Clinical trials: Mutations
Orofaciodigital Syndromes
Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene
The aim of this multicentre study will be to better describe the clinical characteristics and the etiological bases of patients with OFD syndrome by identifying new genes involved in OFD syndrome.
- Trial name
- OFD1 (NCT01962129)
- Testing
- Sampling of blood
- Where
- France
- Volunteers
- 133 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Urticaria Pigmentosa, Cutaneous Mastocytosis
Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations
Pediatric mastocytosis is an orphan disease, which encompasses several clinically distinct entities including solitary mastocytoma, urticaria pigmentosa, diffuse cutaneous mastocytosis and the newly recognized mast cell…
- Trial name
- NCT02761473
- Testing
- skin biopsy, blood draw
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Anaplastic Astrocytoma, Glioblastoma
Veliparib, Radiation Therapy, and Temozolomide in Treating Patients With Newly Diagnosed Malignant Glioma Without H3 K27M or BRAFV600 Mutations
This phase II trial studies how well veliparib, radiation therapy, and temozolomide work in treating patients with newly diagnosed malignant glioma without H3 K27M or BRAFV600 mutations.
- Conditions
- Anaplastic Astrocytoma, Glioblastoma, Malignant Glioma
- Trial name
- NCT03581292
- Testing
- Radiation Therapy, Temozolomide, Veliparib
- Where
- 163 sites in United States, Australia and 3 more
- Volunteers
- 38 people
- Sponsor
- Children's Oncology Group
Marfan Syndrome, Turner Syndrome
National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) was initiated in 2006 by the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute of…
- Conditions
- Marfan Syndrome, Turner Syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome
- Trial name
- GenTAC (NCT01322165)
- Where
- 7 sites in United States
- Volunteers
- 3,706 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Prostatic Neoplasms
Prevalence of HRR-related Genes Mutations and Prognosis in Metastatic Castration Resistant Prostate Cancer (mCRPC) Patients in Real World Setting
The purpose of this study is to investigate the prevalence of tissue homologous recombination repair (HRR)-related gene mutations (positive/negative/Variant of uncertain significance (VUS)), clinical outcome such as…
- Trial name
- ZENSHIN (NCT04425200)
- Where
- 26 sites in Japan
- Volunteers
- 205 people
- Sponsor
- AstraZeneca
Cystic Fibrosis
Correction of Nonsense Mutations in Cystic Fibrosis
The presence of a nonsense mutation leads to the rapid degradation of the carrier mRNA mutation by a mechanism called NMD (nonsense-mediated mRNA decay) [6, 13].
- Trial name
- NCT03670472
- Testing
- smear of nasal fossae
- Where
- 8 sites in France
- Volunteers
- 85 people
- Sponsor
- University Hospital, Lille
De Novo Mutation, Preimplantation Genetic Testing
Optimized PGT-M Strategy for Patients With No Proband
The clinical practice of PGT-M for monogenetic disease usually adopted a double-checking strategy, which detect the mutation by Sanger sequencing and meantime construct haplotypes using the DNA sample of the proband so as to…
- Conditions
- De Novo Mutation, Preimplantation Genetic Testing, Without Proband
- Trial name
- NCT06722313
- Testing
- Gametes (sperm or second polar bodies, MI eggs) or arrested embryos were reserved for identification of a proband
- Where
- China
- Volunteers
- 5 people
- Sponsor
- ShangHai Ji Ai Genetics & IVF Institute
Chondrosarcomas, Cartilage Tumours
Diagnostic and Therapeutic Targets in Cartilaginous Tumours
This study, "Finding new diagnostic and therapeutic targets in cartilaginous tumours," focuses on improving the diagnosis, prognostic stratification, and treatment options for chondroid tumours, particularly chondrosarcoma.
- Trial name
- NCT07315542
- Testing
- Tumour tissue analysis, Molecular validation, Liquid biopsy analysis
- Where
- Czechia
- Volunteers
- 300 people
- Sponsor
- St. Anne's University Hospital Brno, Czech Republic
Uveal Melanoma, Cutaneous Melanoma
Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
This research will have a significant impact on the overall management of those cancer patients and their family members who are at risk for hereditary cancer due to germline inactivation of BAP1.
- Conditions
- Uveal Melanoma, Cutaneous Melanoma, BAP1 Gene Mutation, Renal Cell Carcinoma
- Trial name
- NCT04792463
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Mohamed Abdel-Rahman
Neonatal Diabetes Secondary to Mutation in the Potassium Channel
Glibentek in Patients With Neonatal Diabetes Secondary to Mutations in K+-ATP Channels
The understanding of the molecular mechanisms of neonatal diabetes has deeply changed the therapy of patients carrying mutations in the K-ATP channel.
- Trial name
- NEOGLI (NCT02375828)
- Testing
- Glibenclamide
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Desmoid Tumor, NOTCH Gene Mutation Positive Tumors
Individual Patient Compassionate Use of Nirogacestat
This program is being offered on a patient by patient basis and will require company, Institutional Review Board/Independent Ethics Committee, and applicable competent authority approval.
- Trial name
- NCT05041036
- Testing
- Nirogacestat (Gamma Secretase Inhibitor)
- Where
- 2 sites in United States, Germany
- Sponsor
- SpringWorks Therapeutics, Inc., a healthcare company of Merck KGaA, Darmstadt, Germany
Neurological Diseases
Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases
In Israel, because of special qualification in neurogenetics, during a 30 year career ,we have found, characterized and treated at least 13 novel neurological diseases.
- Trial name
- NGS (NCT02340871)
- Testing
- Genetic testing
- Where
- Israel
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Rabin Medical Center
Mutation
C677T Methylenetetrahydrofolate Reductase Mutation
To investigate the effect of anticoagulant treatment on pregnancy outcomes in patients with previous recurrent miscarriages (RM) who carry a methylenetetrahydrofolate reductase (MTHFR) gene mutation.
- Trial name
- C677T (NCT05864937)
- Testing
- infertily evaluation
- Where
- France
- Volunteers
- 363 people
- Sponsor
- Centre Hospitalier Universitaire, Amiens
EGFR Mutation-positive Inoperable or Reccrent NSCLC
Special Investigation for VIZIMPRO Tablets (Secondary Data Collection Study; Safety and Efficacy of VIZIMPRO Under Japanese Medical Practice)
Secondary data collection study: safety and efficacy of VIZIMPRO under Japanese medical practice
- Trial name
- NCT04155541
- Testing
- dacomitinib hydrate
- Where
- Japan
- Volunteers
- 40 people
- Sponsor
- Pfizer
Leber Hereditary Optic Neuropathy (LHON)
A Phase 3, Multicenter, Randomized, Double-Masked, Sham-Controlled Clinical Trial for Leber's Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation
The objective of this clinical study is to evaluate the safety and efficacy of NR082 in the treatment of LHON caused by mitochondrial ND4 gene mutation.
- Trial name
- NCT07406854
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 95 people
- Sponsor
- Wuhan Neurophth Biotechnology Limited Company
Low-grade Glioma
Expanded Access Program (EAP) for Tovorafenib (DAY101) in RAF-Altered, Relapsed or Refractory Low-Grade Glioma
The DAY101-EAP is a multicenter, open-label, expanded access treatment protocol designed to provide access to tovorafenib (DAY101) for eligible patients.
- Trial name
- NCT05760586
- Testing
- Tovorafenib
- Sponsor
- Day One Biopharmaceuticals, Inc.
Pleuropulmonary Blastoma, Cystic Nephroma
DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study
Background: Pleuropulmonary blastoma (PPB) is a rare fast-growing lung tumor that is associated with other, rare tumor types. Most cases of PPB appear in children younger than 6 years of age.
- Conditions
- Pleuropulmonary Blastoma, Cystic Nephroma, Ovarian Sertoli-Leydig Cell Tumors, Ocular Medulloepithelioma
- Trial name
- NCT01247597
- Where
- 2 sites in United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Mastocytosis, Anaphylaxis
Blood Factors in Mastocytosis and Unexplained Anaphylaxis and Flushing
This study will 1) identify characteristics of bone marrow mast cells in patients with unexplained anaphylaxis and flushing or with mastocytosis and 2) determine whether mastocytosis might be the underlying cause of unexplained…
- Trial name
- NCT00047918
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Muscular Dystrophies, Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy)
A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping
A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1044 for the treatment of Duchenne Muscular Dystrophy (DMD) with Gene Mutations Amenable to Exon 44 Skipping
- Conditions
- Muscular Dystrophies, Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy), Muscular Disorders, Atrophic, Muscular Disease
- Trial name
- SAFARI44 (NCT07587242)
- Testing
- AOC 1044
- Where
- 18 sites in Australia, Belgium and 6 more
- Volunteers
- 70 people
- Sponsor
- Avidity Biosciences, Inc.
Cystic Fibrosis
Study of Ataluren (PTC124™) in Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder caused by a mutation in the gene that makes the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
- Trial name
- NCT00803205
- Testing
- Ataluren
- Where
- 38 sites in United States, Belgium and 9 more
- Volunteers
- 238 people
- Sponsor
- PTC Therapeutics