Treatment Trials

4 Clinical Trials for Various Conditions

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COMPLETED
Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Description

The overall objective of this drug trial is to determine whether the treatment of acute hyperammonemia with N-carbamyl-L-glutamate (NCG, Carglumic acid) in propionic acidemia (PA), methylmalonic acidemia (MMA), late-onset CPS1 deficiency (CPSD) and late-onset Ornithine transcarbamylase deficiency (OTCD) accelerates the resolution of hyperammonemia efficiently and safely. The primary goal is to determine if the study drug (NCG) efficiently reduces ammonia levels following a hyperammonemia episode(s). Secondly, the investigators want to know if treatment with this study drug (NCG) efficiently improves neurologic function, reduces plasma glutamine levels and lessens the duration of hospitalization after each episode of hyperammonemia.

TERMINATED
Hepatocyte Transplantation for Liver Based Metabolic Disorders
Description

The purpose of this research study is to determine whether partial irradiation of the liver and liver cell transplantation can provide help for patients with life-threatening liver-based metabolic diseases who are unlikely to survive without extensive medical therapy or transplant. The goal of this research study is to determine if liver cell transplants can be effective as an alternative to organ transplantation. At the present time, liver cell transplants are experimental and have been done in a limited number of human subjects.

TERMINATED
The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
Description

Objectives: * To study nutrition and immune system problems in people with urea cycle disorders. * To study how people with urea cycle disorders and healthy volunteers respond to standard flu and/or hepatitis A vaccines. * To compare differences in nutrition and immune systems of people with urea cycle disorders with that of healthy volunteers. Eligibility: * Healthy males and females at least 2 years of age who are able to travel to the National Institutes of Health hospital in Bethesda, MD * Males and females at least 2 years of age who have a urea cycle disorder and are able to travel to the National Institutes of Health hospital in Bethesda, MD. Design: For Patients with urea cycle disorder: * Participants will spend 2 to 3 days in the National Institutes of Health hospital for the following tests: * A physical exam and review of medical history * Food log for 3 days before the start of the study * Blood tests * 24-hour urine collection * Resting metabolism test * DEXA scan imaging study of bones and body fat * Participants who are old enough to do certain tasks by themselves (like dressing and eating) can choose to have the following extra tests: * 24-hour metabolic room measurements * BodPod(Registered Trademark) study to measure bones and body fat * Participants may choose to have a flu shot and/ or Hepatitis A shot at the end of the study and will be monitored to check for possible side effects. * Participants will return within 1 to 3 months for follow-up tests/immunizations. For Healthy Volunteers: * Participants will be seen at the outpatient clinics at the National Institutes of Health hospital for up to 2 visits for the following: * Review food log completed 3 days before the start of the study * Blood tests * Participants may choose to have a flu shot and/ or Hepatitis A shot at the end of the study and will be monitored to check for possible side effects. * Participants will return within 1 to 3 months for follow-up tests/immunizations. * Review of second food log completed 3 days before second outpatient visit

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