Clinical trials: Mutation
Optical Coherence Tomography (OCT) of the Retina, Mutation
Looking for VUS to Confirm Dominant Wolfram-like Syndrome Instead of Recessive Wolfram Syndrome
Looking for the pthogenicity of mutations of WFS1 gene for patients with mutation of the two alleles but a dominant phenotype
- Trial name
- VUS in Wolfram (NCT07485413)
- Where
- France
- Volunteers
- 45 people
- Sponsor
- Hôpital Necker-Enfants Malades
Thoracic Neoplasms
Phase III Trial to Evaluate the Elortinib vs Gefitinib in Advanced NSCLC With EGFR Exon 19 or 21 Mutations
This is a randomized controlled trial to compare efficacy and safety between erlotinib and gefitinib in advanced NSCLC harboring EGFR exon 19 or 21 mutations.Eligible patients were randomized to receive erlotinib or gefitinib in…
- Trial name
- NCT01024413
- Testing
- erlotinib, gefitinib
- Where
- China
- Volunteers
- 256 people
- Sponsor
- Chinese Society of Lung Cancer
Retinitis Pigmentosa
Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
The rod-cone dystrophies (often referred to as retinitis pigmentosa (RP)) are a clinically and genetically heterogeneous group of disorders in which there is progressive loss of rod and later cone photoreceptor function leading…
- Trial name
- NCT03349242
- Where
- 8 sites in United States, Canada and 1 more
- Volunteers
- 140 people
- Sponsor
- MeiraGTx UK II Ltd
Congenital Muscular Dystrophy Due to Lamin A/C Mutation
HBCMD01- Expanded Access for the Treatment of Congenital Muscular Dystrophy.
This individual patient expanded access IND is requested for a patient diagnosed with LMNA-related congenital muscular dystrophy (L-CMD).
- Trial name
- NCT05154851
- Testing
- HB-adMSCs
- Where
- United States
- Sponsor
- Hope Biosciences Research Foundation
Fabry Disease
Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease
Study to compare the efficacy and safety of migalastat and enzyme replacement therapy (ERT) in male and female participants with Fabry disease who are currently receiving ERT and who have an alpha galactosidase-A (α Gal-A)…
- Trial name
- NCT01218659
- Testing
- migalastat hydrochloride, agalsidase
- Where
- 25 sites in United States, Australia and 8 more
- Volunteers
- 68 people
- Sponsor
- Amicus Therapeutics
MELAS Syndrome, Mitochondrial Diseases
Ketones & Mitochondrial Heteroplasmy
The current study is a prospective evaluation of the ability of ketosis to shift mitochondrial DNA (mtDNA) heteroplasmy in subjects harboring a known mutation in their mtDNA at position 3243 (A>G).
- Trial name
- NCT01252979
- Testing
- Medium-Chain Triglycerides
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- The University of Texas Health Science Center, Houston
Neoplasms, Brain
A Study to Determine Safety, Tolerability and Pharmacokinetics of Oral Dabrafenib In Children and Adolescent Subjects
This was a 2-part, Phase I/IIa, multi-center, open label, study in pediatric and adolescent patients with advanced BRAF V600 mutation-positive solid tumors.
- Trial name
- NCT01677741
- Testing
- Dabrafenib
- Where
- 26 sites in United States, Australia and 8 more
- Volunteers
- 85 people
- Sponsor
- Novartis Pharmaceuticals
LGMD2I, LGMDR9
Global FKRP Registry
Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type R9 (LGMDR9) also known as LGMD2I, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain…
- Conditions
- LGMD2I, LGMDR9, Limb Girdle Muscular Dystrophy, Congenital Muscular Dystrophy
- Trial name
- NCT04001595
- Testing
- Patient Registry
- Where
- United Kingdom
- Volunteers
- 1,000 people
- Sponsor
- Newcastle University
Retinal Degeneration, ABCA4-Related Retinopathies
Natural History of Eye Diseases Related to ABCA4 Mutations
Background: The ABCA4 gene contains a blueprint for the ABCA4 protein. When this protein is absent or faulty (such as in Stargardt s disease), waste material from dead cells collects in the eye.
- Trial name
- NCT01736293
- Where
- United States
- Volunteers
- 68 people
- Sponsor
- National Eye Institute (NEI)
Bardet-Biedl Syndrome 1, Retinal Degeneration
First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration
The goal of this first in human study is to evaluate the preliminary safety and tolerability of AXV-101 in participants with BBS1.
- Trial name
- AXIS (NCT07269665)
- Testing
- AXV-101
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- Axovia Therapeutics
RETT Syndrome With Proven MECP2 Mutation
GCB-002 in Treatment of Patients With Rett Syndrome
Study Brief Summary overall design This study explored dose escalation of single-arm, open, single intrathecal injection in female RTT subjects with MECP2 gene mutations. The investigator plans to conduct 2-3 dose groups.
- Trial name
- GITFPWRS (NCT06739434)
- Testing
- GCB-002
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Genecombio Ltd.
Schuurs-Hoeijmakers Syndrome
Personalized Antisense Oligonucleotide for A Single Participant With PACS1 Gene Mutation Associated With Schuurs-Hoeijmakers Syndrome (SHMS)
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug intended for a single participant with Schuurs-Hoeijmakers syndrome (SHMS) due to a pathogenic, de novo, heterozygous missense…
- Trial name
- NCT07474298
- Testing
- nL-PACS1-001
- Where
- Canada
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
Medium-chain Acyl-CoA Dehydrogenase Deficiency
Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
This is a medical research study to test a medication in patients 4 years of age and older with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by the common ACADM c.985 A>G (K304E) mutation.
- Trial name
- NCT06773026
- Testing
- Sodium phenylbutyrate
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Jerry Vockley, MD, PhD
Inherited BMF Syndrome
Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes
Inherited bone marrow failure syndromes (IBMFSs) are a diverse collection of genetic illnesses characterized by various degrees of peripheral cytopenias due to defective single-lineage or multi-lineage hematopoiesis, it can…
- Trial name
- NCT05436587
- Testing
- The whole-exome sequencing
- Where
- Egypt
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Sohag University
A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's Syndrome
Inherited Myokymia: A Clinical and Genetic Study of a Family
Neuromyotonia (NMT), so called Isaac's syndrome, is a rare disorder in which hyperexcitability of peripheral motor nerves leads to intermittent muscle contractions.
- Trial name
- NCT01250704
- Where
- 3 sites in Taiwan
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- China Medical University Hospital
Attention Deficit Hyperactivity Disorder
PART B: Efficacy and Safety of AEVI-001 in Children and Adolescents With ADHD and Without mGluR Mutations
This is PART B of a 2-part, 6-week, double-blind, dose-optimization, parallel-group study in children and adolescents (ages 6-17 years) with ADHD with and without CNVs in specific genes implicated in glutamatergic signaling and…
- Trial name
- NCT03609619
- Testing
- AEVI-001
- Where
- United States
- Volunteers
- 109 people
- Sponsor
- Aevi Genomic Medicine, LLC, a Cerecor company
Advanced Malignant Solid Neoplasm, Recurrent Childhood Ependymoma
Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well erdafitinib works in treating patients with solid tumors, non-Hodgkin lymphoma, or histiocytic disorders with FGFR mutations that have spread to other places in the body and…
- Conditions
- Advanced Malignant Solid Neoplasm, Recurrent Childhood Ependymoma, Recurrent Childhood Malignant Germ Cell Tumor, Recurrent Childhood Medulloblastoma
- Trial name
- NCT03210714
- Testing
- Biospecimen Collection, Bone Marrow Aspiration and Biopsy, Bone Scan
- Where
- 116 sites in United States, Puerto Rico
- Volunteers
- 20 people
- Sponsor
- National Cancer Institute (NCI)
GATA2, Immunodeficiency
Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Mutations
Background: GATA2 deficiency is a disease caused by mutations in the GATA2 gene. It can cause different types of leukemia and other diseases. Researchers want to see if a stem cell transplant can be used to treat this condition.
- Conditions
- GATA2, Immunodeficiency, MDS
- Trial name
- NCT01861106
- Testing
- Allogeneic HSCT, Busulfan Test dose, Fludarabine (Fludara, Berlex Laboratories)
- Where
- United States
- Volunteers
- 144 people
- Sponsor
- National Cancer Institute (NCI)
Chronic Myelogenous Leukemia (CML), Metastatic Gastrointestinal Stromal Tumors (GIST)
Study to Allow Access to Nilotinib for Patients Who Are on Nilotinib Treatment in a Novartis-sponsored Study
The purpose of this study was to allow continued use of nilotinib in patients who were on nilotinib treatment in a Novartis-sponsored, Oncology Clinical Development \& Medical Affairs (CD\&MA) study and were benefiting from the…
- Conditions
- Chronic Myelogenous Leukemia (CML), Metastatic Gastrointestinal Stromal Tumors (GIST), Acute Lymphoblastic Leukemia (ALL), Receptor Tyrosine Kinase (KIT) Mutated Melanoma
- Trial name
- NCT01735955
- Testing
- Nilotinib
- Where
- 33 sites in United States, Austria and 14 more
- Volunteers
- 57 people
- Sponsor
- Novartis Pharmaceuticals
Epileptic Syndromes
Electro-clinical Features and Functional Connectivity Analysis in SYN1 Gene Mutation-related Epilepsy
SYN1 gene mutation is an X-linked gene mutation that causes numerous pathological manifestations such as seizures and neurodevelopmental disorders.
- Trial name
- NCT06222840
- Testing
- Electro-clinical analysis of epileptic seizures, Electro-encephalographic cases, Clinical datas analysis
- Where
- France
- Volunteers
- 75 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne