7 completed, 5 recruiting, 2 terminated, 1 enrolling by invitation. 2 Not applicable, 1 Phase 4.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 2 | Completed 1, Enrolling by invitation 1 |
| Phase 4 | 1 | Terminated 1 |
Follow Coloboma: new trials by email Literature Review of Coloboma trials Research Report on Coloboma
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 |
|---|---|---|---|---|---|---|
| Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset Methylation analysis - Rare Fetal Genetic Diseases, Congenital Malformation | Recruiting | Assistance Publique - Hôpitaux de Paris | 63 | 2026-02-26 | 2026-03-27 | |
| A Strategic Approach to Safe and Effective Cochlear Implantation in Patients With CHARGE Syndrome No intervention (observational study) - CHARGE Syndrome | Completed | Seoul National University Bundang Hospital | 12 | 2025-11-21 | 2026-01-06 | |
| Palliative Care Needs of Children With Rare Diseases and Their Families Family Centered pediatric palliative care for family caregivers of children with rare diseases. - Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia | Not applicable | Enrolling by invitation | Children's National Research Institute | 480 | 2025-10-02 | 2026-01-28 |
| Modeling Ocular Developmental Diseases From 3D Cultures of Optic Vesicle Organoids Derived From hiPSCs of Patients With Ocular Malformations Blood sampling - Eye Abnormalities | Recruiting | University Hospital, Toulouse | 20 | 2024-11-05 | 2026-03-18 | |
| Potential Environmental Causes of Uveal Coloboma Coloboma | Completed | National Eye Institute (NEI) | 87 | 2023-06-20 | 2026-09-17 | |
| Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children Microphthalmia, Coloboma | Recruiting | Baylor College of Medicine | 3000 | 2022-09-25 | 2026-05-06 | |
| A Post Market Clinical Follow-up Study on Biomet Microfixation HTR PEKK (Midface), Facial & Mandibular Plates. Titanium Facial Plates, Titanium Mandibular Plates, Add-on Condyle - Tumor, Facial Fracture | Completed | Zimmer Biomet | 91 | 2021-10-01 | 2024-01-29 | |
| Neurovisual Function in CHARGE Syndrome visual function evaluation - CHARGE Syndrome | Unknown | Fondazione Policlinico Universitario Agostino Gemelli IRCCS | 20 | 2021-03-15 | 2023-03-13 | |
| 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 | |
| A Study of Crisaborole Ointment 2%; Crisaborole Vehicle; TCS and TCI in Subjects Aged ≥ 2 Years, With Mild-moderate AD Crisaborole ointment, 2%, Hydrocortisone butyrate cream, 0.1%, Pimecrolimus cream, 1% - Atopic Dermatitis | Phase 4 | Terminated | Pfizer | 237 | 2018-04-27 | 2022-01-10 |
| Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Craniofacial Microsomia, Hemifacial Microsomia | Completed | Seattle Children's Hospital | 417 | 2013-11-01 | 2024-04-19 | |
| Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC) Coloboma, Anophthalmia | Recruiting | National Eye Institute (NEI) | 600 | 2013-01-08 | 2026-10-26 | |
| Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children laryngoscopy with oxygen, laryngoscopy without oxygen - Infants, Difficult Airway | Not applicable | Completed | Medical University of Vienna | 48 | 2012-01-01 | 2023-08-31 |
| Family Studies of Uveal Coloboma Coloboma | Terminated | National Eye Institute (NEI) | 100 | 2006-07-28 | 2019-12-17 | |
| Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Craniofacial Differences | Completed | National Human Genome Research Institute (NHGRI) | 44 | 2005-06-13 | 2019-12-12 | |
| Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases Eye Diseases | Completed | National Eye Institute (NEI) | 350 | 2004-01-14 | 2017-07-02 |
CHARGE Syndrome (5) · Mandibulofacial Dysostosis (4) · Microphthalmos (4) · Anophthalmos (3) · Goldenhar Syndrome (3) · Acrocephalosyndactylia (2) · Congenital Abnormalities (2) · Noonan Syndrome (2) · 22q11 Deletion Syndrome (1) · Acrofacial dysostosis, Nager type (1) · Adrenal Hyperplasia, Congenital (1) · Allan-Herndon-Dudley syndrome (1) · Aniridia (1) · Anxiety Disorders (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (16) · Eye Diseases, Hereditary (16) · Eye Diseases (15) · Congenital Abnormalities (14) · Nervous System Diseases (9) · Genetic Diseases, Inborn (8) · Abnormalities, Multiple (7) · Bone Diseases (7) · Bone Diseases, Developmental (7) · Craniofacial Abnormalities (7) · Musculoskeletal Abnormalities (7) · Musculoskeletal Diseases (7) · Dysostoses (6) · Ear Diseases (6)
Blood Specimen Collection (1) · Laryngoscopy (1) · Observation (1) · Oxygen (1) · crisaborole (1) · pimecrolimus (1)
National Eye Institute (NEI) (4) · Assistance Publique - Hôpitaux de Paris (1) · Baylor College of Medicine (1) · Children's National Research Institute (1) · Fondazione Policlinico Universitario Agostino Gemelli IRCCS (1) · Medical University of Vienna (1) · National Human Genome Research Institute (NHGRI) (1) · Pfizer (1) · Seattle Children's Hospital (1) · Seoul National University Bundang Hospital (1) · University Hospital, Toulouse (1) · Zimmer Biomet (1) · dr. Laura C. G. de Graaff-Herder (1)
United States (9) · France (2) · Italy (2) · Argentina (1) · Austria (1) · Germany (1) · Netherlands (1) · Poland (1) · South Korea (1) · Sweden (1) · Switzerland (1) · United Kingdom (1)
Brian P Brooks, M.D. (3) · Barbara B Biesecker (1) · Carrie L Heike, MD, MS (1) · Giuseppe Zampino, medicine (1) · Julie Plaisancie, MD, PhD (1) · Mark Sun, PhD (1) · Matthew L Speltz, PhD (1) · Maureen E Lyon, PhD (1) · Olga Plattner, M.D. (1)
2018 (1), R01DE022438 (1), R01HD117137 (1), U01EY032403 (1)