Treatment Trials

8 Clinical Trials for Various Conditions

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COMPLETED
Registry Study of COAGADEX® Patients With Moderate or Severe Hereditary Factor X Deficiency Undergoing Major Surgery
Description

This is a non-interventional, multicenter, post-marketing registry study in three patients with moderate or severe hereditary FX deficiency, to assess Coagadex administered peri-operatively for hemostatic cover in major surgery during routine post-marketing use.

COMPLETED
A Study Investigating Treatment Factor X in People With Factor X Deficiency
Description

The main objective of the study is to assess the pharmacokinetics of FACTOR X after a single dose of 25IU/kg. The secondary objectives of the study are to assess efficacy and safety of FACTOR X in the treatment of bleeding episodes over at least 6 months.

TERMINATED
Safety & Efficacy of BPL's High Purity FACTOR X in Treatment of Factor X Deficient Subjects Undergoing Surgery
Description

To primary efficacy variable is to assess the presence or absence of excessive blood loss during and after surgery. The secondary efficacy endpoints are as follows: 1. A subjective overall assessment by the investigator of FACTOR X in the control of bleeding during surgery. 2. The incidence of bleeding episodes during treatment with FACTOR X while the subject is at risk of post-operative bleeding, including location and duration. 3. Incremental recovery of FX:C and FX:Ag after the pre-surgery bolus infusion. 4. Assessment of FX:C and FX:Ag levels on each day post-surgery. 5. Assessment of the cumulative weight-adjusted doses of FACTOR X as measured by FX:C (IU/kg body weight) administered to each subject to maintain haemostasis. 6. Assessment of the cumulative doses of FACTOR X as measured by FX:C (IU) administered to each subject to maintain haemostasis. 7. Amount of weight-adjusted FACTOR X as measured by FX:C (IU/kg body weight) administered daily (day of surgery and each post-operative day) to maintain haemostasis.

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
TERMINATED
Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency: Phase 2 Study of Insulin-Like Growth Factor-1
Description

This study will evaluate the safety and effectiveness of insulin-like growth factor-1 (IGF-1) to treat patients with X-linked severe combined immunodeficiency (XSCID). Those who have XSCID lack white blood cells that protect their bodies from invasion by all types of germs. IGF-1 is the main hormone responsible for the body's growth and metabolism. As a medication, IGF-1 is Increlex\[(Trademark)\] (mecasermin), Patients ages 2 to 20 who have not yet begun puberty, have a diagnosis of XSCID, and are shorter than the 3rd percentile for their age may be eligible for this study. This study will last about 3 years, and patients' visits will be scheduled at 3-month intervals. Patients will have a physical history and exam, X-rays, electrocardiogram, blood tests, and body measurements. Patients will take estradiol orally for 2 days, to help avoid false results of growth hormone (GH) levels in blood samples. Then provocation testing is done, with two tests back to back. It determines blood levels of GH and the body's response to testing with drugs called arginine and clonidine. Patients are admitted to the pediatric inpatient unit and will have an intravenous (IV) line placed in the arm. Arginine is given by IV over 30 minutes, and blood samples are taken. Right after arginine testing, the clonidine tablet is given. The IGF-1 generation test is then done to see if the body makes IGF-1 as a product in response to injections of GH for 5 consecutive days. This test does not require that patients are inpatients, but after Day 8, patients must be admitted to the pediatric unit to have blood sampling, start Increlex injections, and start close monitoring of blood sugar levels. They will learn how to do a self-injection and follow other advice. They will complete records about the injection site, symptoms, and side effects-keeping records for at least the first 2 days after going home, with each dose change, and as needed. Patients stick their fingertip and place a small drop of blood on a blood sugar monitoring strip. The strip is put into a glucometer-a small hand-held device to measure the blood sugar level. Patients will be instructed to always have a source of sugar available in case blood sugar is too low. ...

COMPLETED
Lead-in Study to Collect Prospective Efficacy and Safety Data of Current FVIII Prophylaxis Replacement Therapy in Adult Hemophilia A Participants
Description

The aim of this prospective, observational study is to establish a dataset on the frequency of bleeding events, as well as other characteristics of bleeding events and FVIII infusions, in patients with clinically severe hemophilia A receiving prophylactic FVIII replacement therapy as standard of care. The data collected from this study may assist in providing baseline information for comparison to the Spark's investigational hemophilia A gene therapy in future Phase 3 studies.

COMPLETED
Dose-finding Study of SPK-8016 Gene Therapy in Patients With Hemophilia A to Support Evaluation in Individuals With FVIII Inhibitors
Description

SPK-8016 is in development for the treatment of patients with inhibitors to FVIII. This Phase 1/2, open-label, non-randomized, dose-finding study to evaluate the safety, efficacy, and tolerability of SPK-8016 in adult males with severe hemophilia A and no measurable inhibitor against FVIII.

COMPLETED
A Gene Transfer Study for Hemophilia A
Description

This clinical research study is being conducted by Spark Therapeutics, Inc. to determine the safety and efficacy of the factor VIII gene transfer treatment with SPK-8011 in individuals with hemophilia A.

Conditions