17 unknown. 17 Phase 2, 3 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 17 | Unknown 17 |
| Phase 3 | 3 | Unknown 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 |
|---|---|---|---|---|---|---|
| Tirzepatide Monotherapy in Patients With Wolfram Syndrome Type 1 Tirzepatide - Wolfram Syndrome | Phase 2 | Unknown | Ospedale San Raffaele | 10 | 2024-01-01 | 2024-02-22 |
| Treat Autosomal Dominant Polycystic Kidney Disease With Oral Ketone Ester? Ketone ester - ADPKD | Phase 2 | Unknown | Universitair Ziekenhuis Brussel | 20 | 2023-11-01 | 2023-10-25 |
| 68Ga-NY104 PET/CT in Von Hippel-Lindau Disease 68Ga-NY104 PET/CT Contrast-enhanced MRI of the brain and contrast-enhanced CT of abdomen and pelvis) 68Ga-NODAGA-LM3 PET/CT (exploratory) - Von Hippel-Lindau Disease | Phase 2 | Unknown | Peking Union Medical College Hospital | 19 | 2023-05-01 | 2023-05-11 |
| Efficacy of Bumetanide to Improve Cognitive Functions in Down Syndrome Bumetanide, Placebo - Down Syndrome | Phase 2 | Unknown | Stefano Vicari | 64 | 2023-01-11 | 2024-06-20 |
| Efficacy Study of Daily Administration of VPA in Patients Affected by Wolfram Syndrome Depakine - Wolfram Syndrome | Phase 2 | Unknown | Centre d'Etude des Cellules Souches | 23 | 2021-11-26 | 2023-11-28 |
| A 5 Treatment Period Pharmacokinetic Study Evaluating Dose Proportionality and Food Effects of Diazoxide Choline Controlled-Release Tablet (DCCR) Diazoxide choline controlled-release tablet - Prader-Willi Syndrome | Phase 2 | Unknown | Essentialis, Inc. | 32 | 2017-07-01 | 2016-09-09 |
| Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome. omega-3 PUFAs, Standard care, placebo - 22q11 Deletion Syndrome | Phase 2 / Phase 3 | Unknown | Bambino Gesù Hospital and Research Institute | 80 | 2014-06-01 | 2014-02-25 |
| The Oxford Marfan Trial Irbesartan 150-300mg capsules daily for 6 months, Doxycycline 100-200mg capsules daily for 6 months, Doxycycline placebo capsules daily for 6 months - Marfan Syndrome | Phase 2 | Unknown | University of Oxford | 56 | 2013-10-01 | 2015-06-09 |
| Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control renal sympathetic denervation, antihypertensive drugs - Autosomal Dominant Polycystic Kidney Disease, Hypertension | Phase 2 | Unknown | Mei changlin | 100 | 2013-08-01 | 2014-09-25 |
| Fluor Varnish With Silver Nanoparticles for Dental Remineralization in Patients With Trisomy 21 Fluor varnish, Fluor varnish with nanoparticles - Down Syndrome | Phase 2 | Unknown | Universidad Autonoma de San Luis Potosí | 20 | 2012-09-01 | 2014-03-07 |
| Sirolimus for Massive Polycystic Liver Sirolimus - Polycystic Kidney Diseases | Phase 2 / Phase 3 | Unknown | Seoul National University Hospital | 44 | 2011-09-01 | 2012-09-07 |
| Efficacy and Safety Study of Second-Line Treatment for Hypertension With Autosomal Dominant Polycystic Kidney Disease(ADPKD) Cilnidipine, Imidapril - Kidney, Polycystic, Autosomal Dominant | Phase 2 | Unknown | Ministry of Health, Labour and Welfare, Japan | 160 | 2009-07-01 | 2009-12-02 |
| The Treatment of Lenalidomide in Patients With POEMS Syndrome Lenalidomide and dexamethasone - POEMS Syndrome | Phase 2 | Unknown | Istituto Clinico Humanitas | 16 | 2009-07-01 | 2010-09-02 |
| Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Antioxidants, Cholesterol - Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy | Phase 2 | Unknown | University of Colorado, Denver | 100 | 2008-12-01 | 2024-05-08 |
| Open-Label Extension of LOCKCYST Trial lanreotide - Polycystic Liver Disease, Hepatomegaly | Phase 2 / Phase 3 | Unknown | Radboud University Medical Center | 54 | 2008-04-01 | 2008-11-13 |
| A Randomized, Open-label, LOSARTAN Therapy on the Progression of Aortic Root Dilation in Patients With Marfan Syndrome Losartan and Atenolol or Propranolol, Atenolol or Propranolol - Marfan Syndrome | Phase 2 | Unknown | National Taiwan University Hospital | 44 | 2007-02-01 | 2010-06-09 |
| Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome diet - Smith-Lemli-Opitz Syndrome | Phase 2 | Unknown | National Center for Research Resources (NCRR) | 5 | 1995-11-01 | 2005-06-24 |
Polycystic Kidney, Autosomal Dominant (3) · Down Syndrome (2) · Hypertension (2) · Marfan Syndrome (2) · Polycystic Kidney Diseases (2) · Smith-Lemli-Opitz Syndrome (2) · Wolfram Syndrome (2) · 22q11 Deletion Syndrome (1) · Cone-Rod Dystrophies (1) · Diabetes Mellitus (1) · Genetic Diseases, Inborn (1) · Hearing Loss (1) · Hepatomegaly (1) · Liver Diseases (1) · Multiple Pterygium Syndrome, Autosomal Dominant (1)
Congenital Abnormalities (17) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (17) · Genetic Diseases, Inborn (15) · Nervous System Diseases (8) · Female Urogenital Diseases (7) · Female Urogenital Diseases and Pregnancy Complications (7) · Kidney Diseases (7) · Male Urogenital Diseases (7) · Urogenital Diseases (7) · Urologic Diseases (7) · Cardiovascular Diseases (6) · Ciliopathies (6) · Neurologic Manifestations (6) · Kidney Diseases, Cystic (5)
Antihypertensive Agents (1) · Antioxidants (1) · Atenolol (1) · Bumetanide (1) · Cholesterol (1) · Dexamethasone (1) · Diet (1) · Doxycycline (1) · Eggs (1) · Fish Oils (1) · Irbesartan (1) · Lenalidomide (1) · Losartan (1) · Nanoparticles (1) · Propranolol (1)
Bambino Gesù Hospital and Research Institute (1) · Centre d'Etude des Cellules Souches (1) · Essentialis, Inc. (1) · Istituto Clinico Humanitas (1) · Mei changlin (1) · Ministry of Health, Labour and Welfare, Japan (1) · National Center for Research Resources (NCRR) (1) · National Taiwan University Hospital (1) · Ospedale San Raffaele (1) · Peking Union Medical College Hospital (1) · Radboud University Medical Center (1) · Seoul National University Hospital (1) · Stefano Vicari (1) · Universidad Autonoma de San Luis Potosí (1) · Universitair Ziekenhuis Brussel (1)
Italy (3) · China (2) · United States (2) · Belgium (1) · France (1) · Holy See (1) · Japan (1) · Mexico (1) · Netherlands (1) · South Korea (1) · Spain (1) · Taiwan (1) · United Kingdom (1)
Armando Santoro, MD (1) · Changlin Mei, MD (1) · Curie Ahn, MD, PhD (1) · Ellen R Elias, MD (1) · Frederik Nevens, MD, PhD (1) · J Colin Forfar, BSc (hons), MA(Oxon), MD, PhD, (1) · Joost PH Drenth, PhD (1) · Li Huo, MD (1) · Loes van Keimpema, MSc (1) · Lorenzo Piemonti, MD (1) · Marco Armando, MD, PhD (1) · Mei-Hwan Wu (1) · Shigeo Horie, MD (1) · Stefano Vicari (1)