Treatment Trials

9 Clinical Trials for Various Conditions

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TERMINATED
In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM)
Description

The investigators aims to evaluate the safety of in utero hematopoietic stem cell transplantation in fetuses with alpha-thalassemia major performed at the time of in utero transfusion of red blood cells.

RECRUITING
International Registry of Patients With Alpha Thalassemia
Description

This is an international prospective registry of patients with Alpha thalassemia to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with Alpha thalassemia.

RECRUITING
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
Description

FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases. Patients participate in the study by electronic consent (eConsent) and sign a medical records release to permit data collection. Medical records are accessed from institutions directly via eFax or paper fax, online from patient electronic medical record (EMR) portals, direct from DNA/RNA sequencing and molecular profiling vendors, and via electronic health information exchanges. Patients and their treating physicians may also optionally provide medical records. Medical records are received in or converted to electronic/digitized formats (CCDA, FHIR, PDF), sorted by medical record type (clinic visit, in-patient hospital, out-patient clinic, infusion and out-patient pharmacies, etc.) and made machine-readable to support data annotation, full text searches, and natural language processing (NLP) algorithms to further facilitate feature identification.

RECRUITING
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
Description

This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft failure and to aid in immune reconstitution following hematopoietic stem cell transplantation.

RECRUITING
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
Description

The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant (BMT) or peripheral blood stem cell transplant (PBSCT) in patients with non-malignant disorders that are amenable to treatment with hematopoietic stem cell transplant (HSCT). After transplant, subjects will be followed for late effects and for ongoing graft success.

TERMINATED
Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
Description

This is a study to collect the outcomes of stem cell transplantation for patients with hematologic diseases other than cancer.

RECRUITING
AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
Description

Children, adolescents, and young adults with malignant and non-malignant conditionsundergoing an allogeneic stem cell transplantation (AlloSCT) will have the stem cells selected utilizing α/β CD3+/CD19+ cell depletion. All other treatment is standard of care.

RECRUITING
Tissue Repository Providing Annotated Biospecimens for Approved Investigator-directed Biomedical Research Initiatives
Description

To collect, preserve, and/or distribute annotated biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and preventative methods for specific and complex conditions.

ENROLLING_BY_INVITATION
Early Check: Expanded Screening in Newborns
Description

Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.

Conditions
Spinal Muscular AtrophyFragile X SyndromeFragile X - PremutationDuchenne Muscular DystrophyHyperinsulinemic Hypoglycemia, Familial 1Diabetes MellitusAdrenoleukodystrophy, NeonatalMedium-chain Acyl-CoA Dehydrogenase DeficiencyVery Long Chain Acyl Coa Dehydrogenase DeficiencyBeta-ketothiolase DeficiencySevere Combined Immunodeficiency Due to Adenosine Deaminase DeficiencyPrimary Hyperoxaluria Type 1Congenital Bile Acid Synthesis Defect Type 2Pyridoxine-Dependent EpilepsyHereditary Fructose IntoleranceHypophosphatasiaHyperargininemiaMucopolysaccharidosis Type 6Argininosuccinic AciduriaCitrullinemia, Type IWilson DiseaseMaple Syrup Urine Disease, Type 1AMaple Syrup Urine Disease, Type 1BBiotinidase DeficiencyNeonatal Severe Primary HyperparathyroidismIntrinsic Factor DeficiencyUsher Syndrome Type 1D/F Digenic (Diagnosis)Cystic FibrosisStickler Syndrome Type 2Stickler Syndrome Type 1Alport Syndrome, Autosomal RecessiveAlport Syndrome, X-LinkedCarbamoyl Phosphate Synthetase I Deficiency DiseaseCarnitine Palmitoyl Transferase 1A DeficiencyCarnitine Palmitoyltransferase II DeficiencyCystinosisChronic Granulomatous DiseaseCerebrotendinous XanthomatosesMaple Syrup Urine Disease, Type 2Severe Combined Immunodeficiency Due to DCLRE1C DeficiencyThyroid Dyshormonogenesis 6Thyroid Dyshormonogenesis 5Supravalvar Aortic StenosisFactor X DeficiencyHemophilia AHemophilia BTyrosinemia, Type IFructose 1,6 Bisphosphatase DeficiencyGlycogen Storage Disease Type IG6PD DeficiencyGlycogen Storage Disease IIGalactokinase DeficiencyMucopolysaccharidosis Type IV AGalactosemiasGuanidinoacetate Methyltransferase DeficiencyAgat DeficiencyGlutaryl-CoA Dehydrogenase DeficiencyGtp Cyclohydrolase I DeficiencyHyperinsulinism-Hyperammonemia SyndromePrimary Hyperoxaluria Type 23-Hydroxyacyl-CoA Dehydrogenase DeficiencyLong-chain 3-hydroxyacyl-CoA Dehydrogenase DeficiencyMitochondrial Trifunctional Protein DeficiencySickle Cell DiseaseBeta-ThalassemiaHolocarboxylase Synthetase Deficiency3-Hydroxy-3-Methylglutaric AciduriaPrimary Hyperoxaluria Type 3Hermansky-Pudlak Syndrome 1Hermansky-Pudlak Syndrome 4Apparent Mineralocorticoid ExcessHSDBCBAS1Mucopolysaccharidosis Type 2Mucopolysaccharidosis Type 1Severe Combined Immunodeficiency, X LinkedSevere Combined Immunodeficiency Due to IL-7Ralpha DeficiencyDiabetes Mellitus, Permanent NeonatalIsovaleric AcidemiaSevere Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder)Jervell and Lange-Nielsen Syndrome 2Hyperinsulinemic Hypoglycemia, Familial, 2Diabetes Mellitus, Permanent Neonatal, With Neurologic FeaturesJervell and Lange-Nielsen Syndrome 1Lysosomal Acid Lipase DeficiencyCblF3-Methylcrotonyl CoA Carboxylase 1 Deficiency3-Methylcrotonyl CoA Carboxylase 2 DeficiencyWaardenburg Syndrome Type 2AMethylmalonic Aciduria cblA TypeMethylmalonic Aciduria cblB TypeMethylmalonic Aciduria and Homocystinuria Type cblCMAHCDMethylmalonic Aciduria Due to Methylmalonyl-CoA Mutase DeficiencyCongenital Disorder of Glycosylation Type 1BMthfr DeficiencyMethylcobalamin Deficiency Type Cbl G (Disorder)Methylcobalamin Deficiency Type cblEUsher Syndrome, Type 1BN-acetylglutamate Synthase DeficiencyOrnithine Transcarbamylase DeficiencyPhenylketonuriasWaardenburg Syndrome Type 1Congenital HypothyroidismPropionic AcidemiaUsher Syndrome, Type 1FPancreatic Agenesis 1Hereditary Hypophosphatemic RicketsGlycogen Storage Disease IXBGlycogen Storage Disease IXCMOWSEpilepsy, Early-Onset, Vitamin B6-DependentPyridoxal Phosphate-Responsive SeizuresPituitary Hormone Deficiency, Combined, 1PtsdDihydropteridine Reductase DeficiencySevere Combined Immunodeficiency Due to RAG1 DeficiencySevere Combined Immunodeficiency Due to RAG2 DeficiencyRetinoblastomaMultiple Endocrine Neoplasia Type 2BPseudohypoaldosteronism, Type ILiddle SyndromeBiotin-Responsive Basal Ganglia DiseaseSCDDIAR1GSD1CAcrodermatitis EnteropathicaThyroid Dyshormonogenesis 1Riboflavin Transporter DeficiencyWaardenburg Syndrome, Type 2ESRDCongenital Lipoid Adrenal Hyperplasia Due to STAR DeficiencyBarth SyndromeAdrenocorticotropic Hormone DeficiencyTranscobalamin II DeficiencyThyroid Dyshormonogenesis 3Segawa Syndrome, Autosomal RecessiveAutosomal Recessive Nonsyndromic Hearing LossThyroid Dyshormonogenesis 2ACongenital Isolated Thyroid Stimulating Hormone DeficiencyHypothyroidism Due to TSH Receptor MutationsUsher Syndrome Type 1CUsher Syndrome Type 1G (Diagnosis)Von Willebrand Disease, Type 3Combined Immunodeficiency Due to ZAP70 DeficiencyAdenine Phosphoribosyltransferase DeficiencyMetachromatic LeukodystrophyCanavan DiseaseMenkes DiseaseCarbonic Anhydrase VA DeficiencyDevelopmental and Epileptic Encephalopathy 217 Alpha-Hydroxylase DeficiencySmith-Lemli-Opitz SyndromeKrabbe DiseaseGlutathione Synthetase DeficiencyMucopolysaccharidosis Type 7Rett SyndromeMolybdenum Cofactor Deficiency, Type ANiemann-Pick Disease, Type C1Niemann-Pick Disease Type C2Ornithine Aminotransferase Deficiency3-Phosphoglycerate Dehydrogenase DeficiencyLeber Congenital Amaurosis 2Dravet SyndromeMucopolysaccharidosis Type 3 AOrnithine Translocase DeficiencyCarnitine-acylcarnitine Translocase DeficiencyGlucose Transporter Type 1 Deficiency SyndromeCreatine Transporter DeficiencyNiemann-Pick Disease Type APitt Hopkins SyndromeTuberous Sclerosis 1Tuberous Sclerosis 2Ataxia With Isolated Vitamin E DeficiencyAngelman SyndromePrader-Willi SyndromeHomocystinuriaPermanent Neonatal Diabetes MellitusTransient Neonatal Diabetes MellitusFactor VII DeficiencyGlycogen Storage Disease Type IXA1Glycogen Storage Disease, Type IXA2Glycogen Storage Disease ICGlycogen Storage Disease Type IBCentral Hypoventilation Syndrome With or Without Hirschsprung Disease