Clinical trials: Mutation Abnormality
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
CTNNB1 Gene Mutation
Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation
The aim of this study is to explore and define the correlations between genotype and phenotype in patients with CTNNB1 mutations as well as monitor and survey the natural history of the CTNNB1 syndrome.
- Trial name
- Gen-Phe CTNNB1 (NCT04812119)
- Testing
- The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F), The Autism Spectrum Quotient-Children's Version (AQ-Child), The Autism-Spectrum Quotient (AQ)-Adolescent Version (AQ-Adolescent)
- Where
- 3 sites in Australia, Slovenia
- Volunteers
- 100 people
- Sponsor
- University Medical Centre Ljubljana
Cystic Fibrosis, Advanced Lung Disease
Study to Evaluate Lumacaftor and Ivacaftor Combination Therapy in Subjects 12 Years and Older With Advanced Lung Disease
The purpose of this study is to evaluate the safety and tolerability of LUM/IVA combination therapy in subjects 12 years and older with CF and advanced lung disease and who are homozygous for the F508del CFTR mutation
- Trial name
- NCT02390219
- Testing
- Lumacaftor, Ivacaftor
- Where
- 6 sites in United States
- Volunteers
- 46 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant
Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation
The purpose of this study is to characterize the disease progression of confirmed OPA1 mutation-associated autosomal dominant optic atrophy (ADOA) by evaluating the changes in ocular structural and functional outcomes.
- Conditions
- Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant, Optic Atrophies, Hereditary, Kjer Optic Atrophy
- Trial name
- NCT06140329
- Where
- 7 sites in United States, Australia and 4 more
- Volunteers
- 1 people
- Sponsor
- PYC Therapeutics
HIV Infections
A Study of 1592U89 in Combination With Protease Inhibitors in HIV-Infected Patients Who Have Never Taken Anti-HIV Drugs
The purpose of this study is to see if it is safe and effective to give 1592U89 plus certain protease inhibitors (PIs) to HIV-infected patients who never have been treated with anti-HIV drugs.
- Trial name
- NCT00002440
- Testing
- Indinavir sulfate, Ritonavir, Abacavir sulfate
- Where
- 8 sites in United States
- Volunteers
- 80 people
- Sponsor
- Glaxo Wellcome
Bladder Cancer
Cost-Effectiveness in Bladder Cancer
This randomized clinical multicentre trial aims to evaluate the efficacy of microsatellite analysis on voided urine to detect tumour recurrences in the follow-up of patients with superficial urothelialcell carcinoma (UCC).
- Trial name
- NCT00126958
- Testing
- urinary analysis
- Volunteers
- 500 people
- Sponsor
- Erasmus Medical Center
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
Family Study HbA2 Leuven Mutation.
HbA2 Leuven and Its Impact on HbA1c Results
The study is designed to demonstrate HbA2 Leuven mutation and to asssess its impact on routine HbA1c measurements.
- Trial name
- HbA2 Leuven (NCT01909648)
- Testing
- Blood withdrawal
- Where
- Belgium
- Volunteers
- 10 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Congenital Hypothyroidism
TG Gene Mutations and Congenital Hypothyroidism
The aim of this study was to identify mutations in the thyroglobulin gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.
- Trial name
- NCT00493103
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Metastatic Colorectal Cancer
A Study of Encorafenib Plus Cetuximab Taken Together With Pembrolizumab Compared to Pembrolizumab Alone in People With Previously Untreated Metastatic Colorectal Cancer
The purpose of this study is to learn about the effects of three study medicines (encorafenib, cetuximab, and pembrolizumab) given together for the treatment of colorectal cancer that: is metastatic (spread to other parts of the…
- Trial name
- SEAMARK (NCT05217446)
- Testing
- Encorafenib, Cetuximab, Pembrolizumab
- Where
- 59 sites in United States, Australia and 13 more
- Volunteers
- 108 people
- Sponsor
- Pfizer
Cystic Fibrosis
Study of VX-661 Alone and in Combination With Ivacaftor in Subjects Homozygous or Heterozygous to the F508del-Cystic Fibrosis Transmembrane Conductance Regulator(CFTR) Mutation
The purpose of this study is to evaluate the safety, efficacy, pharmacokinetics (PK), and pharmacodynamics (PD) effects of VX-661 alone and when coadministered with ivacaftor in participants with cystic fibrosis (CF) who are…
- Trial name
- NCT01531673
- Testing
- VX-661, Ivacaftor
- Where
- 36 sites in United States, Canada and 2 more
- Volunteers
- 194 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
PTEN Gene Mutation
Cancer Risk Assessment in Patients With a Constitutional Alteration of the PTEN Gene
This is a multicentric, observational, retrospective and prospective study, aiming to estimate the risk of cancer occurrence in subjects carrying a PTEN mutation, based on the constitution of a national cohort.
- Trial name
- COCO (NCT05630105)
- Where
- 45 sites in France
- Volunteers
- 430 people
- Sponsor
- Institut Bergonié
Glucocorticoids Deficiency
Ascorbic Acid Treatment in Congenital Glucocorticoids and Mineralocorticoids Deficiency Due to NNT Mutation
Nicotinamide nucleotide transhydrogenase (NNT) mutations cause glucocorticoid and mineralocorticoid deficiencies through decreased detoxification of reactive oxygen species (ROS) in adrenocortical cells.
- Trial name
- NCT02838472
- Testing
- Ascorbic Acid
- Where
- Israel
- Volunteers
- 3 people
- Sponsor
- Hadassah Medical Organization
Cystic Fibrosis
A Study to Evaluate the Efficacy and Safety of VX-661 in Combination With Ivacaftor in Subjects Aged 12 Years and Older With Cystic Fibrosis, Heterozygous for the F508del-CFTR Mutation
Study to evaluate the efficacy of VX-661 in combination with ivacaftor (IVA, VX-770) through Week 12 in participants with cystic fibrosis (CF) who are heterozygous for the F508del mutation on the CF transmembrane conductance…
- Trial name
- NCT02516410
- Testing
- VX-661 plus ivacaftor combination, Ivacaftor
- Where
- 41 sites in United States, Australia and 5 more
- Volunteers
- 168 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
X-Linked Hypophosphatemia
Registry for Patients With X-Linked Hypophosphatemia
This is an international, multicentre, prospective, non-interventional, observational Registry of patients with X-Linked hypophosphatemia (XLH).
- Trial name
- NCT03193476
- Where
- 118 sites in Belgium, Bulgaria and 18 more
- Volunteers
- 1,489 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Breast Cancer
Homologous Recombination Repair Pathway Gene Mutation Spectrum in Chinese Breast Cancer Patients
The goal of this clinical trial is to learn about the mutation spectrum of homologous recombination repair pathway genes and its instructive significance in the treatment of Chinese breast cancer patients.
- Trial name
- NCT05901025
- Volunteers
- 5,000 people
- Sponsor
- Shanghai Jiao Tong University School of Medicine
Acute Biphenotypic Leukemia, Acute Erythroid Leukemia in Remission
Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
This phase II trial studies how well donor peripheral blood stem cell (PBSC) transplant works in treating patients with hematologic malignancies.
- Conditions
- Acute Biphenotypic Leukemia, Acute Erythroid Leukemia in Remission, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia in Remission
- Trial name
- NCT01028716
- Testing
- Cyclophosphamide, Filgrastim, Fludarabine Phosphate
- Where
- United States
- Volunteers
- 46 people
- Sponsor
- Fred Hutchinson Cancer Center
Retinal Dystrophies, Color Vision Defects
Natural History Study of Inherited Retinal Diseases
This prospective, observational investigation seeks to delineate the interplay between chromatic vision deficits and both functional visual outcomes and anatomical retinal biomarkers in individuals affected by Inherited Retinal…
- Conditions
- Retinal Dystrophies, Color Vision Defects, Vision Disorders, Macular Degeneration
- Trial name
- MojiLVCDT (NCT07085533)
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Augelux Therapeutics
Pleuropulmonary Blastoma, Sertoli-Leydig Cell Tumor
International PPB/DICER1 Registry
PPB has strong genetic implications, with a unique set of conditions in an individual or their family, occurring mostly in childhood and adolescence.
- Conditions
- Pleuropulmonary Blastoma, Sertoli-Leydig Cell Tumor, DICER1 Syndrome, Cystic Nephroma
- Trial name
- NCT03382158
- Where
- United States
- Volunteers
- 3,400 people, healthy volunteers welcome
- Sponsor
- Children's Hospitals and Clinics of Minnesota
Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer
MyVHL: Patient Natural History Study
MyVHL is a multi-patient database which helps researchers identify patterns across VHL patients. MyVHL provides you -and researchers -with more complete information about VHL, like how your lifestyle, medications, and other…
- Conditions
- Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, SDHB Gene Mutation
- Trial name
- MyVHL (NCT03749980)
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Joshua Mann, MPH