- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts 1, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus-Merzbacher-Like Disease, 1, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome
- Interventions
- Not listed
- Lead sponsor
- Children's Hospital of Philadelphia
- Other
- Eligibility
- Up to 18 Years
- Enrollment
- 236 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2024
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
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 are retrieved from ClinicalTrials.gov and synchronized into the directory. Search pages remain noindex by default.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Showing 25–35
of 11
matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease, GM1 Gangliosidosis, Gaucher Disease, Lysosomal Acid Lipase Deficiency, Metachromatic Leukodystrophy, Mucopolysaccharidosis II, Mucopolysaccharidosis III-B, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Niemann-Pick Disease, Type C
- Interventions
- Confirmatory Testing
- Diagnostic Test
- Lead sponsor
- Albert Einstein College of Medicine
- Other
- Eligibility
- Up to 4 Weeks
- Enrollment
- 100,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2021 – 2029
- U.S. locations
- 9
- States / cities
- Brooklyn, New York • Manhasset, New York • New York, New York + 2 more
- Conditions
- Niemann-Pick Type C Disease
- Interventions
- Nizubaglustat, Placebo
- Drug
- Lead sponsor
- Azafaros B.V.
- Industry
- Eligibility
- 4 Years and older
- Enrollment
- 72 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2027
- U.S. locations
- 5
- States / cities
- Oakland, California • Minneapolis, Minnesota • Rochester, Minnesota + 2 more
- Conditions
- GM1 Gangliosidoses, GM2 Gangliosidoses, Tay-Sachs Disease, Sandhoff Disease
- Interventions
- miglustat, Ketogenic Diet
- Drug · Other
- Lead sponsor
- University of Minnesota
- Other
- Eligibility
- Up to 204 Months
- Enrollment
- 16 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2019
- U.S. locations
- 1
- States / cities
- Minneapolis, Minnesota
- Conditions
- Lysosomal Storage Diseases
- Interventions
- Enzyme assay and molecular sequencing
- Diagnostic Test
- Lead sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
- Other
- Eligibility
- Not listed
- Enrollment
- 100,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2016 – 2019
- U.S. locations
- 1
- States / cities
- Fairfax, Virginia
- Conditions
- G(M2) Ganglioside, Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside
- Interventions
- Pyrimethamine
- Drug
- Lead sponsor
- Exsar Corporation
- Industry
- Eligibility
- 18 Years and older
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- Started 2008
- U.S. locations
- 2
- States / cities
- New York, New York • Cleveland, Ohio
- Conditions
- GM1 Gangliosidosis
- Interventions
- Not listed
- Lead sponsor
- University of Pennsylvania
- Other
- Eligibility
- Not listed
- Enrollment
- 31 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2024
- U.S. locations
- 2
- States / cities
- Oakland, California • Philadelphia, Pennsylvania
- Conditions
- Hurler Syndrome (MPS I), Hurler-Scheie Syndrome, Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III), Krabbe Disease (Globoid Leukodystrophy), Metachromatic Leukodystrophy (MLD), Adrenoleukodystrophy (ALD and AMN), Sandhoff Disease, Tay Sachs Disease, Pelizaeus Merzbacher (PMD), Niemann-Pick Disease, Alpha-mannosidosis
- Interventions
- hematopoietic stem cell infusion
- Biological
- Lead sponsor
- Talaris Therapeutics Inc.
- Industry
- Eligibility
- Not listed
- Enrollment
- 3 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2011 – 2016
- U.S. locations
- 1
- States / cities
- Durham, North Carolina
- Conditions
- Lysosomal Diseases, Gangliosidosis, GM1
- Interventions
- AAV9-GLB1, Abdominal ultrasound, Rituximab, Sirolimus, Methylprednisolone, Prednisone, Audiology assessment with ABR, Bone density scan (DEXA), Electrocardiogram (EKG), Echocardiogram, Electroencephalogram (EEG) awake and extended overnight, Laboratory tests, Lumbar puncture, Brain MRI/MRS/fMRI, Neurocognitive testing, Neurology exam, PICC or other Central line placement, Skeletal survey, Skin biopsy, Speech and modified barium swallow study, Ophthalmology exam
- Biological · Procedure · Drug + 3 more
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- 6 Months to 12 Years
- Enrollment
- 54 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2028
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Lysosomal Storage Diseases, Inborn Errors of Metabolism
- Interventions
- ALD-601
- Biological
- Lead sponsor
- Joanne Kurtzberg, MD
- Other
- Eligibility
- 18 Years and older · Female only
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2009 – 2017
- U.S. locations
- 2
- States / cities
- Durham, North Carolina
- Conditions
- Tay-Sachs Disease, Porphyria, Erythropoietic, Leukodystrophy, Globoid Cell, Metabolism, Inborn Errors
- Interventions
- Not listed
- Lead sponsor
- National Center for Research Resources (NCRR)
- NIH
- Eligibility
- 0 Years and older
- Enrollment
- 50 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- Started 1999
- U.S. locations
- 1
- States / cities
- New York, New York