5 recruiting, 1 not yet recruiting, 1 terminated, 1 unknown. 2 Not applicable, 2 Phase 2, 1 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 2 | Recruiting 2 |
| Phase 2 | 2 | Not yet recruiting 1, Recruiting 1 |
| Phase 3 | 1 | Recruiting 1 |
Follow De Lange Syndrome: new trials by email Literature Review of De Lange Syndrome trials Research Report on De Lange Syndrome
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 |
|---|---|---|---|---|---|---|
| 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 |
| Physical Activity and Community EmPOWERment Project PACE Program - Intellectual Disability, Neurodevelopmental Disorders | Not applicable | Recruiting | University of North Carolina, Chapel Hill | 376 | 2025-01-10 | 2026-02-23 |
| HCAPPED I: HCAP-Pcr in Emergency Department Pneumonia, Bronchoalveolar Lavage | Unknown | Azienda Ospedaliero-Universitaria Careggi | 93 | 2024-06-07 | 2024-07-17 | |
| Cornelia De Lange Syndrome: Assessing Positive Effects of Lithium Treatment Lithium Carbonate Capsule - Cornelia De Lange Syndrome | Phase 2 / Phase 3 | Recruiting | University of Milan | 34 | 2024-05-01 | 2025-01-28 |
| Behavioral Assessment and Treatment of Problem Behavior in Children With Cornelia de Lange Syndrome ABA-based functional analysis and treatment - Cornelia de Lange Syndrome | Not applicable | Recruiting | Hugo W. Moser Research Institute at Kennedy Krieger, Inc. | 20 | 2023-08-02 | 2025-10-29 |
| GROWing Up With Rare GENEtic Syndromes Retrospective file studies - Prader-Willi Syndrome, PWS-like Syndrome | Recruiting | dr. Laura C. G. de Graaff-Herder | 600 | 2018-10-01 | 2023-09-06 | |
| Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS) Autonomic Dysfunction Testing - Cornelia de Lange Syndrome | Terminated | Mayo Clinic | 1 | 2016-08-01 | 2018-12-06 | |
| Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Rare Disorders, Undiagnosed Disorders | Recruiting | Sanford Health | 20000 | 2010-07-01 | 2026-10-28 |
Williams Syndrome (3) · Prader-Willi Syndrome (2) · WAGR Syndrome (2) · 22q11 Deletion Syndrome (1) · 3-Methylglutaconic Aciduria, Type V (1) · Achalasia Addisonianism Alacrimia syndrome (1) · Acrocephalosyndactylia (1) · Acrodysostosis (1) · Activated PI3K-delta Syndrome (1) · Addison Disease (1) · Adrenal Hyperplasia, Congenital (1) · Alagille Syndrome (1) · Allan-Herndon-Dudley syndrome (1) · Alstrom Syndrome (1)
Abnormalities, Multiple (8) · Chromosome Disorders (8) · Congenital Abnormalities (8) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (8) · Nervous System Diseases (8) · Neurobehavioral Manifestations (8) · Neurologic Manifestations (8) · Genetic Diseases, Inborn (7) · Intellectual Disability (7) · Aortic Stenosis, Supravalvular (3) · Aortic Valve Disease (3) · Aortic Valve Stenosis (3) · Behavior (3) · Bone Diseases (3) · Bone Diseases, Developmental (3)
Acetylcysteine (1) · Lithium Carbonate (1) · Therapeutics (1)
Azienda Ospedaliero-Universitaria Careggi (1) · Hugo W. Moser Research Institute at Kennedy Krieger, Inc. (1) · Johns Hopkins University (1) · Mayo Clinic (1) · Sanford Health (1) · University of Milan (1) · University of North Carolina, Chapel Hill (1) · dr. Laura C. G. de Graaff-Herder (1)
United States (5) · Italy (2) · Netherlands (1)
Aglaia Vignoli, Professor, MD (1) · Amie E Jones, MD (1) · Brianne R Tomaszewski, PhD., MPH (1) · Marco A Grados, M.D., M.P.H. (1) · Patricia F Kurtz, PhD (1) · Pelagatti Lorenzo, Dr (1)
R01AG076678 (1)