Clinical trials: Autosomal Recessive Disorder
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
Polycystic Kidney, Autosomal Recessive
A Safety, Pharmacokinetic, Single Ascending Dose Study of Tesevatinib in Pediatric Subjects With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
This study evaluates safety and tolerability of a single ascending dose of a tesevatinib liquid formulation administered to pediatric subjects with ARPKD.
- Trial name
- NCT03096080
- Testing
- Tesevatinib
- Where
- 2 sites in United States
- Volunteers
- 10 people
- Sponsor
- Kadmon Corporation, LLC
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
Autosomal Recessive Polycystic Kidney Disease
Imaging Assessments of ARPKD Kidney Disease Progression
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a potentially lethal genetic disorder for which there are currently no disease specific treatments.
- Trial name
- IMAGE-ARPKD (NCT07201025)
- Where
- 2 sites in United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- The Cleveland Clinic
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
Biomarkers in Autosomal Dominant Cerebellar Ataxia
Autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders that are clinically and genetically various.
- Conditions
- Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia, Autosomal Recessive 3, Episodic Ataxia, Type 7
- Trial name
- BIOSCA (NCT01470729)
- Testing
- metabolic and imaging biomarkers in SCA1,2,3 and 7 patients
- Where
- France
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Pain, Burns
Decreasing REcurrent Pain and Anxiety in Medical Procedures With a Pediatric Population: Trial
Children with burn injuries experience severe pain intensity during medical procedures despite the increasing doses of analgesics.
- Conditions
- Pain, Burns, Child, Anxiety
- Trial name
- DREAM-T (NCT02947243)
- Testing
- VR distraction via Oculus Rift, Morphine
- Where
- Canada
- Sponsor
- St. Justine's Hospital
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
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
Severe Congenital Neutropenia, GATA2 Deficiency
Total Lymphoid Irradiation Pre-HSCT in Severe Congenital Neutropenia
Severe congenital neutropenia (SCN) is a group of primary immunodeficiencies caused by distinct gene mutations and characterized by neutrophil maturation impairment, which leads to neutropenia, predisposition to severe bacterial…
- Trial name
- NCT04844177
- Testing
- conditioning with TLI
- Where
- Russia
- Volunteers
- 10 people
- Sponsor
- Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Nephronophthisis, NPH1
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
- Conditions
- Nephronophthisis, NPH1, Autosomal, Recessive
- Trial name
- NPH1 (NCT06648044)
- Testing
- Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
- Where
- France
- Volunteers
- 310 people, healthy volunteers welcome
- Sponsor
- Imagine Institute
GJB2-mediated Hearing Loss, GJB2 Gene Mutation
Open-label Study of SKY-GJB2 in Pediatric Subjects With GJB2-mediated Hearing Loss
Skylark Bio is conducting a study of an investigational new drug called SKY-GJB2 and its delivery device, the SKY-CAT. SKY-GJB2 is a gene therapy that is being developed to treat children who have hearing loss due to changes in…
- Conditions
- GJB2-mediated Hearing Loss, GJB2 Gene Mutation, DFNB1A
- Trial name
- SONIX (NCT07627971)
- Testing
- SKY-GJB2
- Where
- 4 sites in United States
- Volunteers
- 10 people
- Sponsor
- Skylark Bio Inc.
Dysthymia, Anxiety Disorders
A Trial of Cognitive Behavioral Therapy in Familial Dysautonomia
To determine the effect of cognitive behavioral therapy (CBT) in the severity of anxiety and depression in adult patients with familial dysautonomia. Patients will be enrolled in an 8-week CBT program.
- Conditions
- Dysthymia, Anxiety Disorders, Familial Dysautonomia, Paroxysmal Hypertension
- Trial name
- NCT03013777
- Testing
- 8-week CBT Program
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- NYU Langone Health
Respiratory Distress Syndrome
High Flow Nasal Cannula in Comparison With Nasal Continuous Positive Airway Pressure in the Management of Respiratory Distress Syndrome
To compare the primary outcome, failure of extubation defined by the need for re-intubation and mechanical ventilation within 5 days of initial extubation and secondary outcomes, morbidities and mortality after using of heated…
- Trial name
- NCT02587832
- Testing
- HHHFNC, NCPAP
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Sidra Medicine
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency
Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency
The purpose of this study is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency and the early-onset form of adenosine triphosphate binding cassette transporter subfamily C…
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets
- Trial name
- NCT07745179
- Where
- 8 sites in United States, France and 2 more
- Volunteers
- 23 people
- Sponsor
- Inozyme Pharma
Hereditary Spastic Paraplegia, Neurodegenerative Diseases
Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
The purpose of the HSP Sequencing Initiative is to better understand the role of genetics in hereditary spastic paraplegia (HSP) and related disorders.
- Conditions
- Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder, Spasticity, Muscle
- Trial name
- NCT05354622
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Boston Children's Hospital
Sleep Apnea, Cardiovascular Diseases
Oxidative Stress and Cardiovascular Morbidity in Sleep Apnea-Hypopnea Syndrome (SAHS)
The purpose of this study is to compare the levels of 8-isoprostane and other oxidative stress biomarkers in plasma and condensed exhaled air between patients with SAHS and cardiovascular complications, patients with SAHS without…
- Trial name
- OSCAMSA (NCT00487929)
- Testing
- nasal CPAP
- Where
- Spain
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Hospital Universitario La Paz
Congenital Amegakaryocytic Thrombocytopenia, Diamond-blackfan Anemia
Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
RATIONALE: Monoclonal antibodies, such as alemtuzumab, can block cancer growth in different ways. Some block the ability of cancer cells to grow and spread.
- Conditions
- Congenital Amegakaryocytic Thrombocytopenia, Diamond-blackfan Anemia, Leukemia, Myelodysplastic Syndromes
- Trial name
- NCT00301834
- Testing
- alemtuzumab, busulfan, cyclosporine
- Where
- 2 sites in United States
- Volunteers
- 35 people
- Sponsor
- University of California, San Francisco
Common Variable Immunodeficiency, X-linked Agammaglobulinemia
Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy
The objective of this study is to assess the efficacy, tolerability, safety and pharmacokinetics of IgPro20 in patients with primary humoral immunodeficiency (PID).
- Conditions
- Common Variable Immunodeficiency, X-linked Agammaglobulinemia, Autosomal Recessive Agammaglobulinemia
- Trial name
- NCT00542997
- Testing
- Human Normal Immunoglobulin for Subcutaneous Administration (IGSC)
- Where
- 19 sites in France, Germany and 7 more
- Volunteers
- 51 people
- Sponsor
- CSL Behring
Sleep Apnea
Spanish Registry of Patients With Sleep Apnea and Daytime Sleepiness
Multicenter, observational and prospective study, in which patients referred to the sleep unit with suspected apnea will be recruited obstructive sleep.
- Trial name
- HYPNOSA (NCT06514482)
- Testing
- Diagnosis
- Where
- Spain
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Hospital San Pedro de Logroño
Acute Coronary Syndrome
Vascular Endothelial Growth Factor (VEGF), Platelet Derived Growth Factor (PDGF), Hepatocyte Growth Factor (HGF) in Patients With Acute Coronary Syndrome (ACS)
The main aim of the study is a comparison of serum and plasma concentration of VEGF (Vascular Endothelial Growth Factor), HGF (Hepatocyte Growth Factor) and PDGF (Platelet Derived Growth Factor) with markers of myocardial injury…
- Trial name
- NCT00844987
- Where
- Poland
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- National Institute of Cardiology, Warsaw, Poland