Clinical trials: Mutations
Leber's Hereditary Optic Neuropathy
Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy
The study is a dose-escalation study, phase 1. The objective of this proposed clinical trial is to evaluate the safety of mitochondrially targeted ND4 gene therapy with the adeno-associated viral vector in appropriate LHON…
- Trial name
- LHON (NCT02161380)
- Testing
- injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),, injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med), injection of scAAV2-P1ND4v2 2.4 X10e10vg (High)
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Byron Lam
Sickle Cell Disease, Vaso-occlusive Pain Episode in Sickle Cell Disease
A Study to Assess the Safety and Efficacy of Inclacumab in Participants With Sickle Cell Disease Experiencing Vaso-occlusive Crises
This Phase 3 study will assess the safety and efficacy of inclacumab, a P-selectin inhibitor, in reducing the frequency of vaso-occlusive crises (VOCs) in approximately 240 adult and adolescent participants (≥ 12 years of age)…
- Conditions
- Sickle Cell Disease, Vaso-occlusive Pain Episode in Sickle Cell Disease, Vaso-occlusive Crisis
- Trial name
- NCT04935879
- Testing
- Inclacumab
- Where
- 58 sites in United States, Brazil and 10 more
- Volunteers
- 241 people
- Sponsor
- Pfizer
Haematological Malignancy, Malignant Neoplasm
DETERMINE Trial Treatment Arm 01: Alectinib in Adult, Paediatric and Teenage/Young Adult Patients With ALK Positive Cancers
This clinical trial is looking at a drug called alectinib. Alectinib is approved as standard of care treatment for adult patients with certain types of lung cancer.
- Conditions
- Haematological Malignancy, Malignant Neoplasm, Lymphoproliferative Disorders, Neoplasms by Histologic Type
- Trial name
- DETERMINE (NCT05770037)
- Testing
- Alectinib
- Where
- 27 sites in United Kingdom
- Volunteers
- 30 people
- Sponsor
- Cancer Research UK
Cardiomyopathy
Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy
The objective of this study is to collect information on patients with cardiomyopathy (CM) due to mutations in the MYBPC3 gene, to evaluate their disease course, burden of illness, risk factors for this disease, and the quality…
- Trial name
- MyCLIMB (NCT05112237)
- Where
- 29 sites in United States, Canada and 2 more
- Volunteers
- 200 people
- Sponsor
- Tenaya Therapeutics
Retinal Disorder
Safety and Efficacy of Zuretinol Acetate in Subjects With Inherited Retinal Disease
To evaluate the efficacy of ZA oral solution in subjects with IRD caused by biallelic recessive RPE65 or LRAT gene mutations and phenotypically diagnosed as Leber's Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP).
- Trial name
- NCT04311112
- Testing
- ZA Low dose, ZA high dose
- Where
- United States
- Sponsor
- Retinagenix Holdings
Diffuse Astrocytoma, Anaplastic Astrocytoma
Pediatric Long-Term Follow-up and Rollover Study
A roll-over study to assess long-term effect in pediatric patients treated with dabrafenib and/or trametinib.
- Conditions
- Diffuse Astrocytoma, Anaplastic Astrocytoma, Astrocytoma, Oligodendroglioma, Childhood
- Trial name
- NCT03975829
- Testing
- dabrafenib, trametinib
- Where
- 54 sites in United States, Argentina and 17 more
- Volunteers
- 163 people
- Sponsor
- Novartis Pharmaceuticals
Pompe Disease
Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease
Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00113035
- Where
- 5 sites in United States
- Volunteers
- 60 people
- Sponsor
- Genzyme, a Sanofi Company
Dravet Syndrome
Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome
This study addresses the changes in the axonal excitability parameters. It will compare these changes in patients with early infantile epileptic encephalopathy with HCN1 channel mutation and in control patients, with and without…
- Trial name
- EXCIDRAH (NCT02896608)
- Testing
- measure of neuronal excitability
- Where
- France
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Lysosomal Acid Lipase Deficiency
Lipa Gene Mutation in PED-LIPIGEN (Pediatric FH Subjects)
Familial Hypercholesterolemia (FH) is a monogenic autosomal dominant disease also known as Autosomal Dominant Hypercholesterolemia - ADH) that leads to dramatically increased levels of Low Density Lipoprotein (LDL) and total…
- Trial name
- NCT03984149
- Testing
- Observational study
- Where
- 4 sites in Italy
- Volunteers
- 1,000 people
- Sponsor
- Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)
Genetic Diseases
Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality
The MENDEL-study will investigate whether the use of gene panel or whole genome sequencing (WGS) will: 1. improve the rate of diagnosis and through this compare the performance of the two diagnostic approaches (gene panel vs.
- Trial name
- MENDEL (NCT02380729)
- Testing
- Gene Panel Sequencing, Whole Genome Sequencing (WGS)
- Where
- 3 sites in Germany
- Volunteers
- 200 people
- Sponsor
- Charite University, Berlin, Germany
Congenital Diaphragmatic Hernia
Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (CDH) occurs when the diaphragm, the muscle that separates the chest cavity from the abdominal cavity, does not form properly.
- Trial name
- NCT01098929
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
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
Relapsed AML, T(8;21)
Dasatinib Combined With Chemotherapy in Relapsed t(8;21) Acute Myeloid Leukemia With KIT D816 Mutation
In this multi-center, open-label, no control,prospective clinical trial, a total of 30 relapsed acute myeloid leukemia with t(8;21) translocation and KIT D816 mutation patients will be enrolled.
- Conditions
- Relapsed AML, T(8;21), C-KIT Mutation
- Trial name
- NCT03560908
- Testing
- Dasatinib
- Where
- China
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Inherited Retinal Degeneration Associated With RPGR Mutations, Inherited Retinal Degeneration Associated With Biallelic RPE65 Mutations
Monitoring and Early Detection of Treatable Inherited RETinal Disease in Children and Adolescents
The goals of this observational study are to develop and train artificial intelligence (AI) algorithms using multimodal imaging to identify patients with inherited retinal degeneration (IRD) caused by Retinal Pigment Epithelium…
- Trial name
- MEDIRET (NCT07901907)
- Where
- 3 sites in United States, Germany and 1 more
- Volunteers
- 4,887 people, healthy volunteers welcome
- Sponsor
- University College, London
Pentalogy of Cantrell
Mutations in Genes Associated With Pentalogy of Cantrell
This study will collect blood, urine, and other tissue samples from patients with Pentalogy of Cantrell (POC) and other inherited diseases that may involve mutations in non-muscle myosin II-B heavy chain (MYH10).
- Trial name
- NCT00083499
- Where
- 2 sites in United States
- Volunteers
- 59 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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)
Retinitis Pigmentosa Associated With CNGB1 Mutations
CNGB1 and Allied Disorders
Mutations in the rod-expressed gene, cyclic nucleotide-gated channel beta subunit (CNGB1) and associated inborn errors in metabolism are causes of retinal disease that causes progressive loss of vision.
- Trial name
- NCT04639635
- Testing
- No intervention, this is a natural history progression study
- Where
- 6 sites in United States, France and 2 more
- Volunteers
- 20 people
- Sponsor
- Columbia University
Acute Myeloid Leukemias
Study of Revumenib in Combination With Intensive Chemotherapy in Newly Diagnosed Acute Myeloid Leukemia (AML) With a NPM1 Mutation
The purpose of this study is to assess if adding revumenib to standard chemotherapy improves outcomes in participants with AML with certain genetic mutations compared to chemotherapy alone.
- Trial name
- REVEAL-ND NPM1 (NCT07211958)
- Testing
- Revumenib, Intensive Chemotherapy Regimen
- Where
- 173 sites in United States, Argentina and 21 more
- Volunteers
- 468 people
- Sponsor
- Syndax Pharmaceuticals
Cystic Fibrosis
Extension Study of Ataluren (PTC124) in Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder caused by a mutation in the gene that makes the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
- Trial name
- NCT01140451
- Testing
- Ataluren
- Where
- 31 sites in United States, Belgium and 9 more
- Volunteers
- 191 people
- Sponsor
- PTC Therapeutics
Cystic Fibrosis
A Phase 3 Study of VX-445 Combination Therapy in Cystic Fibrosis (CF) Subjects Heterozygous for F508del and a Gating or Residual Function Mutation (F/G and F/RF Genotypes)
This study will evaluate the efficacy, safety and pharmacodynamics of elexacaftor (ELX, VX-445) in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are heterozygous for…
- Trial name
- NCT04058353
- Testing
- ELX/TEZ/IVA, IVA, TEZ/IVA
- Where
- 93 sites in United States, Australia and 11 more
- Volunteers
- 271 people
- Sponsor
- Vertex Pharmaceuticals Incorporated