Clinical trials: Mutations
LIPIN1 Deficiency
Acute Rhabdomyolysis and Muscle Pain Associated With Mutations in the LPIN1 Gene - A Retrospective Study Describing the Safety and Efficacy of Hydroxychloroquine Sulfate Given on a Compassionate Basis to Patients Suffering From Lipin-1 Deficiency
Lipin-1 deficiencies are responsible for severe rhabdomyolysis and muscle pain in childhood. A specific treatment does not exist.
- Trial name
- LIPIN-1-METAB (NCT04007562)
- Testing
- Hydroxychloroquine Sulfate
- Where
- France
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Ovarian Cancer
FLABRA: Frontline Approach for BRCA Testing in OC Treatment naïve Population. A LATIN AMERICA Epidemiologic Study
This study aims to answer very important questions regarding the prevalence of somatic and germline mutations (sBRCAm and gBRCAm) in a population of newly diagnosed ovarian cancer patients from Latin America.
- Trial name
- FLABRA (NCT02984423)
- Where
- 27 sites in Argentina, Brazil and 4 more
- Volunteers
- 471 people
- Sponsor
- AstraZeneca
Activated PI3Kdelta Syndrome (APDS); PASLI Disease
Extension to the Study of Efficacy of CDZ173 in Patients With APDS/PASLI
This study is designed to provide long-term CDZ173 treatment, a selective PI3Kδ inhibitor, to the patients with genetically activated PI3Kδ, i.e., patients with APDS/PASLI who participated in the CCDZ173X2201 study or who were…
- Trial name
- NCT02859727
- Testing
- CDZ173
- Where
- 8 sites in United States, Belarus and 5 more
- Volunteers
- 37 people
- Sponsor
- Pharming Technologies B.V.
Epithelial Ovarian Cancer, Epithelial Ovarian Tumor of Borderline Malignancy
A Genomic Analysis of Evolution of Epithelia Ovarian Tumors
Epithelial ovarian carcinomatous and borderline components sometimes appeared in one patient. This study aims to analyze the genomic patterns of the carcinomatous and borderline components in the ovarian epithelial tissues.
- Conditions
- Epithelial Ovarian Cancer, Epithelial Ovarian Tumor of Borderline Malignancy, Driving Mutations, Progression-free Survival
- Trial name
- NCT03742388
- Where
- China
- Volunteers
- 40 people
- Sponsor
- Lei Li
AML, Adult
Avapritinib Maintenance for AML With KIT Mutations
A multicenter, single-arm clinical study of evaluate the efficacy and safety of avapritinib as maintenance therapy following allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia patients with KIT mutation.
- Trial name
- NCT06765915
- Testing
- Avapritinib
- Where
- China
- Volunteers
- 47 people
- Sponsor
- Ruijin Hospital
Alport Syndrome, X-Linked, Alport Syndrome, Autosomal Recessive
EXACT Study: A Blinded Study in Patients With Alport Syndrome to Evaluate Exaluren Efficacy and Safety
This is a randomized, double-Blind, placebo-controlled study to evaluate the efficacy and safety of exaluren in Alport Syndrome patients with nonsense mutations in COL4A3/4/5 genes.
- Trial name
- NCT07523581
- Testing
- Exaluren
- Where
- 11 sites in United States, United Kingdom
- Volunteers
- 24 people
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Astrocytoma, Glioblastoma
Detecting Malignant Brain Tumor Cells in the Bloodstream During Surgery to Remove the Tumor
Glioblastomas, the most frequent malignant brain tumor in adults, are widespread in the brain, despite their discrete appearance on computed tomography (CT) or magnetic resonance imaging (MRI).
- Conditions
- Astrocytoma, Glioblastoma, Glioma
- Trial name
- NCT00001148
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Zellweger Spectrum Disorder
Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort. The objective of this study is to gather information so the investigators can: 1.
- Trial name
- ZSDvision (NCT06190626)
- Where
- 3 sites in United States, Canada
- Volunteers
- 30 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease
Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
This study evaluates the efficacy of rifampin in the treatment of hypercalcemia and/or hypercalciuria in participants with at least one inactivating mutation of the CYP24A1 gene.
- Conditions
- Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease, Hypercalcemia, Idiopathic, of Infancy, Hypercalciuric Hypercalcemia
- Trial name
- RICHH (NCT03301038)
- Testing
- Rifampin
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Children's Hospital of Philadelphia
Cystic Fibrosis
Safety and Pharmacokinetic Study of Lumacaftor/Ivacaftor in Subjects Aged 2 Through 5 Years With Cystic Fibrosis, Homozygous for F508del
This is a Phase 3, 2-part (Part A and Part B), open-label, multicenter study evaluating the pharmacokinetics (PK), safety, tolerability, and pharmacodynamics (PD) of multiple doses of lumacaftor/ivacaftor (LUM/IVA) in subjects 2…
- Trial name
- NCT02797132
- Testing
- LUM/IVA
- Where
- 20 sites in United States, Canada
- Volunteers
- 62 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
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
Leukocyte Adhesion Defect - Type I
A Clinical Trial to Evaluate the Safety and Efficacy of RP-L201 in Subjects With Leukocyte Adhesion Deficiency-I
The primary purpose of the Phase I portion of the study is to assess the therapeutic safety and preliminary efficacy of a hematopoietic cell-based gene therapy consisting of autologous CD34+ enriched cells transduced with the…
- Trial name
- NCT03812263
- Testing
- RP-L201
- Where
- 3 sites in United States, Spain and 1 more
- Volunteers
- 9 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Interstitial Lung and Liver Disease, Infantile Liver Failure Syndrome 1
Impact of Mutations in Aminoacyl tRNA Synthetases on Protein Translation and Cellular Stress
Mutations in the genes encoding cytosolic aminoacyl-tRNA synthetases are responsible for early-onset multisystemic diseases including to varying degrees interstitial lung disease, liver damage, neurological and digestive…
- Conditions
- Interstitial Lung and Liver Disease, Infantile Liver Failure Syndrome 1, Neurologic, Endocrine and Pancreatic Disease, Multisystem, Infantile-Onset 2, Rajab Interstitial Lung Disease With Brain Calcifications 2
- Trial name
- FIBROMARS (NCT05514470)
- Testing
- Skin biopsy
- Where
- France
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cystic Fibrosis
A Study Evaluating Efficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor in Subjects 6 Through 11 Years of Age With Cystic Fibrosis and F/MF Genotypes
This study will evaluate the efficacy and safety of elexacaftor (ELX) / tezacaftor (TEZ) / ivacaftor (IVA) triple combination (TC) in subjects 6 through 11 years of age with cystic fibrosis (CF) who are heterozygous for F508del…
- Trial name
- NCT04353817
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 34 sites in Australia, Canada and 8 more
- Volunteers
- 121 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Early T Acute Lymphoblastic Leukemia, T-Acute Lymphoblastic Leukemia
Venetoclax + Azacytidine for Newly Diagnosed ETP-like ALL and T-ALL With Myeloid Mutations
The goal of this clinical trial is to evaluate the efficacy and safety of venetoclax combined with azacitidine in treating newly diagnosed early T-cell precursor (ETP)-like acute lymphoblastic leukemia (ALL), T-ALL with myeloid…
- Conditions
- Early T Acute Lymphoblastic Leukemia, T-Acute Lymphoblastic Leukemia, Mixed Phenotype Acute Leukemia, T/Myeloid, Nos
- Trial name
- NCT07012447
- Testing
- Venetoclax, Azacitidine, Cytarabine
- Where
- China
- Volunteers
- 32 people
- Sponsor
- yuejun Liu
Spastic Paraplegia Type 50
Administration of MELPIDA to Determine the Safety and Efficacy for Patients With Spastic Paraplegia Type 50
This will be a first-in-human Phase I, open-label, single dose clinical study of MELPIDA administered intrathecally (IT) through a lumbar puncture (LP) to a single subject with confirmed pathogenic mutations in the Adaptor…
- Trial name
- NCT06069687
- Testing
- MELPIDA
- Where
- Canada
- Volunteers
- 1 people
- Sponsor
- The Hospital for Sick Children
Permanent Neonatal Diabetes Mellitus
Long-Term Sulfonylurea Response in KCNJ11 Neonatal Diabetes
The purpose of this study is to investigate long term response of sulfonylurea and glucose control in children with diabetes due to mutations in KCNJ11 that have been switched from insulin injections to sulfonylurea tablets.
- Trial name
- SuResponsKIR (NCT02624817)
- Testing
- Sulfonylurea
- Where
- Norway
- Volunteers
- 90 people
- Sponsor
- Haukeland University Hospital
Epilepsy
Impact of Thermocoagulation During Invasive EEG Monitoring in Children With Focal Drug-resistant Epilepsies
When focal epilepsies become drug-resistant, it could be eligible for cortical surgical resection. Therefore, an invasive EEG monitoring with depth electrodes is often needed during presurgical evaluation.
- Trial name
- COAG (NCT02886650)
- Testing
- Thermocoagulation
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
SH2B1 Deficiency Obesity, Obesity Associated With PCSK1 Mutation (rs6232 Variant)
An Open-Label Study of Diazoxide Choline in Patients With Genetic Obesities
This is a phase 2 open-label, one-arm, clinical study to evaluate the efficacy and safety of DCCR (diazoxide choline) extended-release tablets over 1 year of treatment, in patients with genetic obesities.
- Conditions
- SH2B1 Deficiency Obesity, Obesity Associated With PCSK1 Mutation (rs6232 Variant), SIM1 Deficiency Obesity
- Trial name
- NCT05532020
- Testing
- DCCR (diazoxide choline) extended-release tablets
- Sponsor
- Soleno Therapeutics, Inc.
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