- Conditions
- Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy
- Interventions
- SB-007
- Genetic
- Lead sponsor
- Splice Bio
- Industry
- Eligibility
- 12 Years to 65 Years
- Enrollment
- 57 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2028
- U.S. locations
- 5
- States / cities
- Aurora, Colorado • Miami, Florida • Boston, Massachusetts + 2 more
Search Results
Search by objective public record fields.
Search by query text, NCT ID, condition, intervention, sponsor, city, state, recruitment status, phase, study type, healthy volunteer eligibility, sex, or age. Results come from ClinicalTrials.gov. When the live registry is unavailable, a clearly labeled stored copy may be shown.
These results were retrieved from the live ClinicalTrials.gov registry. Filters and sort order apply to this result list.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Showing 1–24
of 95
matching trials from the live ClinicalTrials.gov search.
- Conditions
- Neuronal Ceroid-Lipofuscinoses, Neuronal Ceroid Lipofuscinosis CLN2, Spinocerebellar Ataxia, Autosomal Recessive 7
- Interventions
- Not listed
- Lead sponsor
- Children's Hospital of Orange County
- Other
- Eligibility
- 4 Years and older
- Enrollment
- 5 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2026
- U.S. locations
- 1
- States / cities
- Orange, California
- Conditions
- GJB2-mediated Hearing Loss, GJB2 Gene Mutation, DFNB1A
- Interventions
- SKY-GJB2
- Combination Product
- Lead sponsor
- Skylark Bio Inc.
- Industry
- Eligibility
- 9 Months to 7 Years
- Enrollment
- 10 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2028
- U.S. locations
- 4
- States / cities
- Bethesda, Maryland • Boston, Massachusetts • Oklahoma City, Oklahoma + 1 more
- Conditions
- Antibody-mediated Rejection, Hyperacute Rejection of Cardiac Transplant, Left Ventricular Dysfunction, Cardiac Allograft Vasculopathy, Heart Graft Dysfunction
- Interventions
- Eculizumab
- Drug
- Lead sponsor
- Cedars-Sinai Medical Center
- Other
- Eligibility
- 18 Years to 75 Years
- Enrollment
- 36 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2012 – 2020
- U.S. locations
- 1
- States / cities
- Los Angeles, California
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome, Prenatal Benign Hypophosphatasia, Perinatal Lethal Hypophosphatasia, Odontohypophosphatasia, Adult Hypophosphatasia, Childhood-onset Hypophosphatasia, Infantile Hypophosphatasia, Hypophosphatasia, Kabuki Syndrome, Bohring-Opitz Syndrome, Narcolepsy Without Cataplexy, Narcolepsy-cataplexy, Hypersomnolence Disorder, Idiopathic Hypersomnia Without Long Sleep Time, Idiopathic Hypersomnia With Long Sleep Time, Idiopathic Hypersomnia, Kleine-Levin Syndrome, Kawasaki Disease, Leiomyosarcoma, Leiomyosarcoma of the Corpus Uteri, Leiomyosarcoma of the Cervix Uteri, Leiomyosarcoma of Small Intestine, Acquired Myasthenia Gravis, Addison Disease, Hyperacusis (Hyperacousis), Juvenile Myasthenia Gravis, Transient Neonatal Myasthenia Gravis, Williams Syndrome, Lyme Disease, Myasthenia Gravis, Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome), Isolated Klippel-Feil Syndrome, Frasier Syndrome, Denys-Drash Syndrome, Beckwith-Wiedemann Syndrome, Emanuel Syndrome, Isolated Aniridia, Axenfeld-Rieger Syndrome, Aniridia-intellectual Disability Syndrome, Aniridia - Renal Agenesis - Psychomotor Retardation, Aniridia - Ptosis - Intellectual Disability - Familial Obesity, Aniridia - Cerebellar Ataxia - Intellectual Disability, Aniridia - Absent Patella, Aniridia, Peters Anomaly - Cataract, Peters Anomaly, Potocki-Shaffer Syndrome, Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11, Silver-Russell Syndrome Due to Imprinting Defect of 11p15, Silver-Russell Syndrome Due to 11p15 Microduplication, Syndromic Aniridia, WAGR Syndrome, Wolf-Hirschhorn Syndrome, 4p16.3 Microduplication Syndrome, 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome, Autosomal Recessive Stickler Syndrome, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Stickler Syndrome, Mucolipidosis Type 4, X-linked Spinocerebellar Ataxia Type 4, X-linked Spinocerebellar Ataxia Type 3, X-linked Intellectual Disability - Ataxia - Apraxia, X-linked Progressive Cerebellar Ataxia, X-linked Non Progressive Cerebellar Ataxia, X-linked Cerebellar Ataxia, Vitamin B12 Deficiency Ataxia, Toxic Exposure Ataxia, Unclassified Autosomal Dominant Spinocerebellar Ataxia, Thyroid Antibody Ataxia, Sporadic Adult-onset Ataxia of Unknown Etiology, Spinocerebellar Ataxia With Oculomotor Anomaly, Spinocerebellar Ataxia With Epilepsy, Spinocerebellar Ataxia With Axonal Neuropathy Type 2, Spinocerebellar Ataxia Type 8, Spinocerebellar Ataxia Type 7, Spinocerebellar Ataxia Type 6, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 37, Spinocerebellar Ataxia Type 36, Spinocerebellar Ataxia Type 35, Spinocerebellar Ataxia Type 34, Spinocerebellar Ataxia Type 32, Spinocerebellar Ataxia Type 31, Spinocerebellar Ataxia Type 30, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 29, Spinocerebellar Ataxia Type 28, Spinocerebellar Ataxia Type 27, Spinocerebellar Ataxia Type 26, Spinocerebellar Ataxia Type 25, Spinocerebellar Ataxia Type 23, Spinocerebellar Ataxia Type 22, Spinocerebellar Ataxia Type 21, Spinocerebellar Ataxia Type 20, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 19/22, Spinocerebellar Ataxia Type 18, Spinocerebellar Ataxia Type 17, Spinocerebellar Ataxia Type 16, Spinocerebellar Ataxia Type 15/16, Spinocerebellar Ataxia Type 14, Spinocerebellar Ataxia Type 13, Spinocerebellar Ataxia Type 12, Spinocerebellar Ataxia Type 11, Spinocerebellar Ataxia Type 10, Spinocerebellar Ataxia Type 1 With Axonal Neuropathy, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia - Unknown, Spinocerebellar Ataxia - Dysmorphism, Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature, Spasticity-ataxia-gait Anomalies Syndrome, Spastic Ataxia With Congenital Miosis, Spastic Ataxia - Corneal Dystrophy, Spastic Ataxia, Rare Hereditary Ataxia, Rare Ataxia, Recessive Mitochondrial Ataxia Syndrome, Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature, Posterior Column Ataxia - Retinitis Pigmentosa, Post-Stroke Ataxia, Post-Head Injury Ataxia, Post Vaccination Ataxia, Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract, Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus, Non-hereditary Degenerative Ataxia, Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity, Olivopontocerebellar Atrophy - Deafness, NARP Syndrome, Myoclonus - Cerebellar Ataxia - Deafness, Multiple System Atrophy, Parkinsonian Type, Multiple System Atrophy, Cerebellar Type, Multiple System Atrophy, Maternally-inherited Leigh Syndrome, Machado-Joseph Disease Type 3, Machado-Joseph Disease Type 2, Machado-Joseph Disease Type 1, Leigh Syndrome, Late-onset Ataxia With Dementia, Infection or Post Infection Ataxia, GAD Ataxia, Hereditary Episodic Ataxia, Gliadin/Gluten Ataxia, Friedreich Ataxia, Fragile X-associated Tremor/Ataxia Syndrome, Familial Paroxysmal Ataxia, Exposure to Medications Ataxia, Episodic Ataxia With Slurred Speech, Episodic Ataxia Unknown Type, Episodic Ataxia Type 7, Episodic Ataxia Type 6, Episodic Ataxia Type 5, Episodic Ataxia Type 4, Episodic Ataxia Type 3, Episodic Ataxia Type 1, Epilepsy and/or Ataxia With Myoclonus as Major Feature, Early-onset Spastic Ataxia-neuropathy Syndrome, Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity, Early-onset Cerebellar Ataxia With Retained Tendon Reflexes, Early-onset Ataxia With Dementia, Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia, Dilated Cardiomyopathy With Ataxia, Cataract - Ataxia - Deafness, Cerebellar Ataxia, Cayman Type, Cerebellar Ataxia With Peripheral Neuropathy, Cerebellar Ataxia - Hypogonadism, Cerebellar Ataxia - Ectodermal Dysplasia, Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss, Brain Tumor Ataxia, Brachydactyly - Nystagmus - Cerebellar Ataxia, Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia, Autosomal Recessive Syndromic Cerebellar Ataxia, Autosomal Recessive Spastic Ataxia With Leukoencephalopathy, Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria, Autosomal Recessive Spastic Ataxia, Autosomal Recessive Metabolic Cerebellar Ataxia, Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine, Autosomal Recessive Ataxia, Beauce Type, Autosomal Recessive Ataxia Due to Ubiquinone Deficiency, Autosomal Recessive Ataxia Due to PEX10 Deficiency, Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia, Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency, Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency, Autosomal Recessive Congenital Cerebellar Ataxia, Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome, Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity, Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency, Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect, Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion, Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation, Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness, Autosomal Recessive Cerebellar Ataxia, Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly, Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation, Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy, Autosomal Dominant Spastic Ataxia Type 1, Autosomal Dominant Spastic Ataxia, Autosomal Dominant Optic Atrophy, Ataxia-telangiectasia Variant, Ataxia-telangiectasia, Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy, Autosomal Dominant Cerebellar Ataxia Type 4, Autosomal Dominant Cerebellar Ataxia Type 3, Autosomal Dominant Cerebellar Ataxia Type 2, Autosomal Dominant Cerebellar Ataxia Type 1, Autosomal Dominant Cerebellar Ataxia, Ataxia-telangiectasia-like Disorder, Ataxia With Vitamin E Deficiency, Ataxia With Dementia, Ataxia - Oculomotor Apraxia Type 1, Ataxia - Other, Ataxia - Genetic Diagnosis - Unknown, Acquired Ataxia, Adult-onset Autosomal Recessive Cerebellar Ataxia, Alcohol Related Ataxia, Multiple Endocrine Neoplasia, Multiple Endocrine Neoplasia Type II, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2, Multiple Endocrine Neoplasia, Type IV, Multiple Endocrine Neoplasia, Type 3, Multiple Endocrine Neoplasia (MEN) Syndrome, Multiple Endocrine Neoplasia Type 2B, Multiple Endocrine Neoplasia Type 2A, Atypical Hemolytic Uremic Syndrome, Atypical HUS, Wiedemann-Steiner Syndrome, Breast Implant-Associated Anaplastic Large Cell Lymphoma, Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA), Hemophagocytic Lymphohistiocytosis, Behcet's Disease, Alagille Syndrome, Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD), Lowe Syndrome, Pitt Hopkins Syndrome, 1p36 Deletion Syndrome, Jansen Type Metaphyseal Chondrodysplasia, Cockayne Syndrome, Chronic Recurrent Multifocal Osteomyelitis, CRMO, Malan Syndrome, Hereditary Sensory and Autonomic Neuropathy Type Ie, VCP Disease, Hypnic Jerking, Sleep Myoclonus, Mollaret Meningitis, Recurrent Viral Meningitis, CRB1, Leber Congenital Amaurosis, Retinitis Pigmentosa, Rare Retinal Disorder, KCNMA1-Channelopathy, Primary Biliary Cirrhosis, ZMYND11, Transient Global Amnesia, Glycogen Storage Disease, Alstrom Syndrome, White Sutton Syndrome, DNM1, EIEE31, Myhre Syndrome, Recurrent Respiratory Papillomatosis, Laryngeal Papillomatosis, Tracheal Papillomatosis, Refsum Disease, Nicolaides Baraitser Syndrome, Leukodystrophy, Tango2, Cauda Equina Syndrome, Rare Gastrointestinal Disorders, Achalasia-Addisonian Syndrome, Achalasia Cardia, Achalasia Icrocephaly Syndrome, Anal Fistula, Congenital Sucrase-Isomaltase Deficiency, Eosinophilic Gastroenteritis, Idiopathic Gastroparesis, Hirschsprung Disease, Rare Inflammatory Bowel Disease, Intestinal Pseudo-Obstruction, Scleroderma, Short Bowel Syndrome, Sacral Agenesis, Sacral Agenesis Syndrome, Caudal Regression, Scheuermann Disease, SMC1A Truncated Mutations (Causing Loss of Gene Function), Cystinosis, Juvenile Nephropathic Cystinosis, Nephropathic Cystinosis, Kennedy Disease, Spinal Bulbar Muscular Atrophy, Warburg Micro Syndrome, Mucolipidoses, Mitochondrial Diseases, Mitochondrial Aminoacyl-tRNA Synthetases, Mt-aaRS Disorders, Hypertrophic Olivary Degeneration, Non-Ketotic Hyperglycinemia, Fish Odor Syndrome, Halitosis, Isolated Congenital Asplenia, Lambert Eaton (LEMS), Biliary Atresia, STAG1 Gene Mutation, Coffin Lowry Syndrome, Borjeson-Forssman-Lehman Syndrome, Blau Syndrome, Arginase 1 Deficiency, HSPB8 Myopathy, Beta-Mannosidosis, TBX4 Syndrome, DHDDS Gene Mutations, MAND-MBD5-Associated Neurodevelopmental Disorder, Constitutional Mismatch Repair Deficiency (CMMRD), SPATA5 Disorder, SPATA5L1 Related Disorder, Acrodysostosis, Multi-systematic Smooth Muscle Dysfunction Syndrome, CRELD1 (Cysteine Rich With EGF Like Domains 1), GNB1 Syndrome, Pyruvate Dehydrogenase Complex Deficiency Disease, Beta Mannosidosis, Kbg Syndrome, Labrune Syndrome, Metachromatic Leukodystrophy (MLD), Moyamoya Disease, OPHN1 Syndrome, Oculopharyngeal Muscular Dystrophy (OPMD), TUBB3 Mutation, WOREE (WWOX-related Epileptic Encephalopathy, SCAR12, Skraban-Deardorff Syndrome, Hereditary Myopathy With Early Respiratory Failure
- Interventions
- Not listed
- Lead sponsor
- Sanford Health
- Other
- Eligibility
- Not listed
- Enrollment
- 20,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2100
- U.S. locations
- 1
- States / cities
- Sioux Falls, South Dakota
- Conditions
- Chronic Granulomatous Disease, Granulomatous Disease, Chronic
- Interventions
- PM359
- Biological
- Lead sponsor
- Prime Medicine, Inc.
- Industry
- Eligibility
- 6 Years and older
- Enrollment
- 12 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2030
- U.S. locations
- 3
- States / cities
- Los Angeles, California • Bethesda, Maryland • Nashville, Tennessee
- Conditions
- Canavan Disease
- Interventions
- AAV9 BBP-812
- Biological
- Lead sponsor
- Aspa Therapeutics
- Industry
- Eligibility
- Up to 30 Months
- Enrollment
- 26 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2032
- U.S. locations
- 4
- States / cities
- Oakland, California • Chicago, Illinois • Boston, Massachusetts + 1 more
- Conditions
- Chronic Granulomatous Disease (CGD)
- Interventions
- Not listed
- Lead sponsor
- Ensoma
- Industry
- Eligibility
- Not listed
- Enrollment
- 60 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2026
- U.S. locations
- 50
- States / cities
- Montgomery, Alabama • Phoenix, Arizona • Little Rock, Arkansas + 47 more
- Conditions
- Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency
- Interventions
- No Intervention for this observational study
- Other
- Lead sponsor
- Inozyme Pharma
- Industry
- Eligibility
- Not listed
- Enrollment
- 54 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2026
- U.S. locations
- 5
- States / cities
- Chicago, Illinois • Boston, Massachusetts • Rochester, Minnesota + 2 more
- Conditions
- Colorectal Neoplasms
- Interventions
- Tepotinib, Cetuximab
- Drug · Biological
- Lead sponsor
- EMD Serono Research & Development Institute, Inc.
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 3 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2022
- U.S. locations
- 13
- States / cities
- Phoenix, Arizona • La Jolla, California • Santa Monica, California + 10 more
- Conditions
- Lamellar Ichthyosis
- Interventions
- CD5789 Cream 200 µg/g, CD5789 Cream 100 µg/g, CD5789 Cream Vehicle
- Drug
- Lead sponsor
- Mayne Pharma International Pty Ltd
- Industry
- Eligibility
- 12 Years and older
- Enrollment
- 65 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2021
- U.S. locations
- 10
- States / cities
- San Diego, California • Aurora, Colorado • New Haven, Connecticut + 7 more
- Conditions
- Parkinson Disease 6, Early-Onset, Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human, Parkinson Disease Autosomal Recessive, Early Onset, Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1
- Interventions
- Not listed
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- NIH
- Eligibility
- 18 Years to 80 Years
- Enrollment
- 31 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2017
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Epilepsy, GLUT1DS1, Glut1 Deficiency Syndrome 1, Autosomal Recessive, Glucose Metabolism Disorders, Glucose Transport Defect, Glucose Transporter Type 1 Deficiency Syndrome, Glucose Transporter Protein Type 1 Deficiency Syndrome
- Interventions
- Triheptanoin
- Drug
- Lead sponsor
- Juan Pascual
- Other
- Eligibility
- 2 Years to 35 Years
- Enrollment
- 12 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017
- U.S. locations
- 1
- States / cities
- Dallas, Texas
- Conditions
- Bone Marrow Failure Syndrome, Severe Aplastic Anemia, Severe Congenital Neutropenia, Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Schwachman Diamond Syndrome, Primary Immunodeficiency Syndromes, Acquired Immunodeficiency Syndromes, Histiocytic Syndrome, Familial Hemophagocytic Lymphocytosis, Lymphohistiocytosis, Macrophage Activation Syndrome, Langerhans Cell Histiocytosis (LCH), Hemoglobinopathies, Sickle Cell Disease, Sickle Cell-beta-thalassemia
- Interventions
- CD34 Stem Cell Selection Therapy
- Biological
- Lead sponsor
- Diane George
- Other
- Eligibility
- Up to 40 Years
- Enrollment
- 37 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2013 – 2030
- U.S. locations
- 1
- States / cities
- New York, New York
- Conditions
- Obstructive Sleep Apnea Syndrome
- Interventions
- OxiplexTS
- Device
- Lead sponsor
- ISS, Inc.
- Industry
- Eligibility
- 21 Years to 55 Years
- Enrollment
- 309 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2007 – 2010
- U.S. locations
- 4
- States / cities
- Orange, California • Stanford, California • Chicago, Illinois + 1 more
- Conditions
- Ciliopathy
- Interventions
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- 5 Months to 80 Years
- Enrollment
- 374 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2003 – 2021
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF), Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene, Digenic Mutations in GJB2/Gap Junction Beta 6 (GJB6) Genes
- Interventions
- Not listed
- Lead sponsor
- Regeneron Pharmaceuticals
- Industry
- Eligibility
- Up to 7 Years
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2030
- U.S. locations
- 2
- States / cities
- Phoenix, Arizona • Columbus, Ohio
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia, Heme Malignancy, Shwachman Syndrome, Inherited Bone Marrow Failure, Exocrine Pancreatic Insufficiency, WHIM, ELANE, SBDS Gene Mutation, EFL1 Gene Mutation, DNAJC21 Gene Mutation, SRP54 Gene Mutation, Inherited Cancer Syndrome, Inherited Cancer-Predisposing Syndrome, Neutropenia, Severe Chronic, Neutropenia Other, Neutropenia Chronic Benign, Ribosome Alteration, Ribosomopathy, Immune Deficiency, Inherited BMF Syndrome, Inherited Immunodeficiency Diseases, Cognitive Delay, Mild, Myelodysplastic Syndromes, Pancytopenia
- Interventions
- Not listed
- Lead sponsor
- Shwachman-Diamond Syndrome Alliance Inc
- Other
- Eligibility
- Not listed
- Enrollment
- 8,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2088
- U.S. locations
- 1
- States / cities
- Woburn, Massachusetts
- Conditions
- Stargardt Disease, Stargardt Macular Degeneration, Stargardt Macular Dystrophy, Autosomal Recessive Stargardt Disease 1 (ABCA4-related)
- Interventions
- ALK-001
- Drug
- Lead sponsor
- Alkeus Pharmaceuticals, Inc.
- Industry
- Eligibility
- 8 Years to 70 Years
- Enrollment
- 200 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2029
- U.S. locations
- 8
- States / cities
- Phoenix, Arizona • Los Angeles, California • Aurora, Colorado + 5 more
- Conditions
- Autosomal Recessive Polycystic Kidney Disease
- Interventions
- Not listed
- Lead sponsor
- The Cleveland Clinic
- Other
- Eligibility
- 6 Years and older
- Enrollment
- 60 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2024 – 2029
- U.S. locations
- 2
- States / cities
- Cleveland, Ohio • Philadelphia, Pennsylvania
- Conditions
- Adenosine Deaminase Deficiency, Autosomal Recessive Disorder, Immune System Disorder, Purine-Nucleoside Phosphorylase Deficiency, Severe Combined Immunodeficiency, Severe Combined Immunodeficiency With Absence of T and B Cells, X-Linked Severe Combined Immunodeficiency
- Interventions
- Allogeneic Bone Marrow Transplantation, Cyclosporine, Laboratory Biomarker Analysis, Mycophenolate Mofetil, Nonmyeloablative Allogeneic Hematopoietic Stem Cell Transplantation, Total-Body Irradiation
- Procedure · Drug · Other + 1 more
- Lead sponsor
- Fred Hutchinson Cancer Center
- Other
- Eligibility
- Not listed
- Enrollment
- 6 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 1997 – 2018
- U.S. locations
- 1
- States / cities
- Seattle, Washington
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Pseudoxanthoma Elasticum
- Interventions
- INZ-701
- Drug
- Lead sponsor
- Inozyme Pharma
- Industry
- Eligibility
- Up to 1 Year
- Enrollment
- 9 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2023 – 2026
- U.S. locations
- 3
- States / cities
- San Diego, California • Columbus, Ohio • Philadelphia, Pennsylvania
- Conditions
- Alport Syndrome, X-Linked, Alport Syndrome, Autosomal Recessive
- Interventions
- Exaluren
- Drug
- Lead sponsor
- Eloxx Pharmaceuticals, Inc.
- Industry
- Eligibility
- 12 Years and older
- Enrollment
- 24 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2027
- U.S. locations
- 7
- States / cities
- Los Angeles, California • Stanford, California • Denver, Colorado + 4 more
- Conditions
- Thalassemia, Sickle Cell Disease, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome, Chronic-granulomatous Disease, Severe Congenital Neutropenia, Leukocyte Adhesion Deficiency, Schwachman-Diamond Syndrome, Diamond-Blackfan Anemia, Fanconi Anemia, Dyskeratosis-congenita, Chediak-Higashi Syndrome, Severe Aplastic Anemia
- Interventions
- Alefacept
- Drug
- Lead sponsor
- Emory University
- Other
- Eligibility
- Up to 21 Years
- Enrollment
- 3 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2013
- U.S. locations
- 1
- States / cities
- Atlanta, Georgia