Clinical trials: Genetic Disorder
DM1, Muscular Dystrophies
Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
AOC 1001-CS2 (MARINA-OLE) (NCT05479981) is a Phase 2 extension of the AOC 1001-CS1 (MARINA) (NCT05027269) study to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of multiple-doses of AOC 1001…
- Conditions
- DM1, Muscular Dystrophies, Myotonic Dystrophy, Myotonic Dystrophy 1
- Trial name
- MARINA-OLE (NCT05479981)
- Testing
- AOC 1001
- Where
- 8 sites in United States
- Volunteers
- 37 people
- Sponsor
- Avidity Biosciences, Inc.
Childhood Apraxia of Speech, Genetic Condition
Speech Therapy for Children With Rare Genetic Conditions and Childhood Apraxia of Speech
The goal of this trial is to learn if speech therapy can improve speech accuracy in children with rare genetic conditions and childhood apraxia of speech (CAS). This study will look at each child individually.
- Trial name
- NCT07815249
- Testing
- Rapid Syllable Transition Treatment, Dynamic Temporal and Tactile Cueing
- Where
- Australia
- Volunteers
- 20 people
- Sponsor
- Murdoch Childrens Research Institute
Evaluation of Mainstreamed Models of Genetic Service Delivery, Genetic Disease
Implementation-effectiveness Trial of Mainstreaming of Clinical Genomic Sequencing for Rare Disease in Ontario, Canada
Genomic sequencing (GS) is increasingly recommended as a diagnostic test for patients with suspected genetic disorders, but access often remains limited to those referred to medical geneticists.
- Conditions
- Evaluation of Mainstreamed Models of Genetic Service Delivery, Genetic Disease, Neurodevelomental Disorders
- Trial name
- NCT07799792
- Testing
- Genome-wide Sequencing Ordering
- Volunteers
- 100 people
- Sponsor
- The Hospital for Sick Children
Congenital Anomalies, Mendelian Disorders
Evaluating Prenatal Exome Sequencing Study
This study evaluates the impact of the various outcomes of pES (definitive diagnosis, probable diagnosis and IF) on clinical decision making and on parental psychological wellbeing, compared between different analysis strategies…
- Conditions
- Congenital Anomalies, Mendelian Disorders, Genetic Diseases, Inborn
- Trial name
- EPES (NCT05290701)
- Where
- Netherlands
- Volunteers
- 235 people
- Sponsor
- Leiden University Medical Center
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)
This LTFU is being conducted to assess long-term safety and durability of response in participants dosed with IP in a parent protocol, and to collect longitudinal natural history in enrolled but not dosed participants who also…
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Urea Cycle Disorders, Inborn
- Trial name
- NCT06805695
- Testing
- No Intervention
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 13 people
- Sponsor
- iECURE, Inc.
Genetic Diseases, Genetic Disorders
The Genetics Update
Genomic sequencing (GS) can reveal thousands of genetic variants in each patient. As our understanding of these variants evolves, some may be reclassified, which could have significant implications for a patient's health.
- Conditions
- Genetic Diseases, Genetic Disorders, Cancer
- Trial name
- NCT07795879
- Testing
- Genetics Update Platform plus standard genetic counselling, Standard Genetic Counselling
- Where
- 2 sites in Canada
- Volunteers
- 170 people
- Sponsor
- Unity Health Toronto
Muscular Dystrophies, Muscular Dystrophy, Duchenne
A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
HOPE-3 is a two cohort, Phase 3, multi-center, randomized, double-blind, placebo-controlled clinical trial evaluating the efficacy and safety of a cell therapy called deramiocel (CAP-1002) in study participants with Duchenne…
- Conditions
- Muscular Dystrophies, Muscular Dystrophy, Duchenne, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- HOPE-3 (NCT05126758)
- Testing
- Deramiocel (CAP-1002)
- Where
- 20 sites in United States
- Volunteers
- 106 people
- Sponsor
- Capricor Inc.
X-linked Adrenoleukodystrophy
Quality of Life in Women With X-linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is a hereditary white matter disorder caused by mutations in the ABCD1 gene leading to disturbances in the metabolism of fatty acids.
- Trial name
- X-ALD_QoL (NCT04675749)
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Leipzig University Medical Center
Myotonic Dystrophy Type 1 (DM1)
A Phase 1/2 Study of VX-670 in Adult Participants With Myotonic Dystrophy 1 (DM1)
The purpose of the study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of VX-670 at different single and multiple doses in participants with DM1.
- Trial name
- Galileo (NCT06185764)
- Testing
- VX-670
- Where
- 26 sites in United States, Australia and 8 more
- Volunteers
- 47 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Rett Syndrome
Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome
The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.
- Trial name
- ASPIRE (NCT07480564)
- Testing
- TSHA-102
- Where
- 3 sites in United States
- Volunteers
- 4 people
- Sponsor
- Taysha Gene Therapies, Inc.
Cornelia de Lange Syndrome
Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome
This research project is a randomized cross-over pilot trial which aims to test the efficacy of N-acetylcysteine (NAC) for the treatment of Repetitive Behaviors (RB) and self-injurious behavior (SIB) in patients with Cornelia de…
- Trial name
- NCT04381897
- Testing
- N-acetyl cysteine
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Johns Hopkins University
Parkinson, Parkinson Disease
Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers
Every year, approximately 9,000 Parkinson disease (PD) patients undergo deep brain stimulator (DBS) placement into the subthalamic nucleus (STN-DBS).
- Conditions
- Parkinson, Parkinson Disease, Genetic Predisposition, GBA Gene Mutation
- Trial name
- NCT03234478
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Rutgers, The State University of New Jersey
Fragile X Syndrome (FXS), Fragile X Syndrome
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.
- Trial name
- FXS-CTH120-01 (NCT07654114)
- Testing
- CTH120
- Where
- 2 sites in Spain
- Volunteers
- 30 people
- Sponsor
- Connecta Therapeutics, S.L.
Optic Neuritis, Multiple Sclerosis
Early Prediction of Outcomes Following Optic Neuritis: Development and Acceptability of a Prognostic Tool
The goal of this observational study is to determine whether genetic information, together with clinical information, can be used to improve prediction of future multiple sclerosis (MS) diagnosis after a first-time episode of…
- Conditions
- Optic Neuritis, Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder, Myelin Oligodendrocyte Glycoprotein (MOG)-Antibody Related Disorders
- Trial name
- MS Predictor (NCT07704294)
- Testing
- No Intervention: Observational Cohort
- Where
- 3 sites in United Kingdom
- Volunteers
- 180 people
- Sponsor
- King's College London
Nonimmune Fetal Hydrops, Nonimmune Hydrops in Neonate
Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops
Brief Summary: Nonimmune hydrops fetalis (NIHF) is a potentially fatal condition characterized by abnormal fluid accumulation in two or more fetal compartments.
- Conditions
- Nonimmune Fetal Hydrops, Nonimmune Hydrops in Neonate, Genetic Disorders
- Trial name
- NCT03911531
- Testing
- Whole Exome Sequencing, Whole Genome Sequencing
- Where
- United States
- Volunteers
- 55 people
- Sponsor
- Thomas Jefferson University
Hemophilia A With Inhibitor, Hemophilia A With Anti Factor VIII
Safety, Tolerability, and Efficacy Study of Valoctocogene Roxaparvovec in Hemophilia A With Active or Prior Inhibitors
This Phase I/II clinical study will evaluate the safety and efficacy of valoctocogene roxaparvovec in patients with severe haemophilia A and inhibitors to FVIII.
- Trial name
- GENEr8-INH (NCT04684940)
- Testing
- Valoctocogene roxaparvovec
- Where
- 9 sites in United States, Brazil and 5 more
- Volunteers
- 10 people
- Sponsor
- BioMarin Pharmaceutical
Obesity (Disorder), Anti-obesity Agents
Precision Obesity Medicine: Genetic Prediction of Response to GLP-1/GIP Agonists.
Obesity is a chronic multifactorial disease with a strong genetic component. Although glucagon-like peptide-1 (GLP-1) receptor agonists such as semaglutide and dual glucose-dependent insulinotropic polypeptide (GIP)/GLP-1…
- Conditions
- Obesity (Disorder), Anti-obesity Agents, Precision Medicine
- Trial name
- Diagenix (NCT07653412)
- Testing
- Semaglutide or Tirzepatide
- Where
- Greece
- Volunteers
- 220 people
- Sponsor
- National and Kapodistrian University of Athens
Rett Syndrome
A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)
The primary objectives of this study are to evaluate the safety of a single intrathecal (IT) dose of TSHA-102 in females with typical Rett syndrome, to select the TSHA-102 dose with the best benefit/risk profile based on the…
- Trial name
- NCT05606614
- Testing
- TSHA-102
- Where
- 9 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Taysha Gene Therapies, Inc.
Rett Syndrome, Rett Syndrome, Atypical
Rett Syndrome Registry
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome.
- Conditions
- Rett Syndrome, Rett Syndrome, Atypical, Genetic Disease, Genetic Diseases, X-Linked
- Trial name
- RSR (NCT05432349)
- Where
- 19 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- International Rett Syndrome Foundation
Pediatric Disorder, Genetic Predisposition
Pharmacogenomic Contributions to Trihexyphenidyl Biotransformation and Response in Children With Dystonic Cerebral Palsy
This study looks at how a medicine called trihexyphenidyl works in children with dystonic cerebral palsy. The study aims to understand how trihexyphenidyl is broken down and used in the body of pediatric patients and whether this…
- Conditions
- Pediatric Disorder, Genetic Predisposition, Dystonia, Secondary, Dystonia
- Trial name
- TRIKE2 (NCT06554288)
- Testing
- Trihexyphenidyl
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Children's Mercy Hospital Kansas City