Clinical trials: Autosomal Recessive Disorder, open to volunteers
Otoferlin Gene-mediated Hearing Loss
Long Term Follow-up Study of AAVAnc80-hOTOF Gene Therapy
This multi-center, observational, post-intervention long term follow-up (LTFU) study will monitor for safety and efficacy of AAVAnc80-hOTOF in individuals with sensorineural hearing loss due to otoferlin gene mutations who have…
- Trial name
- NCT06696456
- Where
- 5 sites in United States, Spain and 1 more
- Volunteers
- 30 people
- Sponsor
- Eli Lilly and Company
COPD
Effects of Manual Positive End Expiratory Pressure and Non-invasive Continuous Positive Air Pressure in COPD Patients
This randomized clinical trial aims to compare the effectiveness of Manual Positive End Expiratory Pressure (PEEP) and Non-Invasive Continuous Positive Airway Pressure (CPAP) in patients with Chronic Obstructive Pulmonary Disease…
- Trial name
- NCT07079527
- Testing
- Manual Positive End Expiratory Pressure (PEEP) Therapy, Non-Invasive CPAP Therapy
- Where
- Pakistan
- Volunteers
- 42 people
- Sponsor
- Riphah International University
Chronic Granulomatous Disease, Granulomatous Disease, Chronic
A Study of the Safety and Efficacy of Prime Editing (PM359) in Participants With p47phox Autosomal Recessive Chronic Granulomatous Disease (CGD )
This is an open-label, single-arm, multicenter Phase 1/2 study evaluating the safety and efficacy of gene therapy by transplantation of Prime Edited autologous CD34+ stem cells modified ex vivo (PM359) in participants with…
- Trial name
- NCT06559176
- Testing
- PM359
- Where
- 5 sites in United States, Canada and 1 more
- Volunteers
- 12 people
- Sponsor
- Prime Medicine, Inc.
Erectile Dysfunction Due to Arterial Insufficiency, Erectile Dysfunction
Efficacy of Low-intensity Shockwave vs Radial Wave for Treatment of Erectile Dysfunction and Pelvic Pain
The purpose of this study to perform a randomized, sham controlled analysis of the effectiveness of both fSWT and rWT in the relief of erectile dysfunction and chronic pelvic pain syndrome.
- Conditions
- Erectile Dysfunction Due to Arterial Insufficiency, Erectile Dysfunction, Erectile Dysfunction Due to Arterial Disease, Chronic Pelvic Pain Syndrome
- Trial name
- Shockwave (NCT05868668)
- Testing
- Focused shockwave, Radial wave
- Where
- United States
- Volunteers
- 186 people
- Sponsor
- The Cleveland Clinic
Stargardt Disease
Study of ALK-001 on the Progression of Stargardt Disease
This study evaluates the efficacy and safety of investigational study drug ALK-001 in participants 8 to 45 years of age, inclusive, with symptoms and signs of autosomal recessive Stargardt disease (STGD)
- Trial name
- NORTHSTAR (NCT07419334)
- Testing
- ALK-001
- Where
- 14 sites in United States
- Volunteers
- 230 people
- Sponsor
- Alkeus Pharmaceuticals, Inc.
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
Atrial Fibrillation, Cardiovascular Diseases
LAAC-registry: Clinical Outcome After Echocardiography-guided LAA-closure
The study aims at comparing, in a large cohort of consecutive clinically indicated left atrial appendage closure, clinical and imaging outcomes between different subpopulations.
- Conditions
- Atrial Fibrillation, Cardiovascular Diseases, Thromboembolism
- Trial name
- NCT04628078
- Testing
- Use of echocardiography guidance for LAAC
- Where
- Switzerland
- Volunteers
- 1,000 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Chronic Granulomatous Disease (CGD)
Prevalence of Antibodies and Cytokines in Participants With Chronic Granulomatous Disease
This research study is designed to assess the prevalence of specific antibodies and inflammatory cytokines in adult and pediatric participants with CGD.
- Trial name
- NCT06605378
- Where
- 52 sites in United States, United Kingdom
- Volunteers
- 60 people
- Sponsor
- Ensoma
Breast Cancer Early Stage Breast Cancer (Stage 1-3)
Continuous Positive Airway Pressure (CPAP) Assisted Radiotherapy in Breast Cancer
This study is a prospective, non-randomized clinical study aimed at investigating the potential benefits of continuous positive airway pressure (CPAP) support during radiotherapy for breast cancer.
- Trial name
- NCT07373782
- Testing
- Continuous Positive Airway Pressure (CPAP)
- Where
- Belgium
- Volunteers
- 53 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Osteopetrosis
Gene-Modified Stem Cell Therapy for Children With Autosomal Recessive Osteopetrosis (ARO)
This is a non-randomized, one-arm, open label, single-center, phase I/II, prospective study, to assess safety, feasibility and efficacy of FT024 in 8 children (Age: ≥ 28 days and ≤ 2 years old, Body weight: ≥ 4 kg) affected by…
- Trial name
- ARO (NCT07665021)
- Testing
- FT024
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Fondazione Telethon
Parkinson's Disease (PD), Parkinson Disease 6, Early-Onset
Phase Ⅲ Clinical Trial to Evaluate the Efficacy and Safety of TJ0113 Capsules in Patients With Early-Onset Parkinson's Disease
This study is a randomized, double-blind, multicenter, placebo-controlled Phase III clinical trial designed to evaluate the efficacy, safety, and Pop PK characteristics of TJ0113 Capsules in treating EOPD patients.
- Trial name
- NCT07741045
- Testing
- TJ0113 200mg, TJ0113 400mg
- Where
- 21 sites in China
- Volunteers
- 300 people
- Sponsor
- Hangzhou PhecdaMed Co., Ltd.
Hypercholesterolemia, Autosomal Dominant, Hypercholesterolemia, Autosomal Recessive
Integrating Whole Genome Sequencing and Digital Twins Into the Management of Hypercholesterolemia in Emiratis
This pilot study investigates integrating whole genome sequencing and digital twin technology for managing hypercholesterolemia in Abu Dhabi clinics.
- Conditions
- Hypercholesterolemia, Autosomal Dominant, Hypercholesterolemia, Autosomal Recessive, Familial Combined Hypercholesterolemia
- Trial name
- NCT06535542
- Testing
- Whole Genome Sequencing
- Where
- United Arab Emirates
- Volunteers
- 40 people
- Sponsor
- Abu Dhabi Health Services Company
Stargardt, Stargardt's Disease
An Observational Study in Subjects to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene
This is an Observational Study to Follow the Progression of Stargardt Disease Type 1 (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ABCA4 Gene This is a multicenter study which will enroll approximately 75…
- Conditions
- Stargardt, Stargardt's Disease, Stargardt Disease, STGD1
- Trial name
- POLARIS (NCT06435000)
- Where
- 20 sites in United States, Germany and 1 more
- Volunteers
- 75 people
- Sponsor
- Splice Bio
P47-Phox, Deficiency of
Lentiviral Gene Therapy for p47 AR-CGD
Chronic Granulomatous Disease (CGD) is a rare inherited disorder in which patients suffer from severe infection and inflammation. The first indications of disease usually appear in early childhood.
- Trial name
- NCT05207657
- Testing
- Lentiviral vector transduced CD34+ cells
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
p47, Autosomal Recessive
pCCLCHIM-p47 (Lentiviral Vector Transduced CD34 Plus Cells) in Patients With p47 Autosomal Recessive Chronic Granulomatous Disease (AR-CGD)
Background: Chronic granulomatous disease (CGD) is a genetic disorder. People with CGD are missing a gene that affects their white blood cells.
- Conditions
- p47, Autosomal Recessive, Chronic Granulomatous Disease
- Trial name
- NCT06253507
- Testing
- Cryopreserved Autologous CD34+ cells transduced with pCCLCHIM-p47
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Autosomal Recessive Polycystic Kidney (ARPKD)
A Study to See if Tolvaptan is Safe in Infants and Children Who at Enrollment Are 28 Days to Less Than 18 Years Old With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
To evaluate the pharmacodynamics and safety of tolvaptan in pediatric subjects with ARPKD
- Trial name
- NCT04782258
- Testing
- Tolvaptan Suspension, Tolvaptan Tablets
- Where
- 23 sites in United States, Belgium and 4 more
- Volunteers
- 20 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Acute Leukemia, Severe Aplastic Anemia
AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
Children, adolescents, and young adults with malignant and non-malignant conditionsundergoing an allogeneic stem cell transplantation (AlloSCT) will have the stem cells selected utilizing α/β CD3+/CD19+ cell depletion.
- Conditions
- Acute Leukemia, Severe Aplastic Anemia, Non-hodgkin Lymphoma, Hodgkin Lymphoma
- Trial name
- NCT04099966
- Testing
- alpha beta depletion
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Mitchell Cairo