9 completed, 1 enrolling by invitation, 1 not yet recruiting, 1 recruiting. 5 Phase 2, 2 Not applicable, 2 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 5 | Completed 5 |
| Not applicable | 2 | Completed 1, Not yet recruiting 1 |
| Phase 3 | 2 | Completed 2 |
Follow Genetic Disorders: new trials by email Literature Review of Genetic Disorders trials Research Report on Genetic Disorders
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 |
|---|---|---|---|---|---|---|
| The Genetics Update Genetics Update Platform plus standard genetic counselling, Standard Genetic Counselling - Genetic Diseases, Genetic Disorders | Not applicable | Not yet recruiting | Unity Health Toronto | 170 | 2027-01-01 | 2026-08-31 |
| Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD) | Recruiting | Healing Hope International | 100 | 2026-03-01 | 2026-03-25 | |
| RNA to the RESCUE: Evaluation to Assess the Clinical Utility of RNA Sequencing in Establishing a Genetic Diagnosis or Adjudicating a Previously Established Genetic Diagnosis. RNA sequencing - Genetic Conditions, Genetic Disorders | Enrolling by invitation | University of California, San Francisco | 100 | 2025-08-06 | 2026-10-02 | |
| Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops Whole Exome Sequencing, Whole Genome Sequencing - Nonimmune Fetal Hydrops, Nonimmune Hydrops in Neonate | Completed | Thomas Jefferson University | 55 | 2019-01-15 | 2026-07-14 | |
| Clinical Implementation of Carrier Status Using Next Generation Sequencing Whole Genome Sequencing, Carrier status testing - Genetic Disorders | Not applicable | Completed | Kaiser Permanente | 384 | 2014-01-01 | 2019-04-17 |
| Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A PXT3003 Low dose, PXT3003 Intermediate Dose, PXT3003 High Dose - Charcot-Marie-Tooth Disease, Hereditary Neuropathy With Liability to Pressure Palsies | Phase 2 | Completed | Pharnext S.C.A. | 80 | 2010-12-01 | 2017-11-22 |
| A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration Recombinant Human C1 Inhibitor - Genetic Disorders, Hereditary Angioedema | Phase 2 | Completed | Pharming Technologies B.V. | 25 | 2009-06-01 | 2018-06-26 |
| Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders. Genetic Disorders | Completed | Carmel Medical Center | 1000 | 2007-11-01 | 2017-08-09 | |
| Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema recombinant human C1 inhibitor, Placebo - Hereditary Angioedema, Angioneurotic Edema | Phase 3 | Completed | Pharming Technologies B.V. | 75 | 2004-06-01 | 2012-10-02 |
| Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema i.v. recombinant human C1 inhibitor - Genetic Disorders | Phase 2 / Phase 3 | Completed | Pharming Technologies B.V. | 14 | 2004-04-01 | 2013-02-22 |
| Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema i.v. recombinant human C1 inhibitor - Genetic Disorders | Phase 2 | Completed | Pharming Technologies B.V. | 14 | 2003-06-01 | 2013-04-25 |
| Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis Busulfan, Cyclophosphamide, BMD - Genetic Disorders, Sickle Cell Anemia | Phase 2 | Completed | Memorial Sloan Kettering Cancer Center | 25 | 1994-01-01 | 2008-09-12 |
| Reproducibility of the Array-Based Comparative Genomic Hybridization (aCGH) System Using Whole Blood Samples Genetic Disorders | Unknown | Abbott Molecular | 4 | 2006-07-14 |
Genetic Diseases, Inborn (13) · Angioedemas, Hereditary (2) · Anemia, Diamond-Blackfan (1) · Anemia, Sickle Cell (1) · Angioedema (1) · Autism Spectrum Disorder (1) · Brain Injuries, Traumatic (1) · Cerebral Palsy (1) · Charcot-Marie-Tooth Disease (1) · Chromosome Aberrations (1) · Developmental Disabilities (1) · DiGeorge Syndrome (1) · Down Syndrome (1) · Edema (1) · Emotional Regulation (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (13) · Cardiovascular Diseases (3) · Vascular Diseases (3) · Congenital Abnormalities (2) · Hemic and Lymphatic Diseases (2) · Hereditary Complement Deficiency Diseases (2) · Heredodegenerative Disorders, Nervous System (2) · Hypersensitivity (2) · Hypersensitivity, Immediate (2) · Immune System Diseases (2) · Immunologic Deficiency Syndromes (2) · Nervous System Diseases (2) · Pathological Conditions, Signs and Symptoms (2) · Primary Immunodeficiency Diseases (2) · Signs and Symptoms (2)
Complement C1 Inhibitor Protein (2) · conestat alfa (2) · Busulfan (1) · Cyclophosphamide (1) · Exome (1) · Sequence Analysis, RNA (1) · Sodium Chloride (1) · Whole Genome Sequencing (1)
Pharming Technologies B.V. (4) · Abbott Molecular (1) · Carmel Medical Center (1) · Healing Hope International (1) · Kaiser Permanente (1) · Memorial Sloan Kettering Cancer Center (1) · Pharnext S.C.A. (1) · Thomas Jefferson University (1) · Unity Health Toronto (1) · University of California, San Francisco (1)
United States (5) · Netherlands (4) · Romania (2) · Canada (1) · France (1) · Israel (1)
Jan Nuijens, MD, PhD (3) · Benjamin Wilfond, MD (1) · Bruno Giannetti, MD (1) · Dan Waisman, MD (1) · Dr. Tina Casoglos-Adamopoulos, OT, OTD, BCP (1) · Farid Boulad, MD (1) · Huda B Al-Kouatly, MD (1) · Kanika Bhardwaj (1) · Katrina Goddard, PhD (1) · Reva Frankel (1) · Yvonne Bombard, PhD (1)
PMID 20920772, PMID 22909164, PMID 25519680, PMID 28284978, PMID 36029725, PMID 39228063, PMID 42159953, PMID 42624826
1UM1HG007292-01 (1)