 | Not yet recruiting | Can-Fite BioPharma | 5 | 2026-06-01 | 2026-02-18 |
| Modulation of the Immune System in Down Syndrome for Improved Outcomes and Neurodevelopment - 1 Tofacitinib Oral Solution, Placebo - Down Syndrome | Phase 2 | Recruiting | University of Colorado, Denver | 92 | 2026-05-28 | 2026-09-03 |
| A Study of CSTI-500 in Patients With Prader-Willi Syndrome CSTI-500 - Prader-Willi Syndrome | Phase 2 | Recruiting | ConSynance Therapeutics | 12 | 2026-05-18 | 2026-10-21 |
| Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD) Hematopoietic stem cell transplant (HSCT) - Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder | Phase 2 | Recruiting | Paul Szabolcs | 25 | 2026-05-04 | 2026-05-15 |
| Phase 2/3 Clinical Study of QRX003 Lotion in Subjects With Netherton Syndrome QRX003 - Netherton Syndrome | Phase 2 / Phase 3 | Recruiting | Quoin Pharmaceuticals | 16 | 2026-03-19 | 2026-09-28 |
| CAT-VHL Exploring the Role of Carbonic Anhydrase IX as Diagnostic and Theranostic Target in Von-Hippel Lindau Disease investigating the role of CAIX as target in VHL disease and in VHL-/- tumors. - VHL - Von Hippel-Lindau Syndrome | Phase 2 | Recruiting | IRCCS Ospedale San Raffaele | 38 | 2026-02-25 | 2026-03-09 |
| Treatment of Atopic Dermatitis and Alopecia Areata With Abrocitinib in Individuals With Down Syndrome Abrocitinib - Atopic Dermatitis, Alopecia Areata | Phase 2 | Recruiting | Icahn School of Medicine at Mount Sinai | 56 | 2026-01-12 | 2026-10-16 |
| A 2-Part Study to Assess Efficacy, Safety and Tolerability of BMB-101 for the Treatment of Patients With Prader-Willi Syndrome. BMB-101, Placebo - Prader-Willi Syndrome | Phase 2 | Not yet recruiting | Bright Minds Biosciences Pty Ltd | 16 | 2026-01-01 | 2025-12-05 |
| AEF0217 in Participants With Down Syndrome AEF0217 100 µg, AEF0217 300 µg, Placebo - Down Syndrome (Trisomy 21) | Phase 2 | Recruiting | Aelis Farma | 188 | 2025-12-22 | 2026-04-08 |
| Phase 2a Study of VX-407 in Participants With ADPKD Who Have a Subset of PKD1 Gene Variants (AGLOW) VX-407 - Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Phase 2 | Active not recruiting | Vertex Pharmaceuticals Incorporated | 26 | 2025-11-19 | 2026-09-21 |
| A Phase 1/2 Study of the Safety and Efficacy of MVX-220 in Angelman Syndrome MVX-220 - Angelman Syndrome | Phase 1 / Phase 2 | Recruiting | MavriX Bio, LLC | 12 | 2025-10-29 | 2026-07-24 |
Showing 20 of 253. Sign in to see all of them.
Polycystic Kidney, Autosomal Dominant (44) · Down Syndrome (39) · Prader-Willi Syndrome (31) · Basal Cell Nevus Syndrome (18) · von Hippel-Lindau Disease (18) · Polycystic Kidney Diseases (15) · Carcinoma, Basal Cell (13) · Usher Syndromes (12) · Netherton Syndrome (11) · Angelman Syndrome (10) · Retinitis Pigmentosa (10) · DiGeorge Syndrome (9) · Obesity (8) · Smith-Lemli-Opitz Syndrome (8) · POEMS Syndrome (7)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (253) · Congenital Abnormalities (252) · Genetic Diseases, Inborn (237) · Nervous System Diseases (141) · Neurologic Manifestations (99) · Chromosome Disorders (96) · Neurobehavioral Manifestations (79) · Intellectual Disability (76) · Ciliopathies (71) · Female Urogenital Diseases (64) · Female Urogenital Diseases and Pregnancy Complications (64) · Urogenital Diseases (64) · Male Urogenital Diseases (63) · Urologic Diseases (62)
Oxytocin (7) · Tolvaptan (7) · Dexamethasone (5) · Sirolimus (5) · Intravitreal Injections (4) · Sodium Chloride (4) · maralixibat (4) · Cholesterol (3) · Cyclophosphamide (3) · HhAntag691 (3) · Lenalidomide (3) · Metformin (3) · Methotrexate (3) · Sunitinib (3) · Valproic Acid (3)
University of Colorado, Denver (8) · Mirum Pharmaceuticals, Inc. (6) · University Hospital, Toulouse (6) · Laboratoires Thea (5) · National Cancer Institute (NCI) (5) · Novartis Pharmaceuticals (5) · Otsuka Pharmaceutical Development & Commercialization, Inc. (4) · Quoin Pharmaceuticals (4) · Rhythm Pharmaceuticals, Inc. (4) · UCSF Benioff Children's Hospital Oakland (4) · Ascend Biopharmaceuticals Ltd (3) · Hoffmann-La Roche (3) · M.D. Anderson Cancer Center (3) · Mario Negri Institute for Pharmacological Research (3) · Mayo Clinic (3)
United States (162) · France (39) · United Kingdom (31) · Italy (29) · Canada (24) · Spain (24) · Australia (18) · Germany (18) · Netherlands (17) · Belgium (13) · Japan (11) · China (9) · Israel (9) · Poland (7) · Denmark (6)
Ervin Epstein, MD (5) · Eric Hollander, MD (3) · Joaquin Espinosa, PhD (3) · M. Louise Markert, MD, PhD (3) · Ahmed Elkashef, MD (2) · David Meeker (2) · David Meeker, MD (2) · David R. Bickers, MD (2) · Ellen R Elias, MD (2) · Eric Jonasch, MD (2) · Forbes D Porter, M.D. (2)
PMID 39356039, PMID 41385299, PMID 18035553, PMID 18424759, PMID 18557726, PMID 19066739, PMID 20236866, PMID 42002216, PMID 17284531, PMID 21903984, PMID 34783716, PMID 37250503, PMID 38837240, PMID 41348481, PMID 12702512, PMID 14605787, PMID 14662594, PMID 18155964, PMID 20083693, PMID 20084109, PMID 20978268, PMID 21565561, PMID 21702900, PMID 22105611, PMID 22670904, PMID 22773240, PMID 23321647, PMID 23607606, PMID 23914737, PMID 24441673, PMID 24623282, PMID 24705452, PMID 24952730, PMID 25465809, PMID 26166166, PMID 26844873, PMID 26912555, PMID 26994593, PMID 27053961, PMID 27212247, PMID 27302362, PMID 27838224, PMID 28100688, PMID 28453471, PMID 28748333, PMID 28810844, PMID 28823614, PMID 28838955, PMID 29175429, PMID 29603764
2017 (3), K12HD043494 (3), R01AI047040 (3), R01AI054843 (3), 2015 (2), 2018 (2), 2023 (2), 2025 (2), R01CA109584 (2), R56AI047040 (2), U10CA180886 (2), 2014 (1), 2019 (1), R01DC016321 (1), R01DK131755 (1)