Clinical trials: Genetic Association Studies
Pregnancy Related, Cystic Fibrosis
Prospective Study of Pregnancy in Women With Cystic Fibrosis
In this study, the investigators aim to evaluate changes in lung function in women with cystic fibrosis (CF) during pregnancy and for 2 years after pregnancy based on exposure to highly effective cystic fibrosis transmembrane…
- Trial name
- MAYFLOWERS (NCT04828382)
- Where
- 40 sites in United States
- Volunteers
- 285 people
- Sponsor
- Amalia Magaret
Crohn's Disease, Genetic Predisposition
Abnormal Fecal Microbiota in Healthy Subjects at High Risk for Crohn's Disease
Transversal multicentric French study on the microbiota in patients with Crohn's disease and their first degree healthy relatives The primary objective is the comparison of microbiota between patients with CD, healthy controls…
- Trial name
- MAGIC (NCT02826330)
- Testing
- biomarkers
- Where
- 10 sites in France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
Limb Girdle Muscular Dystrophy, Type 2I, Limb Girdle Muscular Dystrophy
Limb-Girdle Muscular Dystrophy Type 2I in Norway
Key goals are to establish the natural history of limb-girdle muscular dystrophy type 2I (LGMD 2I) and identify feasible and sensitive tools and biomarkers to measure disease affection and progression, determine the Norwegian…
- Conditions
- Limb Girdle Muscular Dystrophy, Type 2I, Limb Girdle Muscular Dystrophy, Muscular Dystrophies, Limb Girdle Muscular Dystrophy R9 FKRP-related
- Trial name
- NCT03930628
- Where
- Norway
- Volunteers
- 106 people
- Sponsor
- University Hospital of North Norway
Brugada Syndrome (BrS), Ventricular Arrhythmia
Prospective Multicentre Observational Registry of Peri-procedural Anaesthesia, Sedation and Related Medication Exposure in Patients With Brugada Syndrome
The goal of this observational study is to evaluate the perioperative risk of malignant ventricular arrhythmias in adult patients diagnosed with Brugada Syndrome undergoing anaesthetic procedures.
- Conditions
- Brugada Syndrome (BrS), Ventricular Arrhythmia, Anesthesia, Sedation
- Trial name
- PROSP_BRUGANAE (NCT07655102)
- Where
- Spain
- Volunteers
- 200 people
- Sponsor
- Hospital Clinic of Barcelona
Rolandic Epilepsy
Rolandic Epilepsy Genomewide Association International Study
We have discovered a small change in the genetic code which increases the risk of the brainwave abnormality that is found in rolandic epilepsy. We now wish to confirm this using a second much larger sample of patients.
- Trial name
- REGAIN (NCT03547050)
- Testing
- Blood draw, Existing samples
- Where
- 13 sites in United States, Argentina and 5 more
- Volunteers
- 210 people
- Sponsor
- King's College London
PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome (PS)
A Study of the Safety and Tolerability in Participants With PIK3CA-related Overgrowth Spectrum or Proteus Syndrome Who Are Being Treated With Miransertib (MK-7075) in Other Studies (MK-7075-006)
This is a study of the safety and tolerability of oral miransertib (MK-7075) administered to participants at least 2 years of age with phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related…
- Trial name
- NCT04980872
- Testing
- Miransertib
- Where
- 11 sites in United States, Australia and 3 more
- Volunteers
- 60 people
- Sponsor
- Merck Sharp & Dohme LLC
16P11.2 Deletion Syndrome, 16p11.2 Duplications
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism.
- Conditions
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder)
- Trial name
- NCT01238250
- Where
- 2 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Simons Searchlight
Schizophrenia
A Neurobiological Study on Heterogeneity of Schizophrenia: Genetic Variations and Neurobiological Differentiations
Schizophrenia (SCH) is a devastating brain disorder with grave personal, family and social cost. SCH is a complex and heterogeneous (both genetic and clinical) disorder with oligogenetic endowed vulnerability risk of disease…
- Trial name
- SONPOS (NCT01075373)
- Where
- Taiwan
- Volunteers
- 360 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Neurofibromatosis 2
Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients
The purpose of the study is to determine if RAD001 treatment will shrink or slow the growth of the vestibular schwannoma(s) in Neurofibromatosis 2 (NF2) patients.
- Trial name
- AFINF2 (NCT01490476)
- Testing
- RAD001
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Systemic Lupus Erythematosus
Web-based Genetic Research on Lupus
The goal of this new lupus research study is two-fold: first, to understand the genetic associations found between people's DNA and this disease, and second, to apply this understanding to drug development efforts with the…
- Trial name
- NCT02530944
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- 23andMe, Inc.
Mitochondrial Myopathy, MELAS Syndrome
Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia
OBJECTIVES: I. Study the metabolism of pyruvate and related problems in patients with lactic acidemia. II. Define the nature of the metabolic defect.
- Conditions
- Mitochondrial Myopathy, MELAS Syndrome, Lactic Acidosis
- Trial name
- NCT00004353
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Center for Research Resources (NCRR)
Genetic Disease, TUBB4A-Related Leukodystrophy
An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy
This current study is aimed for the treatment of an individual participant with a form of TUBB4A-related leukodystrophy with hypomyelination.
- Trial name
- ASOTUBB4A (NCT07222371)
- Testing
- nL-TUBB4-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of California, San Diego
Sickle Cell Disease, Pregnancy Related
LEARNER- Low dosE AspiRiN prEterm tRial (Angola)
This study is being conducted to evaluate the safety and effect of starting daily use of low dose (100 mg) aspirin in pregnant women with sickle cell disease, who are being followed in two county hospitals in Angola, in the first…
- Conditions
- Sickle Cell Disease, Pregnancy Related, Pregnancy Complications, Pre-Eclampsia
- Trial name
- LEARNER (NCT06417411)
- Testing
- Aspirin 100mg
- Where
- Angola
- Volunteers
- 450 people
- Sponsor
- Instituto Nacional de Investigacao em Saude, Angola
Chediak-Higashi Syndrome, Graft Versus Host Disease
Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders
OBJECTIVES: I. Determine the efficacy of unrelated donor hematopoietic stem cell transplantation in the treatment of patients with life threatening hemophagocytic disorders. II.
- Conditions
- Chediak-Higashi Syndrome, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis
- Trial name
- NCT00006056
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Fairview University Medical Center
Neurofibromatosis Type 1
A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas
Treatment Overview This phase II study will evaluate the activity of sirolimus in children and adults with NF1 and inoperable plexiform neurofibromas that have the potential to cause significant morbidity.
- Trial name
- Protocol 102 (NCT00634270)
- Testing
- Sirolimus
- Where
- 9 sites in United States
- Volunteers
- 58 people
- Sponsor
- University of Alabama at Birmingham
Hereditary Angioedemas
A Study Investigating the Effectiveness and Safety of Garadacimab for Treating Patients With Hereditary Angioedema (HAE)
This is a multinational, multicenter, prospective, observational cohort study of patients with HAE in the real-world setting. The study will include patients newly initiating garadacimab in routine clinical practice.
- Trial name
- GREAT (NCT07001280)
- Testing
- No intervention
- Where
- 22 sites in United States, Austria and 3 more
- Volunteers
- 200 people
- Sponsor
- CSL Behring
Neurodegenerative Disease, Hereditary, Mitochondrial Diseases
Natural History Study of SLC25A46 Mutation-related Mitochondriopathy
The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the solute carrier family 25…
- Conditions
- Neurodegenerative Disease, Hereditary, Mitochondrial Diseases, Optic Atrophy
- Trial name
- NCT04594590
- Testing
- Mutation analysis
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- State University of New York at Buffalo
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
Neurodegenerative Disease, Hereditary, Mitochondrial Diseases
Natural History Study of FDXR Mutation-related Mitochondriopathy
The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the ferredoxin reductase gene.
- Conditions
- Neurodegenerative Disease, Hereditary, Mitochondrial Diseases, Optic Atrophy
- Trial name
- NCT04580979
- Testing
- Mutation analysis
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- State University of New York at Buffalo
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