Clinical trials: Genetic Variation
Hypochondroplasia
Open-Label, Long-Term, Extension Study of Infigratinib in Children With Hypochondroplasia
Phase 2, multicenter, OLE study to evaluate the long-term safety, tolerability, and efficacy of infigratinib, an FGFR (fibroblast growth factor receptor) 1-3-selective tyrosine kinase inhibitor, in participants with…
- Trial name
- NCT07393373
- Testing
- Infigratinib
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 135 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Hemophilia B
HOPE-B: Trial of AMT-061 in Severe or Moderately Severe Hemophilia B Patients
This is an open-label, single-dose, multi-center, multinational trial to demonstrate the efficacy of AMT-061 and to further describe its safety profile. The study drug is identified as AAV5-hFIXco-Padua (AMT- 061).
- Trial name
- NCT03569891
- Testing
- AAV5-hFIXco-Padua, Factor IX (FIX)
- Where
- 33 sites in United States, Belgium and 6 more
- Volunteers
- 67 people
- Sponsor
- CSL Behring
Neurologic Disorders, Nervous System Diseases
Neurologic Stem Cell Treatment Study
This is a human clinical study involving the isolation of autologous bone marrow derived stem cells (BMSC) and transfer to the vascular system and inferior 1/3 of the nasal passages in order to determine if such a treatment will…
- Conditions
- Neurologic Disorders, Nervous System Diseases, Neurodegenerative Diseases, Neurological Disorders
- Trial name
- NEST (NCT02795052)
- Testing
- Intravenous and Intranasal BMSC
- Where
- 3 sites in United States, United Arab Emirates
- Volunteers
- 500 people
- Sponsor
- MD Stem Cells
Dilated Cardiomyopathy (DCM)
A Phase 1 AAV Gene Therapy Trial Evaluating Safety and Preliminary Efficacy of RP-A701 in Subjects With BAG3 Dilated Cardiomyopathy
This is a Phase 1, open-label, dose-escalation trial to characterize the safety, tolerability, and preliminary efficacy of RP-A701 following a single IV administration in high-risk adult patients with BAG3-DCM.
- Trial name
- NCT07137338
- Testing
- RP-A701 is a recombinant viral vector composed of an AAV serotype rh.74 (AAVrh.74) capsid encapsulating the transgene, BCL2-associated Athanogene 3 (BAG3)
- Where
- 3 sites in United States
- Volunteers
- 8 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Hemophilia B
Dose Confirmation Trial of AAV5-hFIXco-Padua
This is an open-label, single-dose, single-arm, multi-center trial, with a screening, a treatment + post-treatment follow-up phase, and a long-term follow-up phase.
- Trial name
- NCT03489291
- Testing
- AAV5-hFIXco-Padua (AMT-061)
- Where
- 4 sites in United States
- Volunteers
- 3 people
- Sponsor
- CSL Behring
Hemophilia A, Hemophilia B
Study of FVIIa Variant BAY86-6150 (B0189) in Subjects With Moderate or Severe Hemophilia Types A or B With or Without Inhibitors
This is the first in humans study of BAY86-6150 (B0189) in non-bleeding subjects with moderate or severe congenital hemophilia A or B with or without inhibitors.
- Trial name
- MATCHBOX (NCT01921855)
- Testing
- BAY Factor VII (BAY86-6150)
- Where
- 4 sites in Poland, South Africa and 1 more
- Volunteers
- 16 people
- Sponsor
- Bayer
Hypophosphatasia
The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia in Russia
The effect of monoallelic variants in the ALPL gene on the natural course of hypophosphatasia (HPP) in children and adults in Russia (ATLANTIS)
- Trial name
- ATLANTIS (NCT07390240)
- Where
- 4 sites in Russia
- Volunteers
- 55 people
- Sponsor
- AstraZeneca
Genetic Forms of Extreme Obesity
The TEMPO (Tracing the Effect of the MC4 Pathway in Obesity) Registry
A voluntary prospective study that will allow registration and follow-up of individuals with MC4R pathway genetic obesity.
- Trial name
- NCT03479437
- Where
- 2 sites in United States, Canada
- Volunteers
- 303 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
G(M2) Ganglioside, Tay-Sachs Disease Ganglioside
A Phase I Study of Pyrimethamine in Patients With GM2 Gangliosidosis
Adult Tay-Sachs disease and Sandhoff diseases are caused by deficiency of an enzyme called β-hexosaminidase A, or Hex A in short.
- Conditions
- G(M2) Ganglioside, Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside
- Trial name
- NCT00679744
- Testing
- Pyrimethamine
- Where
- 3 sites in United States, Canada
- Sponsor
- Exsar Corporation
Hypohidrotic Ectodermal Dysplasia
Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation
This study in affected Hypohidrotic Ectodermal Dysplasia (HED) males and unaffected male controls, age 1 year and up, will use minimally invasive devices to image sweat ducts in intact skin, to measure stimulated sweat rate, and…
- Trial name
- NCT01386775
- Where
- United States
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Charcot Marie Tooth Disease (CMT), Neuromuscular Diseases (NMD)
Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
This is an 'N of 1', open-label, single center study to evaluate the safety of therapy with VCA-894A, an ASO designed to rescue and restore the activity of IGHMBP2, when administered by intrathecal injection.
- Trial name
- NCT07223632
- Testing
- VCA-894A
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Vanda Pharmaceuticals
Arrhythmogenic Cardiomyopathy, PKP2-ACM
A Study to Assess Real-world Patient Characteristics and Clinical Course for Symptomatic Patients With PKP2-ACM
An observational study to assess real-world patient characteristics and clinical course of disease in participants with PKP2-ACM.
- Conditions
- Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
- Trial name
- SNAPSHOT- PKP2 (NCT06976606)
- Where
- 6 sites in United States
- Volunteers
- 40 people
- Sponsor
- Lexeo Therapeutics
Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD)
KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
The KHENERFIN study aims to determine whether the study medicine, sonlicromanol, is able to reduce symptoms of fatigue and the impact of fatigue on daily life, and whether sonlicromanol is able to improve physical abilities of…
- Conditions
- Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS), Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
- Trial name
- KH176-301 (NCT06451757)
- Testing
- Sonlicromanol
- Where
- 10 sites in United States, Denmark and 5 more
- Volunteers
- 220 people
- Sponsor
- Khondrion BV
Bipolar Disorder
Utility of the Pharmacogenetic Information Provided by NEUROPHARMAGEN in the Treatment of Bipolar Depressionwith Bipolar Depression
Evaluation of the impact of the genetic variation of individual genes on the therapeutic response and side effects profile in a cohort of well-characterized patients with bipolar depression, using NEUROPHARMAGEN.
- Trial name
- NCT04923204
- Testing
- Pharmacogenomic-testing with NEUROPHARMAGEN
- Where
- Spain
- Volunteers
- 76 people
- Sponsor
- AB Biotics, SA
Cardiomyopathies, Heart Diseases
PKP2-ACM Natural History Study
The goal of this study is to describe the natural history and clinical events for patients who have Arrhythmogenic Cardiomyopathy with Pathogenic Plakophilin-2 Variants (PKP2-ACM) managed with standard of care.
- Conditions
- Cardiomyopathies, Heart Diseases, Cardiovascular Diseases, Genetic Diseases
- Trial name
- NCT06644742
- Where
- 3 sites in United States, Netherlands
- Volunteers
- 36 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Healthy
Study to Estimate How Common it is to Have Genetic Variants Associated With NAFLD
The purpose of this study is to estimate the prevalence of genetic variants associated with liver disease in participants who are known, or are likely to have NAFLD.
- Trial name
- NCT04494360
- Testing
- No intervention
- Where
- 3 sites in United States
- Volunteers
- 830 people, healthy volunteers welcome
- Sponsor
- Janssen Research & Development, LLC
Advanced Solid Tumor, Adult, ERBB2 Altered Breast Cancer
A Study of a Selective ERBB2 Inhibitor (CGT4255), in Patients With Advanced Solid Tumors
This is an open-label, phase 1/1b study evaluating the safety, tolerability, pharmacokinetic (what the body does to the drug), pharmacodynamic (what the drug does to the body), and antitumor activity of CGT4255 in adult…
- Conditions
- Advanced Solid Tumor, Adult, ERBB2 Altered Breast Cancer, ERBB2 Gene Amplification, HER2 Overexpression
- Trial name
- NCT07361562
- Testing
- CGT4255
- Where
- 15 sites in United States
- Volunteers
- 100 people
- Sponsor
- Cogent Biosciences, Inc.
Drug-Related Side Effects and Adverse Reactions, Treatment Failure
DOAC ADRs Retrospective Study on Genetic Variations
The purpose of this study is to see if the participant's genetic profile and clinical factors (age, drug dose, etc.) affect drug outcomes (i.e.
- Trial name
- DARES1 (NCT04580589)
- Where
- United States
- Volunteers
- 210 people, healthy volunteers welcome
- Sponsor
- Cipherome, Inc.
Hemophilia B
Phase 1/2 Dose Confirmation Study of FLT180a in Hemophilia B
Study of FLT180a gene therapy in adults with Hemophilia B. Up to 9 patients will be enrolled to receive a single dose of FLT180a and be followed for 52 weeks. Results will confirm the dose for a future Phase 3 study.
- Trial name
- NCT05164471
- Testing
- verbrinacogene setparvovec
- Where
- 7 sites in United States, United Kingdom
- Volunteers
- 6 people
- Sponsor
- Spur Therapeutics