Clinical trials: Genetic Variation
- Condition Genetic Variation
- Funder type Industry (pharma, biotech, devices)
- Age group Children (under 18)
Mucopolysaccharidosis IH
Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant
This is a phase I/II study evaluating safety and efficacy of autologous hematopoietic stem and progenitor cells genetically modified with IDUA lentiviral vector encoding for the human α-L-iduronidase gene for the treatment of…
- Trial name
- TigetT10_MPSIH (NCT03488394)
- Testing
- Frozen autologous CD34+ hematopoietic stem and progenitor cells genetically modified with the lentiviral vector IDUA LVV, encoding for the α-L-iduronidase cDNA, in their final formulation medium.
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Orchard Therapeutics
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.
Friedreich Ataxia
A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia
To test the variability of specific ribonucleic acid (RNA) and proteins as well as frataxin levels in samples of blood and buccal cells taken directly from patients with Friedreich's ataxia (FRDA) in order to confirm potential…
- Trial name
- NCT04255680
- Testing
- Buccal Swabs and Blood Draws
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Larimar Therapeutics, Inc.
Developmental Disability, Intellectual Disability
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system.
- Conditions
- Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly
- Trial name
- NCT05295277
- Testing
- Standard of care genetic testing group
- Where
- 8 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Bionano Genomics
Pediatric SDLT CNS Disorders
Investigation of Individualised Antisense Oligonucleotides (ASOs) in People With Unique Genetic Variants Causing Severely Debilitating, Life Threatening (SDLT) Central Nervous System (CNS) Conditions
This study is being conducted to evaluate individualised antisense oligonucleotides (ASOs) in participants with severely debilitating, life threatening (SDLT) central nervous system (CNS) conditions caused by unique genetic…
- Trial name
- EOM-MP1 (NCT07410143)
- Testing
- Individualized ASO
- Where
- United Kingdom
- Volunteers
- 1 people
- Sponsor
- EveryONE Medicines Inc.
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
Focal Segmental Glomerulosclerosis
A Study to Find Out if BI 764198 Helps Adults and Adolescents With a Kidney Condition Called Focal Segmental Glomerulosclerosis (FSGS)
PODOMOUNT-pFSGS This study is open to adults and adolescents with a kidney condition called focal segmental glomerulosclerosis (FSGS).
- Trial name
- NCT07220083
- Testing
- BI 764198
- Where
- 316 sites in United States, Argentina and 38 more
- Volunteers
- 286 people
- Sponsor
- Boehringer Ingelheim
Fabry Disease
Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease
This is a long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants
- Trial name
- NCT04049760
- Testing
- migalastat HCl 150 mg
- Where
- 6 sites in United States, United Kingdom
- Volunteers
- 16 people
- Sponsor
- Amicus Therapeutics
DAO Genetic Variants
Prevalence of DAO (diamino Oxidase) Deficiency in Newborns
Observational study to estimate the prevalence of genetic DAO deficiency in the population.
- Trial name
- DAO-NEO-2022 (NCT06710366)
- Where
- Spain
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- AB Biotek
Retinitis Pigmentosa
A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
The purpose of the study is to assess the safety and tolerability of bilateral subretinal delivery of adeno-associated virus vector with a serotype 5 capsid human rhodopsin kinase promoter.
- Trial name
- NCT05926583
- Testing
- AAV5-hRKp.RPGR
- Where
- Japan
- Volunteers
- 4 people
- Sponsor
- MeiraGTx Ocular UK Ltd
Lipodystrophy, Generalized Lipodystrophy (GLD)
Compassionate Use or Expanded Access of Mibavademab
Provide Expanded Access to REGN4461 for patients with diseases associated with deficient leptin signaling.
- Conditions
- Lipodystrophy, Generalized Lipodystrophy (GLD), Monogenic Obesity (MOB)
- Trial name
- NCT04710056
- Testing
- REGN4461
- Sponsor
- Regeneron Pharmaceuticals
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
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Polycystic Kidney Disease 1 (PKD1) Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease
The purpose of this study is to estimate the prevalence, demographic, and clinical characteristics of PKD1/2 gene variant groups in the ADPKD population.
- Trial name
- NCT06747572
- Where
- 45 sites in United States, Belgium and 7 more
- Volunteers
- 401 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Genetic Obesity
DAYBREAK: A Study of Setmelanotide in Participants With Specific Gene Variants in the Melanocortin-4 Receptor (MC4R) Pathway
The purpose of this study was to evaluate the safety and efficacy of once daily subcutaneous (SC) administration of setmelanotide in participants with obesity and specific gene variants in the MC4R pathway.
- Trial name
- NCT04963231
- Testing
- Setmelanotide
- Where
- 36 sites in United States, Canada and 6 more
- Volunteers
- 164 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
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
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
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.
Congenital Sucrase-isomaltase Deficiency (CSID)
Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Congenital sucrose-isomaltase deficiency (CSID) is a rare, genetic disease in which mutations in the sucrose-isomaltase (SI) gene cause digestion problems of sucrose resulting in diarrhea and abdominal pain.
- Trial name
- CSID GPS (NCT01914003)
- Where
- 19 sites in United States
- Volunteers
- 53 people
- Sponsor
- QOL Medical, LLC
GM1 Gangliosidosis, GM2 Gangliosidosis
Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2).
- Conditions
- GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease
- Trial name
- RETRIEVE (NCT04470713)
- Where
- 17 sites in United States, Belgium and 8 more
- Volunteers
- 226 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.
Fabry Disease
A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
An open-label study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of migalastat treatment in pediatric subjects 2 to < 12 years of age with Fabry disease and with amenable GLA variants.
- Trial name
- NCT06904261
- Testing
- Migalastat HCl 20 mg
- Where
- 12 sites in United States, Belgium and 4 more
- Volunteers
- 8 people
- Sponsor
- Amicus Therapeutics