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Conditions: G6PD, G6PD Deficiency
Interventions: G6PD assay; Diagnostic Test
Lead sponsor: Baebies, Inc.; Industry
Eligibility: 35 Weeks to 100 Years
Enrollment: 119 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2019 – 2020
U.S. locations: 3
States / cities: Durham, North Carolina • Raleigh, North Carolina • Cleveland, Ohio

Conditions: Sjogren-Larsson Syndrome
Interventions: ADX-629; Drug
Lead sponsor: University of Nebraska; Other
Eligibility: 5 Years to 50 Years
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2026
U.S. locations: 1
States / cities: Omaha, Nebraska

Conditions: Leigh Syndrome, Leigh Disease, Leigh's Necrotizing Encephalopathy, Subacute Necrotizing Encephalomyopathy, Subacute Necrotizing Encephalomyelopathy
Interventions: Not listed
Lead sponsor: The University of Texas Health Science Center, Houston; Other
Eligibility: 0 Days to 100 Years
Enrollment: 200 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2030
U.S. locations: 1
States / cities: Houston, Texas

Conditions: Parkinson Disease
Interventions: LY3884961, Methylprednisolone, Sirolimus; Biological · Drug
Lead sponsor: Prevail Therapeutics; Industry
Eligibility: 35 Years to 80 Years
Enrollment: 32 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2031
U.S. locations: 11
States / cities: Scottsdale, Arizona • Murrieta, California • Englewood, Colorado + 7 more

Conditions: Late Infantile Neuronal Ceroid Lipofuscinosis, Batten Disease
Interventions: Group 1; Other
Lead sponsor: Weill Medical College of Cornell University; Other
Eligibility: 2 Years to 8 Years
Enrollment: 32 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2011 – 2015
U.S. locations: 1
States / cities: New York, New York

Conditions: Phenylketonuria
Interventions: SAR444836; Drug
Lead sponsor: Sanofi; Industry
Eligibility: 18 Years to 65 Years
Enrollment: 32 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2030
U.S. locations: 7
States / cities: San Francisco, California • Aurora, Colorado • Gainesville, Florida + 4 more

Conditions: Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
Interventions: Myozyme; Biological
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 6 Months to 36 Months
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2003 – 2006
U.S. locations: 3
States / cities: Gainesville, Florida • Durham, North Carolina • Cincinnati, Ohio

Conditions: Familial Partial Lipodystrophy
Interventions: Metreleptin; Drug
Lead sponsor: Chiesi Farmaceutici S.p.A.; Industry
Eligibility: 13 Years and older
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2028
U.S. locations: 7
States / cities: Birmingham, Alabama • Boca Raton, Florida • Boston, Massachusetts + 4 more

Conditions: Primary Hyperoxaluria, Primary Hyperoxaluria Type 1 (PH1)
Interventions: Lumasiran; Drug
Lead sponsor: Alnylam Pharmaceuticals; Industry
Eligibility: 0 Years to 5 Years
Enrollment: 18 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2024
U.S. locations: 2
States / cities: Rochester, Minnesota • Houston, Texas

Conditions: Cytomegalovirus Infections, HIV Infections
Interventions: Ganciclovir; Drug
Lead sponsor: Hoffmann-La Roche; Industry
Eligibility: 13 Years and older
Enrollment: 700 participants
Healthy volunteers: Healthy volunteers not accepted
U.S. locations: 19
States / cities: Berkeley, California • Los Angeles, California • San Diego, California + 12 more

Conditions: Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I, Fatty Acid Oxidation Disorder, Hypoxic-Ischemic Encephalopathy
Interventions: Not listed
Lead sponsor: Children's National Research Institute; Other
Eligibility: 7 Years to 18 Years
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2027
U.S. locations: 1
States / cities: Washington D.C., District of Columbia

Conditions: Sanfilippo Syndrome Type B
Interventions: Not listed
Lead sponsor: Shire; Industry
Eligibility: 1 Year to 10 Years
Enrollment: 19 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2013
U.S. locations: 2
States / cities: Oakland, California • Minneapolis, Minnesota

Conditions: Sanfilippo Syndrome Type D
Interventions: Not listed
Lead sponsor: Phoenix Nest; Industry
Eligibility: 12 Months and older
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2024
U.S. locations: 1
States / cities: New York, New York

Conditions: Inherited Metabolic Disorders (IMD)
Interventions: MGTA-456; Drug
Lead sponsor: Magenta Therapeutics, Inc.; Industry
Eligibility: 0 Years to 17 Years
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2021
U.S. locations: 2
States / cities: Minneapolis, Minnesota • Cincinnati, Ohio

Conditions: Transthyretin (TTR) Amyloid Cardiomyopathy
Interventions: Not listed
Lead sponsor: University of Texas Southwestern Medical Center; Other
Eligibility: 30 Years to 80 Years
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2027
U.S. locations: 1
States / cities: Dallas, Texas

Conditions: Hypercholesterolemia, Atherosclerotic Cardiovascular Disease
Interventions: bempedoic acid, placebo; Drug
Lead sponsor: Esperion Therapeutics, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 779 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2018
U.S. locations: 2
States / cities: Clearwater, Florida • Georgetown, Texas

Conditions: Cholesterol Ester Storage Disease (CESD), Lysosomal Acid Lipase Deficiency, LAL-Deficiency
Interventions: sebelipase alfa; Drug
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2017
U.S. locations: 5
States / cities: Eureka, California • Sacramento, California • San Francisco, California + 2 more

Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of, IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11, APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency, HPRT1, OMIM *308000 Lesch-Nyhan Disease, XDH, OMIM *607633, Xanthinuria Type 1, SLC2A9, OMIM *606142 Hypouricemia, SLC22A12, OMIM *607096 Hypouricemia, PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease, PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity, AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia, ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35, ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency, PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency, ADA2, OMIM *607575,Sneddon Syndrome; VAIHS, CAD, *1140120, Developmental and Epileptic Encephalopathy, UPB1, OMIM *606673, Beta-ureidopropionase Deficiency, DPYS, OMIM *613326, Dihydropyrimidinase Deficiency, DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency, DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis), UMPS, OMIM *613891, Orotic Aciduria, NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency, UNG, OMIM *191525, Hyper-IgM Syndrome 5, AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2, Purine-Pyrimidine Metabolism, Metabolic Disease
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Month to 100 Years
Enrollment: 999 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2099
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Lysosomal Acid Lipase Deficiency, Wolman Disease
Interventions: Not listed
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: Not listed
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2013
U.S. locations: 7
States / cities: Los Angeles, California • Palo Alto, California • Minneapolis, Minnesota + 2 more

Conditions: Gaucher's Disease
Interventions: Lysodase; Drug
Lead sponsor: National Institute of Mental Health (NIMH); NIH
Eligibility: Not listed
Enrollment: 18 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1993 – 2001
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Morquio Disease, Mucopolysaccharidosis IV
Interventions: Not listed
Lead sponsor: Nadia Ali, PhD; Other
Eligibility: 18 Years and older
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2013
U.S. locations: 1
States / cities: Decatur, Georgia

Conditions: MPS VI
Interventions: Not listed
Lead sponsor: BioMarin Pharmaceutical; Industry
Eligibility: Not listed
Enrollment: 59 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2013
U.S. locations: 1
States / cities: Oakland, California

Conditions: Glycogen Storage Disease
Interventions: Lingual Muscle Training; Other
Lead sponsor: Duke University; Other
Eligibility: 12 Years and older
Enrollment: 5 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2020
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: MPS IIIB (Sanfilippo Syndrome)
Interventions: Not listed
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: Not listed
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2015
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Search by objective public record fields.

Comparative Evaluation of the FINDER Instrument and FINDER G6PD Cartridge in Adults and Neonates

ADX-629 Therapy for Sjogren-Larsson Syndrome

The International Registry for Leigh Syndrome

Phase 1/2a Clinical Trial of PR001 (LY3884961) in Patients With Parkinson's Disease With at Least One GBA1 Mutation (PROPEL)

Collection of Cerebrospinal Fluid in Healthy Children

A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria

rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)

Open-label Extension Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy

A Study of Lumasiran in Infants and Young Children With Primary Hyperoxaluria Type 1

A Randomized, Double-Blind Study of the Efficacy and Safety of Oral Ganciclovir for the Prevention of CMV Disease in People Infected With the Human Immunodeficiency Virus

Systemic Biomarkers of Brain Injury From Hyperammonemia

Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)

A Natural History Study of Sanfilippo Syndrome Type D

MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT)

Determining the Association of TTR Stabilizing Therapy With Circulating TTR Amyloid Aggregates Over Time in Patients With ATTR-CM: Longitudinal Biomarker Study

Evaluation of Long-Term Efficacy of Bempedoic Acid (ETC-1002) in Patients With Hyperlipidemia at High Cardiovascular Risk

Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype

PEG-Glucocerebrosidase for the Treatment of Gaucher Disease

Psychological Concomitants of Morquio Syndrome (The MAP Study)

Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02

Lingual Muscle Training in Late-Onset Pompe Disease (LOPD)

A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB