Clinical trials: Mutations
Pseudohermaphroditism, Congenital Adrenal Hyperplasia
Mutation Analysis of 17α-Hydroxylase
To elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.
- Conditions
- Pseudohermaphroditism, Congenital Adrenal Hyperplasia, Hypertension
- Trial name
- NCT00172510
- Testing
- blood drawing
- Where
- Taiwan
- Volunteers
- 25 people
- Sponsor
- National Taiwan University Hospital
Inherited Retinal Dystrophy
Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
Up to nine subjects who have participated in the earlier LX101 clinical study, and who meet all study eligibility criteria, will receive LX101 administration in the previously uninjected, contralateral eye to evaluate the safety…
- Trial name
- NCT06212297
- Testing
- LX101
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Innostellar Biotherapeutics Co.,Ltd
Generalized Pustular Psoriasis
Biologic Therapy for Generalized Pustular Psoriasis
The investigators aim to compare the efficacy and safety of secukinumab and ustekinumab in patients with generalized pustular psoriasis (GPP), and to explore the impact of genetic mutation types on clinical efficacy.
- Trial name
- NCT06391996
- Testing
- After exclusion of relevant contraindications, participants received subcutaneous ustekinumab/secukinumab therapy.
- Where
- China
- Volunteers
- 65 people
- Sponsor
- Chao Ji
Leptin Receptor Deficiency Obesity
Setmelanotide for the Treatment of Leptin Receptor (LEPR) Deficiency Obesity
To demonstrate statistically significant and clinically meaningful effects of setmelanotide on percent body weight change in participants with LEPR deficiency obesity due to rare bi-allelic or loss-of function mutations at the…
- Trial name
- NCT03287960
- Testing
- Setmelanotide
- Where
- 6 sites in Canada, France and 4 more
- Volunteers
- 15 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
NSCLC, Stage I, NSCLC, Stage II
A Real-world Study of Adjuvant Therapy in Early Stage NSCLC With EGFR Mutation-Positive in China
This study is a prospective, national, multi-center, non-interventional study. The main purpose is to explore the initial adjuvant treatment pattern after radical resection for early-stage NSCLC patients with EGFR…
- Conditions
- NSCLC, Stage I, NSCLC, Stage II, NSCLC, Stage III
- Trial name
- ADDRESS (NCT04830826)
- Testing
- Surgeries
- Where
- 51 sites in China
- Volunteers
- 1,490 people
- Sponsor
- The First Affiliated Hospital of Guangzhou Medical University
C-KIT Mutation
A Study of c-Kit Mutation as MRD in Acute Myeloid Leukemia
C-Kit is involved in an essential pathway of disease occurrence and is closely related to the poor prognosis of patients. However, the clinical significance of c-Kit mutation as molecular MRD monitoring is still unclear.
- Trial name
- NCT06116318
- Where
- China
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant
A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy.
- Trial name
- OPA-LONG (NCT07729982)
- Where
- Germany
- Volunteers
- 50 people
- Sponsor
- Ludwig-Maximilians - University of Munich
Neural Tumors
Analysis of NF2 Mutations in Radiation-Related Neural Tumors
Adults treated with X-rays in childhood for benign conditions such as enlarged tonsils and adenoids have an increased risk of developing nervous system tumors.
- Trial name
- NCT00340496
- Where
- United States
- Volunteers
- 112 people
- Sponsor
- National Cancer Institute (NCI)
Cystic Fibrosis
Does a Nasal Instillation of Vardenafil Normalize the Nasal Potential Difference in Cystic Fibrosis Patients?
The purpose of this study is to investigate the effect of a nasal instillation of Vardenafil on nasal potential difference in cystic fibrosis patients homozygous for the F508del mutation
- Trial name
- NCT01002534
- Testing
- Vardenafil
- Where
- Belgium
- Volunteers
- 5 people
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Duchenne Muscular Dystrophy
Phase 2a Extension Study of Ataluren (PTC124) in Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function.
- Trial name
- NCT00759876
- Testing
- Ataluren
- Where
- 3 sites in United States
- Volunteers
- 36 people
- Sponsor
- PTC Therapeutics
X-linked Myotubular Myopathy
Myotubular Myopathy Event Study
X-Linked myotubular myopathy (XLMTM), a form of centronuclear myopathy (CNM) is the result of a mutation in the MTM1 (myotubularin) gene which leads to altered myotubularin. Myotubularin is essential for optimum muscle function.
- Trial name
- MTMES (NCT01840657)
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Cure CMD
Partial Hearing Loss
Genetic Analysis of Human Hereditary Hearing Impairment
This studied is designed to discover the genes that cause hearing impairment. More precisely, this study aims to map and clone genes that are important for the development and maintenance of the anatomy and physiology related to…
- Trial name
- NCT00001606
- Where
- United States
- Volunteers
- 404 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
AML, IDH1 Mutation
Venetoclax in Combination With Ivosidenib and Azacitidine for Newly Diagnosed IDH1-Mutated AML
Venetoclax can bind to the BCL-2 protein, thereby initiating the apoptosis program and exerting anti-AML effects. The induction regimen combining venetoclax with hypomethylating agents (HMA) significantly improves the remission…
- Conditions
- AML, IDH1 Mutation, Treatment
- Trial name
- IDH1-AML-2024 (NCT06611839)
- Testing
- Ivosidenib, Venetoclax, Azacitidine
- Where
- China
- Volunteers
- 23 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation
Rucaparib in Treating Patients With Genomic LOH High and/or Deleterious BRCA1/2 Mutation Stage IV or Recurrent Non-small Cell Lung Cancer (A Lung-MAP Treatment Trial)
This phase II Lung-MAP trial studies how well rucaparib works in treating patients with genomic loss of heterozygosity (LOH) high and/or deleterious BRCA1/2 mutation stage IV non-small cell lung cancer or that has come back.
- Conditions
- Deleterious BRCA1 Gene Mutation, Deleterious BRCA2 Gene Mutation, Loss of Heterozygosity, Lung Non-Small Cell Squamous Carcinoma
- Trial name
- NCT03845296
- Testing
- Rucaparib
- Where
- 950 sites in United States
- Volunteers
- 64 people
- Sponsor
- SWOG Cancer Research Network
Medullary Thyroid Cancer
Natural History Study of Children and Adults With Medullary Thyroid Cancer
Background: Medullary thyroid cancer (MTC) is a rare cancer of the thyroid gland. In children and adults, it is often part of a condition called Multiple Endocrine Neoplasia 2 (MEN2).
- Trial name
- NCT01660984
- Where
- United States
- Volunteers
- 105 people
- Sponsor
- National Cancer Institute (NCI)
Bainbridge-Ropers Syndrome
Personalized Antisense Oligonucleotide Therapy for A Single Participant With ASXL3 Gene Mutation
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Bainbridge-Ropers Syndrome (BRPS) due to a pathogenic, de novo nonsense variant in ASXL3
- Trial name
- NCT07197268
- Testing
- nL-ASXL3-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
Heterozygous Familial Hypercholesterolemia
Trial Assessing Efficacy, Safety and Tolerability of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Inhibition in Paediatric Subjects With Genetic Low-Density Lipoprotein (LDL) Disorders
A study to assess safety and efficacy of evolocumab (AMG-145) in paediatric subjects aged 10-17 years diagnosed with heterozygous familial hypercholesterolemia.
- Trial name
- HAUSER-RCT (NCT02392559)
- Testing
- Evolocumab
- Where
- 66 sites in United States, Australia and 24 more
- Volunteers
- 158 people
- Sponsor
- Amgen
Recurrent Childhood Acute Myeloid Leukemia, Recurrent Childhood Acute Lymphoblastic Leukemia
Ex Vivo Drug Sensitivity Testing and Mutation Profiling
This study is a prospective, non-randomized feasibility study. Freshly isolated tumor cells from patients will be screened using state-of-the-art viability assay designed for ex vivo high-throughput drug sensitivity testing…
- Conditions
- Recurrent Childhood Acute Myeloid Leukemia, Recurrent Childhood Acute Lymphoblastic Leukemia, Recurrent Childhood Large Cell Lymphoma, Refractory Childhood Acute Lymphoblastic Leukemia
- Trial name
- NCT03860376
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Florida International University
Leber Congenital Amaurosis 10, Blindness
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A>G…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Sensation Disorders
- Trial name
- HYPERION (NCT06891443)
- Testing
- sepofarsen
- Where
- 18 sites in United States, Australia and 8 more
- Volunteers
- 32 people
- Sponsor
- Laboratoires Thea
Denys-Drash Syndrome, Frasier Syndrome
Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases
The Wilms' tumor suppressor gene 1 (WT1) encodes for a transcription factor which plays an important role during urogenital development.
- Conditions
- Denys-Drash Syndrome, Frasier Syndrome, Nephrotic Syndrome, Wilms Tumor
- Trial name
- NCT01252901
- Where
- Germany
- Volunteers
- 52 people
- Sponsor
- Universitätsklinikum Hamburg-Eppendorf