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Genomic Uniformed-Screening Against Rare Disease In All Newborns

for
Early Onset Genetic Conditions With Near Complete Penetrance
Location: New York NY
Sponsor: Columbia University

Sex: All

Age: 0

Code: NCT05990179

Recruiting

Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions

for
Rare Genetic Disorders
Location: Chicago IL
Sponsor: BioMarin Pharmaceutical

Sex: All

Age: 0+

Code: NCT02365376

Recruiting

Gene Therapy Communication: Use of a Needs Assessment to Drive Decision-AIDS for Gene Therapy for Rare Diseases (GENETX)

for
Sickle Cell Disease
Location: Memphis TN
Sponsor: St. Jude Children's Research Hospital

Sex: All

Age: 8+

Code: NCT05810181

Recruiting

Artificial Intelligence Guided Echocardiographic Screening of Rare Diseases (EchoNet-Screening)

for
Cardiac Amyloidosis
Location: Los Angeles CA
Sponsor: Cedars-Sinai Medical Center

Sex: All

Age: 18+

Code: NCT05139797

Recruiting

Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin

for
Rett Syndrome
Location: Norcross GA
Sponsor: Center for Rare Neurological Diseases, Norcross, GA

Sex: Female

Age: 2+

Code: NCT02696044

Phase2, Recruiting

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Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease

for
Rheumatic Disease
Location: Bethesda MD
Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Sex: All

Age: 18 - 70+

Code: NCT02504879

Recruiting

OCT in Rare Chorioretinal Diseases

for
Retinal Artery Occlusions, Polypoidal Choroidal Vasculopathy,
Location: Portland OR
Sponsor: Oregon Health and Science University

Sex: All

Age: 7 - 70+

Code: NCT02141308

Recruiting

Monogenic Kidney Stone - Genetic Testing

for
Rare Kidney Stone Diseases
Location: Rochester MN
Sponsor: Mayo Clinic

Sex: All

Age: 0+

Code: NCT03305835

Recruiting

Rare Glycogen Storage Diseases Natural History Study

for
Glycogen Storage Disease, GSD Type 0A, GSD Type 0B, GSD VII,
Location: Durham NC
Sponsor: Duke University

Sex: All

Age: 0 - 70+

Code: NCT06795152

Recruiting

National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases

for
Inherited Ophthalmic Diseases, Hypopigmentation Disorder,
Location: Bethesda MD
Sponsor: National Eye Institute (NEI)

Sex: All

Age: 0 - 70+

Code: NCT06491615

Recruiting

Ontario-wide Cancer TArgeted Nucleic Acid Evaluation

for
Breast Cancer, Lung Cancer, Colorectal Cancer, Melanoma,
Location: Ottawa, Toronto
Sponsor: University Health Network, Toronto

Sex: All

Age: 18+

Code: NCT02906943

Recruiting

Antiangiogenic Therapy for Children With Recurrent Medulloblastoma, Ependymoma, ATRT and Rare CNS Tumors

for
Medulloblastoma Recurrent, Ependymoma Recurrent, ATRT Recurrent,
Location: Grand Rapids MI, Austin TX
Sponsor: Medical University of Vienna

Sex: All

Age: 0 - 19

Code: NCT01356290

Phase2, Recruiting

Biomarker Analysis for GBA Associated Parkinson's Disease

for
Parkinson Disease, Gaucher Disease
Location: Fairfax VA
Sponsor: Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Sex: All

Age: 50+

Code: NCT03811496

Recruiting

International Rare Histiocytic Disorders Registry (IRHDR)

for
Rare Histiocytic Disorders (RHDs),
Location: Boston MA, New York NY, Toronto, Pittsburgh PA,
Sponsor: The Hospital for Sick Children

Sex: All

Age: 0+

Code: NCT02285582

Recruiting

Rare Kidney Stone Consortium Patient Registry

for
Primary Hyperoxaluria, Dent Disease, Cystinuria,
Location: New York NY, Rochester MN
Sponsor: Mayo Clinic

Sex: All

Age: 0 - 70+

Code: NCT00588562

Recruiting

Clinical Study To Further Evaluate The Efficacy Of Dabrafenib Plus Trametinib In Patients With Rare BRAF V600E Mutation-Positive Unresectable or Metastatic Solid Tumors

for
Rare Unresectable or Metastatic BRAF V600E Mutation-positive Solid Tumors,
Location: Washington D.C. DC, Durham NC, Cincinnati OH,
Sponsor: Novartis Pharmaceuticals

Sex: All

Age: 1 - 70+

Code: NCT05868629

Recruiting

Genome Medical Sequencing for Gene Discovery

for
Intellectual Disabilities, Congenital Anomaly, Rare Disorders
Location: Bethesda MD
Sponsor: National Human Genome Research Institute (NHGRI)

Sex: All

Age: 0 - 70+

Code: NCT01087320

Recruiting

Study of High-Precision Evaluation of Molecular ResiduaL Disease Through a PlatfOrm for Cancer TracKing and Interception (SHERLOCK)

for
Breast Cancer, Lung Cancer, Melanoma, Gynecologic Cancer,
Location: Toronto
Sponsor: University Health Network, Toronto

Sex: All

Age: 18+

Code: NCT07524114

Recruiting

NCI Childhood Cancer Data Initiative (CCDI) Led Pediatric, Adolescent, and Young Adult Rare Cancer Registry for Very Rare Solid Tumors

for
Very Rare Tumors, Very Rare Cancers, Other Solid Tumors,
Location: Bethesda MD
Sponsor: National Cancer Institute (NCI)

Sex: All

Age: 0 - 70+

Code: NCT07489378

Recruiting

Observational Study of Responses to Treatments in Advanced Central Nervous System (CNS) Tumors

for
Recurrent CNS Tumors, Brain Cancer, Gliomas,
Location: Bethesda MD
Sponsor: National Cancer Institute (NCI)

Sex: All

Age: 15 - 70+

Code: NCT07374692

Recruiting