Clinical trials: Mutations
Hemophilia B
Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype
It appears that the mutation p.Ile112Thr in the factor IX gene confers a discrepancy between mild factor IX level and severe bleeding phenotype. Databases and litterature analysis are poor on this matter.
- Trial name
- Hémophilie B (NCT03946384)
- Testing
- data collection
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
PIK3CA-related Overgrowth Spectrum (PROS)
Study Assessing Long-term Safety and Efficacy of Alpelisib in Patients With PIK3CA-Related Overgrowth Spectrum (PROS) Who Previously Participated in Study CBYL719F12002 (EPIK-P1)
This Phase II, multicenter, open-label study, preceded by a retrospective non-interventional period, is assessing the long-term safety and efficacy of alpelisib in pediatric and adult participants with PIK3CA-related overgrowth…
- Trial name
- EPIK-P3 (NCT04980833)
- Testing
- Alpelisib
- Where
- 6 sites in United States, France and 2 more
- Volunteers
- 41 people
- Sponsor
- Novartis Pharmaceuticals
Inflammatory Bowel Disease
Telomere Repair Gene Mutation in Inflammatory Bowel Disease
This study will evaluate and compare the genes of the telomere repair complex in healthy control subjects, patients with blood diseases, and patients with inflammatory bowel disease to identify what, if any, changes are…
- Trial name
- NCT00353639
- Where
- United States
- Volunteers
- 95 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Single Gene Disorders
Clinical Use of Parental Support To Detect Single Gene Mutations
Gene Security Network has developed a novel technology called Parental Support (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF).
- Trial name
- NCT01197872
- Testing
- Preimplantation Genetic Diagnosis
- Where
- United States
- Volunteers
- 240 people
- Sponsor
- Natera, Inc.
EGFR Mutation Positive Advanced Non-small-cell Lung Cancer
Gefitinib Long-term Survivor Study
The primary objective is to describe the genomic profile of long-term survivors, especially to find out potential genomic prognosis and/or predictive factors for gefitinib long-term efficacy as compared to rapid PD patients
- Trial name
- NCT02932345
- Where
- 14 sites in China
- Volunteers
- 59 people
- Sponsor
- AstraZeneca
Phenylketonuria
Study of BH4, a New and Simple Treatment of Mild PKU
The main purpose is to test whether treatment with BH4-tablets can replace the protein restrictive diet in patients with mild PKU caused by a certain frequent mutation.
- Trial name
- NCT00260000
- Testing
- 5,6,7,8-tetrahydrobiopterin
- Where
- Denmark
- Volunteers
- 15 people
- Sponsor
- The Kennedy Institute-National Eye Clinic
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
Retinoblastoma, Secondary Primary Malignancies After Retinoblastoma
New Strategies to Detect Cancers in Carriers of Mutations in RB1
Rationale: Individuals with a cancer predisposition due to a mutation in the paradigm tumor suppressor gene RB1, have a high risk to develop the childhood cancer retinoblastoma (Rb).
- Trial name
- NIRBTEST (NCT04164134)
- Testing
- blood draw
- Where
- 3 sites in France, Germany and 1 more
- Volunteers
- 378 people, healthy volunteers welcome
- Sponsor
- Amsterdam UMC, location VUmc
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD
The aim of this study is to identify families with ADPKD , characterize the phenotype and screen for mutations in known genes (PKD1 and PKD2, and then HNF1b and UMOD in PKD1 PKD2 negative carriers).
- Trial name
- GeneQuest (NCT02112136)
- Testing
- Blood Collection
- Where
- 25 sites in France
- Volunteers
- 1,450 people
- Sponsor
- University Hospital, Brest
Cystic Fibrosis
A Study to Evaluate the Effect of VX-661 in Combination With Ivacaftor on Chest Imaging Endpoints in Subjects With Cystic Fibrosis, Homozygous for the F508del CFTR Mutation
The primary purpose of study is to evaluate the treatment effect of tezacaftor in combination with ivacaftor (TEZ/IVA) on chest imaging endpoints using low-dose computed tomography (LDCT) at Week 72, and to evaluate the safety of…
- Trial name
- NCT02730208
- Testing
- Tezacaftor/Ivacaftor, Ivacaftor
- Where
- 9 sites in Australia
- Volunteers
- 41 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Ataxia Telangiectasia
Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)
This project aims to evaluate the safety and efficacy of precision genetic therapy for patients with Ataxia-telangiectasia (A-T), a rare neurodegenerative disease caused by mutations in the ATM gene.
- Trial name
- NCT07215416
- Testing
- Antisense oligonucleotide targeting the ATM gene
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Timothy Yu
MELAS Syndrome, Noninsulin-dependent Diabetes Mellitus With Deafness
Mitochondrial nt3243 A>G Mutation in Taiwan
Mitochondrial diseases are multisystem disorders that present with a wide range of clinical manifestations. Mitochondrial DNA nt3243A>G mutation is one of the most common mutations seen in mitochondrial diseases.
- Trial name
- NCT02114554
- Where
- Taiwan
- Volunteers
- 40 people
- Sponsor
- National Taiwan University Hospital
Systemic Lupus Erythematosus (SLE)
GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus
Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease for which the aetiology includes genet-ic and environmental factors. It is rare in children as compared to adults.
- Trial name
- GENIAL (NCT01992666)
- Testing
- Blood sampling
- Where
- 26 sites in France
- Volunteers
- 271 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Metastatic and/or High Risk Solid Tumor of Children
Use of Specific Genetic Alteration s of Tumoral Cells Identified by the Next Generation Sequencing Techniques (NGS) to Follow Peripheral Samples of Children With Metastatic and/or High Risk Solid Tumor - NGSKids
The search for genetic alterations in primary tumor by NGS techniques followed by the detection of these alterations in circulating tumor DNA and/or CTC/DTC present in peripheral samples (blood, cerebrospinal fluid, bone marrow…
- Trial name
- NGSKids (NCT02546453)
- Testing
- Tumoral specific genetic alterations
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Institut Curie
Mesothelioma, Families
Long Term Follow-Up of Patients With Mesothelioma and Individuals With Germline Mutations in BAP1
Background: -A gene provides instructions to the body. Mutated genes can sometimes cause cancer. Germline mutations are those people are born with. These mutations in the BAP1 gene can cause mesothelioma and other cancers.
- Trial name
- NCT03830229
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- National Cancer Institute (NCI)
Prion Diseases
Therapeutic Antibodies Against Prion Diseases From PRNP Mutation Carriers
The human Prion diseases can be classified into sporadic, acquired and inherited forms. Inherited forms usually manifest in higher age so there have to be factors preventing Prion propagation in young mutation carriers.
- Trial name
- PRNP (NCT02837705)
- Testing
- blood draw
- Where
- 7 sites in United States, Austria and 5 more
- Volunteers
- 213 people, healthy volunteers welcome
- Sponsor
- University of Zurich
Kidney Cancer, Renal Failure
Biomarkers in Blood and Tumor Tissue Samples From Patients With Wilms Tumor
RATIONALE: Studying samples of blood and tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01314391
- Testing
- mutation analysis, polymerase chain reaction, laboratory biomarker analysis
- Volunteers
- 20 people
- Sponsor
- Children's Oncology Group
Cystic Fibrosis
Study of Ataluren (PTC124) in Cystic Fibrosis
The primary objective of this study is to determine the long-term safety and tolerability of ataluren in participants with nonsense mutation cystic fibrosis (nmCF) who completed participation in the double-blind study…
- Trial name
- NCT02107859
- Testing
- Ataluren
- Where
- 17 sites in United States, Belgium and 5 more
- Volunteers
- 61 people
- Sponsor
- PTC Therapeutics
X-Linked Retinitis Pigmentosa
Gene Therapy for Subjects With RPGR Mutation-associated X-linked Retinitis Pigmentosa
A clinical trial of gene therapy for patients with X-linked retinitis pigmentosa (XLRP).
- Trial name
- NCT05874310
- Testing
- FT-002
- Where
- 2 sites in China
- Volunteers
- 18 people
- Sponsor
- Frontera Therapeutics
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.