Clinical trials: Genetic Conditions
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Huntington's Disease
Open Label Extension Study To Investigate Long Term Safety, Tolerability And Efficacy Of Pf-02545920 In Subjects With Huntington's Disease Who Completed Study A8241021
This study is a 12 month open label extension study of PF-02545920 20 mg dosed BID following study A8241021 in subjects with HD. Primary endpoints will be to assess long-term safety and tolerability of 20 mg BID of PF-02545920.
- Trial name
- NCT02342548
- Testing
- 20 mg BID of PF-02545920
- Where
- 50 sites in United States, Canada and 3 more
- Volunteers
- 188 people
- Sponsor
- Pfizer
Systemic Lupus Erythematosus, Inflammatory Myopathy
BCMA-CD19 CAR-T Therapy for Refractory Autoimmune Diseases
The objective of this study is to evaluate the efficacy and safety of BCMA/CD19 chimeric antigen receptor (CAR)-modified T cells in the treatment of autoimmune diseases.
- Conditions
- Systemic Lupus Erythematosus, Inflammatory Myopathy, Systemic Sclerosis (SSc), ANCA-associated Vasculitis
- Trial name
- NCT06794008
- Testing
- BCMA-CD19 CAR-T therapy
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Peking University People's Hospital
Coronary Artery Disease, Genetic Predisposition to Disease
Genetic Risk Stratification for Primary Prevention of CAD in Men and Pre & Post-menopausal Women
The investigators propose to genotype males and females at age 40 years and older, who are asymptomatic and without known heart disease (N=2000).
- Trial name
- NCT05169840
- Testing
- Genetic Risk Score for Coronary Artery Disease
- Where
- 3 sites in United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- St. Joseph's Hospital and Medical Center, Phoenix
Rotavirus, Diarrhea
Response to Rotavirus Vaccine in Infants in Ho Chi Minh City in Vietnam
The primary objective is to measure the effect of host human genetics on the resulting immunological responses and long-term protection following rotavirus immunization of a study population of infants in Ho Chi Minh City…
- Trial name
- NCT03587389
- Testing
- Rotarix vaccine
- Where
- Vietnam
- Volunteers
- 818 people, healthy volunteers welcome
- Sponsor
- Oxford University Clinical Research Unit, Vietnam
Myotonic Dystrophy, Congenital, Myotonic Dystrophy, Type 1 (DM1)
Music Intervention for Brain-Heart Disease in Myotonic Dystrophy Type 1 (DM1)
The goal of this interventional study is to demonstrate the feasibility and tolerability of music and movement intervention for children with congenital DM1, while providing indications of its effectiveness in improving brain and…
- Conditions
- Myotonic Dystrophy, Congenital, Myotonic Dystrophy, Type 1 (DM1), Myotonic Dystrophy Type 1, Myotonic Dystrophy Type 1 (DM1)
- Trial name
- NCT06809049
- Testing
- Music and movement education
- Where
- Canada
- Volunteers
- 13 people
- Sponsor
- Hanns Lochmuller
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Hereditary Ataxia, Spinocerebellar Degenerations
Core Stability Exercises and Hereditary Ataxia
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and balance impairments in sitting and standing.
- Conditions
- Hereditary Ataxia, Spinocerebellar Degenerations, Cerebellar Ataxia
- Trial name
- Core-ataxia (NCT04750850)
- Testing
- Therapeutic core stability exercises, Usual care
- Where
- Spain
- Volunteers
- 20 people
- Sponsor
- Universitat Internacional de Catalunya
Awareness, Anesthesia, Recall Phenomenon
Awareness in Old Aged Patients During Laryngoscopy and Intubation Using Isolated Forearm Technique
Awareness during general anesthesia - that has an incidence between 0.1% and 0.9% of cases and may be more in elderly - remains a concern for anesthesiologists.
- Conditions
- Awareness, Anesthesia, Recall Phenomenon, Inhalation; Gas
- Trial name
- NCT05019560
- Testing
- Sevoflurane, TIVA
- Where
- Egypt
- Volunteers
- 50 people
- Sponsor
- Ain Shams University
Coronary Heart Disease
Rapid Engagement for Solutions to Population and Outcomes Through Networked Dialogue for Coronary Heart Disease
Cardiometabolic diseases are major causes of morbidity and mortality in the state of Wisconsin and are expected to pose an increasing burden over the next few decades.
- Trial name
- RESPOND (NCT07260552)
- Testing
- Polygenic risk score
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Medical College of Wisconsin
Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease
Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
This study evaluates the efficacy of rifampin in the treatment of hypercalcemia and/or hypercalciuria in participants with at least one inactivating mutation of the CYP24A1 gene.
- Conditions
- Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease, Hypercalcemia, Idiopathic, of Infancy, Hypercalciuric Hypercalcemia
- Trial name
- RICHH (NCT03301038)
- Testing
- Rifampin
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Children's Hospital of Philadelphia
Wilms Tumor, Relapse
The Use of Immunohistochemical Staining for the Prediction of Wilms Tumour Progression and Recurrence
Wilms' tumour staging and grading are used to give an idea about the prognosis. Advanced staging, diffuse anaplasia, predominant blastemal elements and lymph node invasion are indicators of poor prognosis.
- Conditions
- Wilms Tumor, Relapse, Death
- Trial name
- NCT04758455
- Testing
- P53, Ki67 and Cyclin A IHC.
- Where
- Egypt
- Volunteers
- 75 people
- Sponsor
- Mansoura University
Hemophilia A, Hemophilia B
Gaining Insight Into the Complexity of Pain in Patients With Haemophilia
Joint pain has been reported as a major problem in people with haemophilia (PwH). Therefore, haemophilia in adults seems clinically more related to a musculoskeletal disorder than a bleeding disorder, with many patients reporting…
- Trial name
- NCT05606640
- Testing
- Biopsychological pain assessment
- Where
- 2 sites in Belgium
- Volunteers
- 104 people, healthy volunteers welcome
- Sponsor
- Universiteit Antwerpen
Disorder of Sex Development, Intersex Conditions
Decision Support for Parents Receiving Information About Child's Rare Disease
The birth of a child with a disorder of sex development (DSD) is stressful for parents and members of the healthcare team. The "right" decisions about gender assignment (is it a boy? a girl?) and the best course of action (e.g.…
- Conditions
- Disorder of Sex Development, Intersex Conditions, Congenital Adrenal Hyperplasia, Hypospadias
- Trial name
- DSD DST (NCT01875640)
- Where
- 4 sites in United States
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Chronic Myelomonocytic Leukemia, Chronic Myelomonocytic Leukemia-1
Azacitidine With or Without Lenalidomide or Vorinostat in Treating Patients With Higher-Risk Myelodysplastic Syndromes or Chronic Myelomonocytic Leukemia
This randomized phase II/III trial studies how well azacitidine works with or without lenalidomide or vorinostat in treating patients with higher-risk myelodysplastic syndromes or chronic myelomonocytic leukemia.
- Conditions
- Chronic Myelomonocytic Leukemia, Chronic Myelomonocytic Leukemia-1, Chronic Myelomonocytic Leukemia-2, Myelodysplastic Syndrome
- Trial name
- NCT01522976
- Testing
- Azacitidine, Laboratory Biomarker Analysis, Lenalidomide
- Where
- 294 sites in United States, Canada
- Volunteers
- 282 people
- Sponsor
- National Cancer Institute (NCI)
Sickle Cell Disease
Sickle Cell Pro-Inflammatory Response to Interval Training Study
Recommendations for exercise prescription currently do not exist for individuals with sickle cell anemia (SCA) despite the known impact that SCA-related complications has on physical functioning and fitness.
- Trial name
- SPRINTS (NCT03653676)
- Testing
- Exercise Test (CIIT)
- Where
- 3 sites in United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Ann & Robert H Lurie Children's Hospital of Chicago
Cellulite
Treatment for Cellulite Appearance
Open-label, non-randomized, prospective, multi-center, self-controlled clinical study with masked evaluation.
- Trial name
- NCT05358847
- Testing
- Sofwave
- Where
- 4 sites in United States
- Volunteers
- 69 people, healthy volunteers welcome
- Sponsor
- Sofwave Medical LTD
Thrombocytopenia, Metachromatic Leukodystrophy
Stem Cell Transplantation (SCT) for Genetic Diseases
OBJECTIVES: I. Ascertain whether stem cell transplantation (SCT) is an effective method by which missing or dysfunctional enzymes can be replaced in patients with various inborn errors of metabolism. II.
- Conditions
- Thrombocytopenia, Metachromatic Leukodystrophy, Fanconi's Anemia, Thalassemia Major
- Trial name
- NCT00004378
- Testing
- Stem Cell Transplantation
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
Attention Deficit Disorder With Hyperactivity, Asthma
Study of an Intervention to Improve Problem List Accuracy and Use
The aim of this study is to identify patients with problem list gaps and intervene to correct these gaps by creating clinical decision support interventions that alert providers to likely problem list gaps and offer clinicians…
- Conditions
- Attention Deficit Disorder With Hyperactivity, Asthma, COPD, Breast Cancer
- Trial name
- MAPLE (NCT01105923)
- Testing
- MAPLE
- Where
- United States
- Volunteers
- 140 people
- Sponsor
- Brigham and Women's Hospital
Cryopyrin-Associated Periodic Syndrome
Study of ATI-450 in Patients With Cryopyrin-Associated Periodic Syndrome (CAPS)
This is a Phase 2 study to investigate the safety and efficacy of ATI-450 for the Maintenance of Remission in Patients with Cryopyrin-Associated Periodic Syndrome (CAPS) Previously Managed with Anti-IL-1 Therapy.
- Trial name
- NCT04524858
- Testing
- ATI-450
- Where
- 2 sites in United States
- Volunteers
- 1 people
- Sponsor
- Aclaris Therapeutics, Inc.
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