Clinical trials: Autosomal Recessive Disorder
Alport Syndrome, X-Linked, Alport Syndrome, Autosomal Recessive
EXACT Study: A Blinded Study in Patients With Alport Syndrome to Evaluate Exaluren Efficacy and Safety
This is a randomized, double-Blind, placebo-controlled study to evaluate the efficacy and safety of exaluren in Alport Syndrome patients with nonsense mutations in COL4A3/4/5 genes.
- Trial name
- NCT07523581
- Testing
- Exaluren
- Where
- 11 sites in United States, United Kingdom
- Volunteers
- 24 people
- Sponsor
- Eloxx Pharmaceuticals, Inc.
TNNT1-associated Myopathy, Infantile-onset Nemaline Rod Myopathy
WiTNNess - TNNT1 Myopathy Natural History Study
WiTNNess is designed to accurately document the natural course and variation of muscle disease caused by pathogenic changes of the TNNT1 gene.
- Conditions
- TNNT1-associated Myopathy, Infantile-onset Nemaline Rod Myopathy, Myopathies, Nemaline, Myopathy
- Trial name
- WiTNNess (NCT06374719)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Clinic for Special Children
Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease
Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and susceptibility to neoplastic diseases.
- Conditions
- Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease, Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases., Hematopoiesis Maintainance.
- Trial name
- NCT01995305
- Testing
- human whole exome, whole genomic
- Where
- China
- Sponsor
- Xiaofan Zhu
IgA Nephropathy, Lupus Nephritis (LN)
A Phase 2 Study to Evaluate the Safety, PD, PK, and Clinical Activity of ADX-097 in Participants With IgAN, LN or C3G
A Phase 2 Study to Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Clinical Activity of ADX-097 Administered Subcutaneously in Male and Female Participants Aged 16 Years or Older with Immunoglobulin A Nephropathy…
- Conditions
- IgA Nephropathy, Lupus Nephritis (LN), C3 (Complement Component 3) Glomerulopathy
- Trial name
- NCT06419205
- Testing
- ADX-097
- Where
- 4 sites in United States, Brazil
- Volunteers
- 30 people
- Sponsor
- Akebia Therapeutics
Stargardt Disease, Stargardt Macular Degeneration
A Phase 1/2, First-in-Human Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects With Stargardt Disease (STGD1)
This Phase 1/2 study will evaluate the safety, tolerability, and preliminary efficacy of subretinal SB-007 administration to determine dose selection in subjects with Stargardt's Type 1 (STGD1).
- Conditions
- Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy
- Trial name
- ASTRA (NCT06942572)
- Testing
- SB-007
- Where
- 5 sites in United States
- Volunteers
- 57 people
- Sponsor
- Splice Bio
Macular Degeneration
Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular Dystrophy
This study will evaluate whether docosahexaenoic acid (DHA) dietary supplementation can improve macular function in patients with Stargardt macular dystrophy and Stargardt-like macular dystrophy.
- Trial name
- NCT00060749
- Testing
- Docosahexaenoic Acid (DHA) Dietary Supplement
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- National Eye Institute (NEI)
Hepato/Renal Fibrocystic Disease, Autosomal Recessive Polycystic Kidney Disease
ARPKD Database Study
Hepato-renal fibrocystic diseases (HRFD) is a term developed that encompasses rare diseases such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), and other diseases with common features (Joubert syndrome, Bardet Biedl…
- Conditions
- Hepato/Renal Fibrocystic Disease, Autosomal Recessive Polycystic Kidney Disease, Joubert Syndrome, Bardet Biedl Syndrome
- Trial name
- ARPKD (NCT01401998)
- Where
- 6 sites in United States
- Volunteers
- 200 people
- Sponsor
- Children's Hospital of Philadelphia
Inflammatory Bowel Diseases
Multi-center Clinical Study of Cord Blood Stem Cell Transplantation for IBD Caused by IL-10R Gene Deficiency
Very early onset inflammatory bowel disease (VEO-IBD) is a special subtype of children's inflammatory bowel disease (IBD). VEO-IBD is mostly caused by single-gene defects and can be cured by allo-hematopoietic stem cell…
- Trial name
- NCT04170192
- Testing
- Cord Blood Stem Cell Transplantation
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Children's Hospital of Fudan University
Ciliopathy
Clinical and Molecular Investigations Into Ciliopathies
This study will evaluate patients ciliopathies. People with ciliopathies develop fibrocystic disease of the kidneys and liver, retinal degeneration, obesity, structural and functional defects of the central nervous system and the…
- Trial name
- NCT00068224
- Where
- United States
- Volunteers
- 374 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Sickle Cell Disease, Transfusion Dependent Alpha- or Beta- Thalassemia
Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
This is a study to collect the outcomes of stem cell transplantation for patients with hematologic diseases other than cancer.
- Conditions
- Sickle Cell Disease, Transfusion Dependent Alpha- or Beta- Thalassemia, Diamond Blackfan Anemia, Paroxysmal Nocturnal Hemoglobinuria
- Trial name
- NCT02179359
- Testing
- Reduced Toxicity Ablative Regimen, Reduced Intensity Preparative Regimen, Myeloablative Preparative Regimen
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Acute-graft-versus-host Disease, Steroid Refractory Acute Graft Versus Host Disease
Early Access Program Using Alpha 1 Antitrypsin Infusion for Patients With Steroid Refractory Acute GvHD After Hematopoietic Stem Cell Transplantation (HSCT)
An Early Access Program for patients with steroid refractory acute GvHD after hematopoietic stem cell transplantation. This Program is available for female and male who are recipients of allogenic HSCT and who have been newly…
- Conditions
- Acute-graft-versus-host Disease, Steroid Refractory Acute Graft Versus Host Disease, Graft-versus-host-disease, Graft Vs Host Disease
- Trial name
- NCT03172455
- Testing
- Glassia
- Sponsor
- Impatients N.V. trading as myTomorrows
Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital
Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital
polycystic kidney disease is aherditary disorder characterized by the formation of numerous fluid filled cysts in the kidneys which can lead to progressive renal impairment PKDencompasses aspectrum of disorders with autosomal…
- Trial name
- NCT06601829
- Testing
- abdominal ultrasound
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Sohag University
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association
Ataxia, Spinocerebellar, Ataxias, Hereditary
Functional Trunk Training in Ataxia Patients
The study is to examine the effect of functional trunk training on trunk control and upper extremity functions in patients with autosomal recessive ataxia.
- Trial name
- NCT04740359
- Testing
- Functional training, Routine training
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people
- Sponsor
- Hasan Kalyoncu University
Inherited Bone Marrow Failure Syndrome, Fanconi Anemia
Enhancing the Clinical Management of CMF Through a National Pediatric and Adult Network Based on Biological and Genetic Data
A non-profit, translational, prospective and retrospective study. Patients will be enrolled according to the procedures described in the protocol, and samples will be processed and analyzed as specified in the protocol.
- Conditions
- Inherited Bone Marrow Failure Syndrome, Fanconi Anemia, Dyskeratosis Congenita, Telomere Biology Disorder
- Trial name
- 2023-12377081 (NCT07877727)
- Where
- 4 sites in Italy
- Volunteers
- 250 people
- Sponsor
- Istituto Giannina Gaslini
LAD1
Ustekinumab (Anti-IL-12/23p40 Monoclonal Antibody) in Patients With Leukocyte Adhesion Deficiency Type 1 (LAD1) Who Have Inflammatory Pathology
Background: The disease leukocyte adhesion deficiency type 1 (LAD1) affects white blood cells. Those are immune system cells. In people with LAD1, white blood cells do not properly communicate with the rest of the body.
- Trial name
- NCT03366142
- Testing
- Ustekinumab
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Burn, Child
Virtual Reality Distraction for Procedural Pain Management and Anxiety in Children With Burn Injuries : A Pilot Study
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
- Burn, Child, Pain, Anxiety
- Trial name
- NCT02794103
- Testing
- Virtual Reality Distraction
- Where
- Canada
- Volunteers
- 18 people
- Sponsor
- St. Justine's Hospital
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, Spastic Paraplegia 7
Effects of a Supervised Rehabilitation Program on Disease Severity in Spastic Ataxias
Spastic ataxias are a group of diseases causing symptoms such as walking difficulties and balance impairments that lead to a high risk of falls. No pharmacological treatments exist to treat these diseases.
- Trial name
- NCT06261424
- Testing
- IMPACT - rehabIlitation prograM for sPAstiC aTaxias
- Where
- 5 sites in Canada
- Volunteers
- 84 people
- Sponsor
- Laval University
Virtual Reality, Pain
Virtual Reality vs Passive Distraction for Pain Management
Background: Outpatient pediatric orthopedic procedures such as percutaneous pins removal and sutures are considered painful and generate significant stress and anxiety in children.
- Conditions
- Virtual Reality, Pain, Pain Perception, Pain Management
- Trial name
- NCT03680625
- Testing
- Passive Distraction, Virtual Reality Distraction
- Where
- 3 sites in Canada
- Volunteers
- 188 people
- Sponsor
- St. Justine's Hospital