Clinical trials: Autosomal Recessive Disorder
Gene Mutations, Pseudoxanthoma Elasticum
ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency
The purpose of this study (Study INZ701-304 [ADAPT]) is to assess the long-term safety of INZ-701 in patients with ENPP1 Deficiency or ABCC6 Deficiency who have received INZ-701 in an existing clinical study and choose to…
- Conditions
- Gene Mutations, Pseudoxanthoma Elasticum, Arterial Calcification, Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency
- Trial name
- NCT06462547
- Testing
- INZ-701
- Where
- 5 sites in United States, France and 2 more
- Volunteers
- 22 people
- Sponsor
- Inozyme Pharma
Obstructive Sleep Apnea
Home Diagnosis and Treatment of Obstructive Sleep Apnea
Obstructive Sleep Apnea (OSA) is a common and underrecognised condition. The diagnosis of OSA is typically made after an in-lab polysomnography (PSG) which requires an overnight stay in a sleep laboratory.
- Trial name
- NCT00139022
- Testing
- Continuous Positive Airway Pressure
- Where
- Canada
- Volunteers
- 50 people
- Sponsor
- University of Saskatchewan
Homozygous Familial Hypercholesterolemia
HoFH, the International Clinical Collaborators Registry
Homozygous familial hypercholesterolemia (HoFH), a rare inherited disorder caused by bi-allelic mutations in the LDL Receptor pathway, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C)…
- Trial name
- HICC (NCT04815005)
- Testing
- Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
- Where
- 4 sites in United States, Netherlands and 1 more
- Volunteers
- 1,000 people
- Sponsor
- University of Pennsylvania
Myocardial Infarction
Study to Evaluate the Safety and Activity of BB3 to Treat Heart Attack
The study will evaluate the effect of BB3 to preserve myocardial (heart) tissue and function following myocardial infarction (heart attack).
- Trial name
- NCT01539590
- Testing
- BB3, Normal saline
- Where
- 2 sites in United States
- Volunteers
- 5 people
- Sponsor
- Angion Biomedica Corp
Congenital Amegakaryocytic Thrombocytopenia, Diamond-blackfan Anemia
Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
RATIONALE: Drugs used in chemotherapy, such as busulfan and fludarabine, work in different ways to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing.
- Conditions
- Congenital Amegakaryocytic Thrombocytopenia, Diamond-blackfan Anemia, Fanconi Anemia, Leukemia
- Trial name
- NCT00305708
- Testing
- anti-thymocyte globulin, busulfan, fludarabine phosphate
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of California, San Francisco
Hereditary Spastic Paraplegia, Spastic Paraplegia Type 11
Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11)
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.
- Trial name
- 3AL-SPG11 (NCT04912609)
- Where
- Italy
- Volunteers
- 13 people
- Sponsor
- IRCCS Fondazione Stella Maris
Diabetes, Diabetic Kidney Disease
Immune System in Diabetic Kidney Disease
Diabetes is a chronic condition marked by long-term elevated blood glucose levels. There are more types of diabetes; the majority of patients have type 1 or type 2 diabetes.
- Conditions
- Diabetes, Diabetic Kidney Disease, Complement System
- Trial name
- KID-CODE (NCT07292493)
- Where
- Slovenia
- Volunteers
- 90 people
- Sponsor
- University Medical Centre Ljubljana
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
Burns, Child
Virtual Reality Distraction for Procedural Pain Management in Children With Burn Injuries: a Randomized Controlled Trial
Procedural pain is the most intense and often undertreated pain associated with burn injuries. The use of analgesics does not always provide optimal relief and is accompanied by several side effects.
- Conditions
- Burns, Child, Pain
- Trial name
- NCT02986464
- Testing
- Virtual Reality Prototype, Standard Pharmacological Treatment
- Where
- Canada
- Volunteers
- 38 people
- Sponsor
- St. Justine's Hospital
Thalassemia, Sickle Cell Disease
Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
Allogeneic blood and marrow transplantation remains the only viable cure for children who suffer from many serious non-malignant hematological diseases. Transplantation, however, carries a high risk of fatal complications.
- Conditions
- Thalassemia, Sickle Cell Disease, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome
- Trial name
- NCT01319851
- Testing
- Alefacept
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Emory University
Sickle Cell Disease, Thalassemia
Stem Cell Transplant for Hemoglobinopathy
This study tests the clinical outcomes of one of two preparative regimens (determined by available donor source) in patients with non-malignant hemoglobinopathies.
- Conditions
- Sickle Cell Disease, Thalassemia, Severe Congenital Neutropenia, Diamond-Blackfan Anemia
- Trial name
- NCT00176852
- Testing
- Busulfan, Fludarabine, ATG, TLI, Busulfan, Cyclophosphamide, ATG, GCSF, Campath, Fludarabine, Cyclophosphamide
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma.
- Conditions
- Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease, Cystic Fibrosis, Fragile X Syndrome
- Trial name
- DANNIgene (NCT06147414)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 550 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Spinal Cord Injuries
Phase I/II Study of KP-100IT in Acute Spinal Cord Injury
This study is randomized, double-blind, placebo-controlled Phase I/II study designed to evaluate safety and efficacy of KP-100IT, code of Hepatocyte Growth Factor (HGF) formulation for intrathecal injection, as a treatment for…
- Trial name
- NCT02193334
- Testing
- KP-100IT
- Where
- 2 sites in Japan
- Volunteers
- 45 people
- Sponsor
- Kringle Pharma, Inc.
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.
Primary Hyperoxaluria
Phenotyping of Primary Hyperoxaluria
985 / 5000 Résultats de traduction Primary hyperoxaluria is a rare autosomal recessive disease with an estimated prevalence of around 1 to 3 cases per million population.
- Trial name
- PHENO-HOPLA (NCT05107830)
- Where
- France
- Volunteers
- 186 people
- Sponsor
- University Hospital, Strasbourg, France
Cerebral Palsy, Cerebral Palsy, Mixed
10-week Leucine Supplementation in Cerebral Palsy
The purpose of this study is to assess the effects of 10-weeks leucine supplementation on muscle growth, metabolism, body composition, inflammation and wellbeing in adolescents and young adults with CP.
- Conditions
- Cerebral Palsy, Cerebral Palsy, Mixed, Cerebral Palsy Ataxic
- Trial name
- NCT03668548
- Testing
- Leucine
- Where
- 2 sites in United Kingdom
- Volunteers
- 25 people
- Sponsor
- St Mary's University College
Sensorineural Hearing Loss, Bilateral, AUNB1
Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
The purpose of this study is to follow the natural history of non-syndromic hearing loss caused by mutations in two genes (GJB2 or OTOF) in children up to 16 years of age.
- Conditions
- Sensorineural Hearing Loss, Bilateral, AUNB1, DFNB1A, Congenital Deafness
- Trial name
- Otoconex (NCT05402813)
- Testing
- Pure Tone Audiometry Assessment, Quality of Life Questionnaires
- Where
- France
- Volunteers
- 180 people
- Sponsor
- Sensorion
Glycogen Storage Disease
A Study of mRNA-3745 in Adult and Pediatric Participants With Glycogen Storage Disease Type 1a (GSD1a)
The main goal of this trial is to evaluate the safety and tolerability of mRNA-3745 via intravenous (IV) administration in adult and pediatric participants with GSD1a.
- Trial name
- NCT05095727
- Testing
- mRNA-3745
- Where
- 16 sites in United States, Canada and 4 more
- Volunteers
- 15 people
- Sponsor
- ModernaTX, Inc.
Citrate Transporter Deficiency, Epilepsy
SLC13A5 Deficiency Natural History Study - Remote Only
SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life.
- Conditions
- Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders
- Trial name
- NCT04681781
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- TESS Research Foundation
Chronic Granulomatous Disease
Generation of Powerful Biological Tools for Understanding the Pathophysiology of Chronic Granulomatous Disease.
Chronic granulomatous disease (CGD) is a rare genetic disease of innate immune due to the malfunction of phagocytic cells unable to destroy pathogens during infection.
- Trial name
- FIBRO CGD (NCT02926963)
- Testing
- samples collection : hair and skin biopsy
- Where
- France
- Volunteers
- 3 people
- Sponsor
- University Hospital, Grenoble