Clinical trials: Genetic Mutation
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia
Natural History Study of Patients with HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
- Conditions
- Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease
- Trial name
- NCT05848271
- Testing
- Patient Registry, Dry blood spots sampling
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of California, San Diego
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
Muscular Disorders, Atrophic, Muscular Diseases
Managed Access Program for Del-zota in Participants With DMD Mutations Amenable to Exon 44 Skipping
The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping.
- Conditions
- Muscular Disorders, Atrophic, Muscular Diseases, Musculoskeletal Diseases, Neuromuscular Diseases
- Trial name
- NCT07250737
- Testing
- delpacibart zotadirsen
- Where
- 22 sites in United States
- Sponsor
- Avidity Biosciences, Inc.
Influenza, Human
A Pilot Study of Influenza Viruses Isolated From Immunocompromised Children and Adolescents
The purpose of the proposed study is to gather critical information that may be useful in designing effective prevention and treatment strategies for control of seasonal influenza and an influenza pandemic.
- Trial name
- NCT02352389
- Testing
- Blood sample, Nasal swab, Oropharyngeal swab
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- St. Jude Children's Research Hospital
Cystic Fibrosis
Study of Ataluren (PTC124) in Cystic Fibrosis
The primary objective of this study is to determine the long-term safety and tolerability of ataluren in participants with nonsense mutation cystic fibrosis (nmCF) who completed participation in the double-blind study…
- Trial name
- NCT02107859
- Testing
- Ataluren
- Where
- 17 sites in United States, Belgium and 5 more
- Volunteers
- 61 people
- Sponsor
- PTC Therapeutics
Cystic Fibrosis
A Study to Evaluate ELX/TEZ/IVA on Cough and Physical Activity in Participants With Cystic Fibrosis (CF)
This study will evaluate the effects of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) on cough and physical activity using wearable technology in CF participants.
- Trial name
- NCT04969224
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 19 sites in Australia, Belgium and 2 more
- Volunteers
- 82 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Genetic Disease, Nonsense Mutation
A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis
This is a Phase 2 open label study to evaluate the safety, tolerability, PK, and PD of multiple dose levels of SC administered ELX-02 in patients with cystinosis with nonsense mutation in at least one allele.
- Conditions
- Genetic Disease, Nonsense Mutation, Cystinosis
- Trial name
- NCT04069260
- Testing
- ELX-02
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Cystic Fibrosis
Evaluation of Efficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor (ELX/TEZ/IVA) in Cystic Fibrosis Subjects Without an F508del Mutation
This study evaluated the efficacy, pharmacodynamics (PD) and safety of ELX/TEZ/IVA in participants 6 years of age and older with a non-F508del ELX/TEZ/IVA-responsive cystic fibrosis transmembrane conductance regulator gene (CFTR)…
- Trial name
- NCT05274269
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 90 sites in Austria, Belgium and 13 more
- Volunteers
- 307 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
NF1, Neurofibromatosis
Cabozantinib for Plexiform Neurofibromas (PN) in Subjects With NF1 in Children and Adults
This study, "A Phase II Study of Cabozantinib (XL l84) for Plexiform Neurofibromas in Subjects with Neurofibromatosis Type I in Children and Adults diagnosed with Neurofibromatosis Type 1 (NF1) and have a type of tumor called a…
- Conditions
- NF1, Neurofibromatosis, Plexiform Neurofibromas
- Trial name
- NF105-CABO (NCT02101736)
- Testing
- Cabozantinib
- Where
- 12 sites in United States
- Volunteers
- 45 people
- Sponsor
- University of Alabama at Birmingham
Inherited Retinal Dystrophy Due to RPE65 Mutations, Leber Congenital Amaurosis
Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
The study is a Phase 3, open-label, randomized controlled trial of gene therapy intervention by subretinal administration of AAV2-hRPE65v2 (voretigene neparvovec-rzyl).
- Trial name
- NCT00999609
- Testing
- AAV2-hRPE65v2,voretigene neparvovec-rzyl
- Where
- 2 sites in United States
- Volunteers
- 31 people
- Sponsor
- Spark Therapeutics, Inc.
Skeletal Class III Malocclusion
Figuring Out the Genetic Mutations That Lead to Lower Jaw Advancement More Than the Upper Jaw
Purpose of the Research: To reveal the genetic cause for the occurrence of Class III malocclusion, or what may be described as a reverse bite (underbite). Introduction and Detailed Procedures for the Patient (Work Plan): 1.
- Trial name
- NCT07749638
- Where
- Egypt
- Volunteers
- 93 people
- Sponsor
- Cairo University
Duchenne Muscular Dystrophy, Exon 44
Study of AOC 1044 in Healthy Adult Volunteers and Participants With Duchenne Muscular Dystrophy (DMD) Mutations Amenable to Exon 44 Skipping
AOC 1044-CS1 (EXPLORE44) is a Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamic effects of single and multiple ascending doses of AOC 1044 in healthy adult volunteers and participants…
- Trial name
- EXPLORE44 (NCT05670730)
- Testing
- AOC 1044
- Where
- 10 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Avidity Biosciences, Inc.
Hereditary Elliptocytosis (HE), Hereditary Pyropoikilocytosis (HPP)
A Novel Mutation of the Spectrin Gene
The purpose of this study is to find a gene or its mutation (an altered gene) that puts individuals at risk for developing HE or HPP.
- Trial name
- NCT00723567
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- University of Utah
Chiari Malformation, Type 1
Identification of Genetic Mutations Involved in Chiari Type I Malformations
Although most cases of Chiari malformation type I (CM1) are sporadic, familial cases of CM1, with or without syringomyelia, suggest a genetic cause in the pathogenesis of these malformations.
- Trial name
- ChiariGene (NCT05165030)
- Testing
- Blood Sample
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Craniosynostosis, Muenke Syndrome
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
This study will explore the range and type of medical and developmental problems in patients with Muenke syndrome, a condition that results when one or more of the suture between the bones of the skull close before birth.
- Trial name
- NCT00106977
- Where
- 2 sites in United States
- Volunteers
- 137 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Cystic Fibrosis
A Study to Evaluate the Safety and Efficacy of Long-term Treatment With TEZ/IVA in CF Participants With an F508del CFTR Mutation
This study evaluates the long-term safety and tolerability of tezacaftor in combination with ivacaftor (TEZ/IVA) in participants with cystic fibrosis (CF) aged 6 years and older, homozygous or heterozygous for the F508del…
- Trial name
- NCT03537651
- Testing
- TEZ/IVA, IVA
- Where
- 55 sites in United States, Australia and 9 more
- Volunteers
- 130 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Neurodevelopmental Disorder With or Without Variable Brain Abnormalities
Personalized Antisense Oligonucleotide for a Single Participant With MAPK8IP3 Neurodevelopmental Disorder With or Without Variable Brain Abnormalities (NEDBA)
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Neurodevelopmental Disorder with or without Brain Abnormalities (NEDBA) due to a heterozygous…
- Trial name
- NCT07197294
- Testing
- nL-MAPK8-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
Paraganglioma, Pheochromocytoma
Development of a Predictive Model for the Risk of Metastatic Disease in PPGLs, a Retrospective Cohort Study
Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system, some which can become metastatic. It is a very rare disease and the tumours are often detected late.
- Conditions
- Paraganglioma, Pheochromocytoma, Genetic Predisposition to Disease, Pathology
- Trial name
- PPGL-Pred (NCT04788927)
- Where
- 2 sites in Denmark
- Volunteers
- 400 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
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
Cystic Fibrosis
A Study Evaluating the Long Term Safety and Efficacy of VX-659 Combination Therapy
This study will evaluate the long-term safety and tolerability of VX-659 in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are homozygous or heterozygous for the…
- Trial name
- NCT03447262
- Testing
- VX-659/TEZ/IVA, IVA
- Where
- 100 sites in United States, Australia and 9 more
- Volunteers
- 484 people
- Sponsor
- Vertex Pharmaceuticals Incorporated