DOCSLIB.ORG

Page 1 of 303 2020 Basic PDP Prior Authorization Criteria Effective 12/01/2020

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Page 1 of 303 2020 Basic PDP Prior Authorization Criteria Effective 12/01/2020 2020 Basic PDP Prior Authorization Criteria Effective 12/01/2020 You can contact Humana for the most recent list of drugs by calling 1‐800‐281‐6918 or, for TTY users, 711, 7 days a week, from 8 a.m. ‐ 8 p.m. However, please note that the automated phone system may answer your call during weekends and holidays from Apr. 1 ‐ Sept. 30. Please leave your name and telephone number, and we'll call you back by the end of the next business day, or visit Humana.com. This document applies to the following Humana Plans: Plan Market Formulary ID Version S2874004 Region 38 20452 20 S5552004 Region 3 20452 20 S5884101 Region 1 20452 20 S5884102 Region 2 20452 20 S5884103 Region 5 20452 20 S5884104 Region 6 20452 20 S5884105 Region 11 20452 20 S5884106 Region 12 20452 20 S5884107 Region 17 20452 20 S5884108 Region 21 20452 20 S5884109 Region 24 20452 20 S5884110 Region 26 20452 20 Y0040_ GHHJPMNES_C Updated 12/2020 Page 1 of 303 2020 Basic PDP Prior Authorization Criteria Effective 12/01/2020 Plan Market Formulary ID Version S5884111 Region 27 20452 20 S5884112 Region 29 20452 20 S5884113 Region 30 20452 20 S5884114 Region 32 20452 20 S5884115 Region 33 20452 20 S5884116 Region 34 20452 20 S5884131 Region 4 20452 20 S5884132 Region 7 20452 20 S5884133 Region 8 20452 20 S5884134 Region 9 20452 20 S5884135 Region 10 20452 20 S5884136 Region 13 20452 20 S5884137 Region 14 20452 20 S5884138 Region 15 20452 20 S5884139 Region 16 20452 20 S5884140 Region 18 20452 20 S5884141 Region 19 20452 20 S5884142 Region 20 20452 20 Y0040_ GHHJPMNES_C Updated 12/2020 Page 2 of 303 2020 Basic PDP Prior Authorization Criteria Effective 12/01/2020 Plan Market Formulary ID Version S5884143 Region 22 20452 20 S5884144 Region 23 20452 20 S5884145 Region 25 20452 20 S5884146 Region 28 20452 20 S5884147 Region 31 20452 20 Y0040_ GHHJPMNES_C Updated 12/2020 Page 3 of 303 2020 Basic PDP Prior Authorization Criteria Effective 12/01/2020 Off‐Label Prescriber Coverage Drug Name Exclusion Criteria Required Medical Information Age Restrictions Other Criteria Uses Restrictions Duration ABIRATERONE Members with Prostate Cancer (mCRPC). The member Licensed 6 months severe hepatic has metastatic (stage IV) castration‐ Practitioner duration impairment (Child‐ resistant prostate cancer (CRPC). The Pugh Class C). member will be using abiraterone acetate Members that in combination with prednisone. Prostate have experienced Cancer (mCSPC). The member has disease diagnosis of castration‐sensitive prostate progression while cancer plus one of the following on abiraterone scenarios: metastatic (stage IV) disease acetate.Concomita AND is high risk (e.g. Gleason score of 8 or nt use with more, at least three bone lesions, or Erleada, Xtandi, presence of measurable visceral Provenge, metastases) OR Node‐positive (any T, N1) Taxotere or OR localized disease with high risk Jevtana. features (e.g. a PSA level greater than 4 ng per milliliter with a doubling time of less than 6 months, a PSA level greater than 20 ng per milliliter, nodal or metastatic relapse, or adjuvant or neoadjuvant therapy lasting less than 12 months of total ADT and completed at least 12 months previously) that is persistent or recurrent after prior radical prostatectomy and/or radiation therapy. Member will be using abiraterone acetate Y0040_ GHHJPMNES_C Updated 12/2020 Page 4 of 303 2020 Basic PDP Prior Authorization Criteria Effective 12/01/2020 Off‐Label Prescriber Coverage Drug Name Exclusion Criteria Required Medical Information Age Restrictions Other Criteria Uses Restrictions Duration in combination with prednisone and one of the following applies: in combination with LHRH analog (e.g, Lupron, Trelstar) OR has previous bilateral orchiectomy. ACTHAR Diagnostic testing of adrenocortical Licensed MS Initial function: Contraindication or intolerance Practitioner Auth 6 to cosyntropin. West syndrome (infantile months, spasms), Acute exacerbations of multiple MS sclerosis (MS) and other steroid Reauth 6 responsive conditions: Member must be months, experiencing an acute exacerbation of All Other multiple sclerosis or other disease Indication exacerbation. Member has s 6 contraindications or intolerance to months. corticosteroids that are not expected to also occur with repository corticotropin injection. Reauthorization Criteria: There is documented evidence of disease response to treatment as indicated by improvement in symptoms. Y0040_ GHHJPMNES_C Updated 12/2020 Page 5 of 303 2020 Basic PDP Prior Authorization Criteria Effective 12/01/2020 Off‐Label Prescriber Coverage Drug Name Exclusion Criteria Required Medical Information Age Restrictions Other Criteria Uses Restrictions Duration ACTIMMUNE Chronic Granulomatous Disease (CGD): Licensed Plan Year The member has chronic granulomatous Practitioner disease (CGD). The member is using Actimmune to reduce the frequency and severity of infections. Severe Malignant Osteopetrosis: The member has severe malignant osteopetrosis confirmed by biopsy. The member is using Actimmune to delay time to disease progression. ACYCLOVIR The member must have a diagnosis of Licensed Plan year genital herpes OR member has a diagnosis Practitioner duration of non‐life‐threatening mucocutaneous Herpes Simplex Virus (HSV) infection and is immunocompromised. The member has had previous treatment, contraindication, or intolerance with oral acyclovir and one of the following: valacyclovir or famciclovir. Y0040_ GHHJPMNES_C Updated 12/2020 Page 6 of 303 2020 Basic PDP Prior Authorization Criteria Effective 12/01/2020 Off‐Label Prescriber Coverage Drug Name Exclusion Criteria Required Medical Information Age Restrictions Other Criteria Uses Restrictions Duration ADEMPAS Concurrent use Chronic Thromboembolic Pulmonary Licensed Plan Year with nitrates or Hypertension (CTEPH). The member must Practitioner Duration nitric oxide donors have a diagnosis of Chronic in any form. Thromboembolic Pulmonary Concurrent use Hypertension (CTEPH) (WHO Group 4) with specific PDE5 AND The member must have CTEPH inhibitors such as classified as inoperable or sildenafil, tadalafil, persistent/recurrent after surgical vardenafil and treatment (i.e. pulmonary non‐specific PDE endarterectomy). Pulmonary Arterial inhibitors such as Hypertension (PAH). The member must dipyridamole or have a diagnosis of pulmonary arterial theophylline. hypertension (WHO Group 1) confirmed by right heart catheterization. AFINITOR Members that Advanced Renal Cell Carcinoma (RCC). The TSC associated partial Licensed 6 months Angiomyolipoma and have experienced member has a diagnosis of advanced onset seizures: Practitioner duration Tuberous Sclerosis Complex disease /metastatic renal cell carcinoma (stage IV) Member is 2 years of (TSC).The member has a progression while AND the member experienced intolerance age or older. diagnosis of renal on everolimus. on Inlyta (axitinib) or Cabometyx angiomyolipoma and (cabozantinib) as second line therapy tuberous sclerosis complex [e.g., severe hypertension/hypertensive AND Immediate surgery is not crisis, cardiac failure, venous required. Metastatic Breast thromboembolic event within the last 6 Cancer. The member has a months, arterial thromboembolic event diagnosis of hormone Y0040_ GHHJPMNES_C Updated 12/2020 Page 7 of 303 2020 Basic PDP Prior Authorization Criteria Effective 12/01/2020 Off‐Label Prescriber Coverage Drug Name Exclusion Criteria Required Medical Information Age Restrictions Other Criteria Uses Restrictions Duration within the last 12 months, severe receptor‐positive and human hemorrhage, reversible posterior epidermal growth factor leukoencephalopathy, unmanageable receptor 2‐negative fistula/GI perforation, nephrotic metastatic disease AND the syndrome) AND Afinitor (everolimus) is member has been treated given as monotherapy or being given in with endocrine therapy (e.g. combination with Lenvima (lenvatinib). letrozole, anastrozole) within The member has a diagnosis of one year AND The member Subependymal Giant Cell Astrocytoma will use Afinitor (everolimus) (SEGA) associated with tuberous sclerosis in combination with AND The member requires therapeutic exemestane or fulvestrant intervention but is not a candidate for (Faslodex). Tuberous sclerosis curative surgical resection. complex (TSC)‐ associated Neuroendocrine Tumors: The member partial onset seizures [Adults has disease that is unresectable, locally and Pediatrics]: The member advanced or metastatic and one of the has diagnosis of TSC‐ following applies: The member has a associated partial onset diagnosis of progressive neuroendocrine seizures AND Afinitor Disperz tumors of pancreatic origin (PNET) OR The (everolimus tablets for oral member has a diagnosis of progressive, solution) is being used as well differentiated, non‐functional adjunctive therapy. neuroendocrine tumors of gastrointestestinal or lung. Waldenstrom’s macroglobulinemia/Lymphoplasmacytic Lymphoma. The member has a diagnosis Y0040_ GHHJPMNES_C Updated 12/2020 Page 8 of 303 2020 Basic PDP Prior Authorization Criteria Effective 12/01/2020 Off‐Label Prescriber Coverage Drug Name Exclusion Criteria Required Medical Information Age Restrictions Other Criteria Uses Restrictions Duration of recurrent or not responsive to primary treatment or relapsed Waldenstrom’s Macroglobulinemia/Lymphoplasmacytic Lymphoma AND Afinitor (everolimus) will be used as monotherapy. AFINITOR Members that Advanced Renal Cell Carcinoma (RCC). The TSC associated partial Licensed 6 months Angiomyolipoma and DISPERZ have experienced member has a diagnosis of advanced onset seizures:
Load more

Recommended publications
  • Childhood Cerebral X-Linked Adrenoleukodystrophy with Atypical Neuroimaging Abnormalities and a No…
    9/28/2018 Journal of Postgraduate Medicine: Childhood cerebral X-linked adrenoleukodystrophy with atypical neuroimaging abnormalities and a no… Open access journal indexed with Index Medicus & EMBASE Home | Subscribe | Feedback [Download PDF] CASE REPORT Year : 2018 | Volume : 64 | Issue : 1 | Page : 59-63 Childhood cerebral X-linked adrenoleukodystrophy with atypical neuroimaging abnormalities and a novel mutation M Muranjan1, S Karande1, S Sankhe2, S Eichler3, 1 Department of Pediatrics, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India 2 Department of Radiology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India 3 Centogene AG, Schillingallee 68, Rostock, Germany Correspondence Address: Dr. M Muranjan Department of Pediatrics, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra India Abstract Childhood cerebral X-linked adrenoleukodystrophy (XALD) typically manifests with symptoms of adrenocortical insufficiency and a variety of neurocognitive and behavioral abnormalities. A major diagnostic clue is the characteristic neuroinflammatory parieto-occipital white matter lesions on magnetic resonance imaging. This study reports a 5-year 10-month old boy presenting with generalized skin hyperpigmentation since 3 years of age. Over the past 9 months, he had developed right-sided hemiparesis and speech and behavioral abnormalities, which had progressed over 5 months to bilateral hemiparesis. Retrospective analyses of serial brain magnetic resonance images revealed an unusual pattern of lesions involving the internal capsules, corticospinal tracts in the midbrain and brainstem, and cerebellar white matter. The clinical diagnosis of childhood cerebral adrenoleukodystrophy was confirmed by elevated basal levels of adrenocorticotropin hormone and plasma very long chain fatty acid levels. Additionally, sequencing of the ABCD1 gene revealed a novel mutation.
    [Show full text]
  • Nicole Trask, Pharmd, Planning for the 2019 Specialty Drug Spend
    Planning for the 2019 Specialty Drug Spend August 24, 2018 Nicole Trask, PharmD Clinical Consultant Pharmacist University of Massachusetts – Clinical Pharmacy Services Disclosure for Nicole Trask I have no actual or potential conflict of interest in relation to this presentation. Budget Impact Modeling for 2 ||August 24, 2018 the Specialty Drug Spend Objectives • Identify high-impact specialty pipeline drugs expected to reach the market in 2019-2020 • Summarize efficacy data for high-impact specialty pipeline drugs and indicate their anticipated place in therapy • Compare specialty pipeline drugs to currently available therapeutic options • Predict the budgetary impact of specialty pipeline drugs and discuss strategies to mitigate costs Budget Impact Modeling for 3 ||August 24, 2018 the Specialty Drug Spend Identifying High-Impact Drugs Two key drivers • Clinical impact • Efficacy/effectiveness • Therapeutic alternatives • Economic impact • Cost • Volume Budget Impact Modeling for 4 ||August 24, 2018 the Specialty Drug Spend Assessing Clinical Impact Clinical trial data Therapeutic alternatives • Placebo-controlled, • Me-too drug vs. head-to-head studies first-in-class • Adverse events • Market competition • Potential drug-drug • Consensus interactions guidelines • Target population • Patient willingness to use medication Budget Impact Modeling for 5 ||August 24, 2018 the Specialty Drug Spend Assessing Economic Impact Cost Volume • NADAC, AWP, WAC • Prevalence/incidence of • Supplemental rebate disease • Outcomes-based • Frequency of contracts administration • Value assessments • Duration of therapy (e.g., AHRQ, ICER, PCORI) AHRQ=Agency for Healthcare Research and Quality, AWP=average wholesale price, ICER=Institute for Clinical and Economic Review, NADAC=national average drug acquisition cost, PCORI=Patient-centered Outcomes Research Institute, WAC=wholesale acquisition cost Budget Impact Modeling for 6 ||August 24, 2018 the Specialty Drug Spend Other Factors Affecting Budget Impact Disease-specific Prescriber-specific • Chronic vs.
    [Show full text]
  • Rett Syndrome: Coming to Terms with Treatment
    Hindawi Publishing Corporation Advances in Neuroscience Volume 2014, Article ID 345270, 20 pages http://dx.doi.org/10.1155/2014/345270 Review Article Rett Syndrome: Coming to Terms with Treatment Alan Percy Civitan International Research Center, University of Alabama at Birmingham, 1720 2nd Avenue South, CIRC 320E, Birmingham, AL 35294-0021, USA Correspondence should be addressed to Alan Percy; [email protected] Received 5 January 2014; Accepted 26 February 2014; Published 10 April 2014 Academic Editor: Ronald L. Klein Copyright © 2014 Alan Percy. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Rett syndrome (RTT) has experienced remarkable progress over the past three decades since emerging as a disorder of worldwide proportions, particularly with discovery of the linkage of RTT to MECP2 mutations. The advances in clinical research and the increasing pace of basic science investigations have accelerated the pattern of discovery and understanding. Clinical trials are ongoing and others are planned. A review of these events and the prospects for continued success are highlighted below. The girls and women encountered today with RTT are, overall, in better general, neurologic, and behavioral health than those encountered earlier. This represents important progress worldwide from the concerted efforts of a broadly based and diverse clinical and basic research consortium as well
    [Show full text]
  • Pelizaeus-Merzbacher Disease (Pmd)
    PELIZAEUS‐MERZBACHER DISEASE (PMD) is a X‐linked disease that is transmitted from normal appearing carrier mothers to their sons. Each male born to these mothers has a 50/50 chance of being affected with PMD. Each female child born to them has a 50/50 chance of being a carrier herself. Having more than one affected child, with a disease that there is only 50/50 of, I know sounds impossible, but I did the same thing! You have to realize it's a 50/50 chance with every pregnancy. One way to possibly describe this is to take a deck of cards, remove all 4 aces. Let the 2 red ones represent females, the ace of hearts could represent a non‐carrier female, the ace of diamonds could represent a carrier female. Let the 2 black ones represent males, the ace of clubs could represent a non‐affected male, the ace of spades could represent an affected male. With each pregnancy you have a 1 in 4 chance of having an affected son. Turn the 4 cards face down and draw one, if it should be the ace of spades (affected male), you can't say, "I have already had my affected one", and exclude it from the next pregnancy. With each pregnancy you have to "draw" from all 4 "cards". This disease affects the myelin sheath, that insulates the nerves of the central nervous system. These nerve fibers, called axons, carry impulses from the brain to other parts of the body. The axons are similar to an electrical wire, the myelin is like insulation that covers them.
    [Show full text]
  • X-Linked Diseases: Susceptible Females
    REVIEW ARTICLE X-linked diseases: susceptible females Barbara R. Migeon, MD 1 The role of X-inactivation is often ignored as a prime cause of sex data include reasons why women are often protected from the differences in disease. Yet, the way males and females express their deleterious variants carried on their X chromosome, and the factors X-linked genes has a major role in the dissimilar phenotypes that that render women susceptible in some instances. underlie many rare and common disorders, such as intellectual deficiency, epilepsy, congenital abnormalities, and diseases of the Genetics in Medicine (2020) 22:1156–1174; https://doi.org/10.1038/s41436- heart, blood, skin, muscle, and bones. Summarized here are many 020-0779-4 examples of the different presentations in males and females. Other INTRODUCTION SEX DIFFERENCES ARE DUE TO X-INACTIVATION Sex differences in human disease are usually attributed to The sex differences in the effect of X-linked pathologic variants sex specific life experiences, and sex hormones that is due to our method of X chromosome dosage compensation, influence the function of susceptible genes throughout the called X-inactivation;9 humans and most placental mammals – genome.1 5 Such factors do account for some dissimilarities. compensate for the sex difference in number of X chromosomes However, a major cause of sex-determined expression of (that is, XX females versus XY males) by transcribing only one disease has to do with differences in how males and females of the two female X chromosomes. X-inactivation silences all X transcribe their gene-rich human X chromosomes, which is chromosomes but one; therefore, both males and females have a often underappreciated as a cause of sex differences in single active X.10,11 disease.6 Males are the usual ones affected by X-linked For 46 XY males, that X is the only one they have; it always pathogenic variants.6 Females are biologically superior; a comes from their mother, as fathers contribute their Y female usually has no disease, or much less severe disease chromosome.
    [Show full text]
  • X Linked Adrenoleukodystrophy: Clinical Presentation, Diagnosis, and Therapy
    4 Journal of Neurology, Neurosurgery, and Psychiatry 1997;63:4–14 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.63.1.4 on 1 July 1997. Downloaded from REVIEW X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy Björn M van Geel, Johanna Assies, RonaldJAWanders, Peter G Barth Abstract that has its onset in adulthood, was first X linked adrenoleukodystrophy (X-ALD) reported in 1976.4 Now, at least six diVerent is an inherited disorder of peroxisomal phenotypes are recognised.5 Not only men are metabolism, biochemically characterised aVected: in the early 1980s it was shown that by accumulation of saturated very long female carriers are at risk for developing chain fatty acids. Accumulation of these neurological deficits as well.6 fatty acids is associated with cerebral In 1976 the accumulation of saturated very demyelination, peripheral nerve abnor- long chain fatty acids (VLCFAs) in brain lipids malities, and adrenocortical and testicu- and adrenal cortex of patients with X-ALD was lar insuYciency. The lowest estimated reported.78 In 1980 raised concentrations of birth incidence is one per 100 000. At least VLCFAs were shown in cultured skin 9 10 six phenotypes can be distinguished, of fibroblasts and in 1981 in plasma, thus Department of which the two most frequent are child- providing a reliable biochemical diagnostic Neurology, Academic hood cerebral ALD and adrenomyelo- test. In 1984 a defect in peroxisomal metabo- Medical Center, 11 neuropathy. The X-ALD gene has been lism was suggested, and shortly thereafter the University of defective enzyme activity in peroxisomal Amsterdam, PO Box identified, but thus far no relation between â-oxidation of VLCFAs was discovered.12 13 In 22700, 1100 DE genotype and phenotype has been found.
    [Show full text]
  • Transporters
    Alexander, S. P. H., Kelly, E., Mathie, A., Peters, J. A., Veale, E. L., Armstrong, J. F., Faccenda, E., Harding, S. D., Pawson, A. J., Sharman, J. L., Southan, C., Davies, J. A., & CGTP Collaborators (2019). The Concise Guide to Pharmacology 2019/20: Transporters. British Journal of Pharmacology, 176(S1), S397-S493. https://doi.org/10.1111/bph.14753 Publisher's PDF, also known as Version of record License (if available): CC BY Link to published version (if available): 10.1111/bph.14753 Link to publication record in Explore Bristol Research PDF-document This is the final published version of the article (version of record). It first appeared online via Wiley at https://bpspubs.onlinelibrary.wiley.com/doi/full/10.1111/bph.14753. Please refer to any applicable terms of use of the publisher. University of Bristol - Explore Bristol Research General rights This document is made available in accordance with publisher policies. Please cite only the published version using the reference above. Full terms of use are available: http://www.bristol.ac.uk/red/research-policy/pure/user-guides/ebr-terms/ S.P.H. Alexander et al. The Concise Guide to PHARMACOLOGY 2019/20: Transporters. British Journal of Pharmacology (2019) 176, S397–S493 THE CONCISE GUIDE TO PHARMACOLOGY 2019/20: Transporters Stephen PH Alexander1 , Eamonn Kelly2, Alistair Mathie3 ,JohnAPeters4 , Emma L Veale3 , Jane F Armstrong5 , Elena Faccenda5 ,SimonDHarding5 ,AdamJPawson5 , Joanna L Sharman5 , Christopher Southan5 , Jamie A Davies5 and CGTP Collaborators 1School of Life Sciences,
    [Show full text]
  • Estimating the Financial Impact of Gene Therapy*
    medRxiv preprint doi: https://doi.org/10.1101/2020.10.27.20220871; this version posted October 31, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license . Estimating the Financial Impact of Gene Therapy∗ Chi Heem Wong†, Dexin Li‡, Nina Wang‡, Jonathan Gruber§, Rena Conti¶, Andrew W. Lo‖ This Revision: October 15, 2020 Abstract We assess the potential financial impact of future gene therapies by identifying the 109 late-stage gene therapy clinical trials currently underway, estimating the prevalence and incidence of their corresponding diseases, developing novel mathematical models of the increase in quality-adjusted life years for each approved gene therapy, and sim- ulating the launch prices and the expected spending of these therapies over a 15-year time horizon. The results of our simulation suggest that an expected total of 1.09 million patients will be treated by gene therapy from January 2020 to December 2034. The expected peak annual spending on these therapies is $25.3 billion, and the total spending from January 2020 to December 2034 is $306 billion. We decompose their annual estimated spending by treated age group as a proxy for U.S. insurance type, and consider the tradeoffs of various methods of payment for these therapies to ensure patient access to their expected benefits. Keywords: Gene Therapy; Drug Pricing; Cost Effectiveness; Health Technology Assessment JEL Codes: I11, I13, I18 ∗We thank Sarah Antiles and Nora Yang for assisting with the preparation of data.
    [Show full text]
  • New Diagnostic Criteria for Infantile Nystagmus. an Upgraded
    Nasser. Int J Ophthalmol Clin Res 2015, 2:6 International Journal of ISSN: 2378-346X Ophthalmology and Clinical Research Original Article: Open Access New Diagnostic Criteria for Infantile Nystagmus. An Upgraded Nystagmus Clinical Approach Nadim Nasser* Department of Pediatrics, Clalit Health Organization services, Israel *Corresponding author: Nadim Nasser, Department of Pediatrics, Clalit Health Organization services, Kofr Smei’, (Kisra-Smei’), m. box: 201, area code 20138, Israel, Tel: 0144-9978585, +972 523 743 134, Fax: 01449570127, +01446882320, E-mail: [email protected] Introduction Abstract Noticeable ‘Congenital nystagmus’, or ‘infantile irreversible Purpose: CEMAS group has classified nystagmus comprehensively in 2001. From that time, attempts to make the subject as uniform congenital nystagmus’ (ICN), continues to be a broad and incompletely as possible, needed continuous upgrading. This manuscript is an defined subject at all its supposed aspects [1]. The reason, apparently, upgraded clinical approach for diagnosis of Irreversible Congenital is that previous proposed classifications for nystagmus diagnosis so Nystagmus, which is in addition to its being one of the major clinical far, are not enough to cover the whole of the existing etiologies. This features of intrinsic ocular diseases, is also a sign of inborn errors demonstrates the need to upgrade protocols for the diagnosis of this of myelination. medical issue. Design: We will accompany the way to the diagnosis of congenital The National Eye Institute’s Classification of Eye Movement irreversible nystagmus of non-intrinsic eye disease origin, by Abnormalities and Strabismus (CEMAS) was published in 2001, highlighting all the symptoms and signs, which lead us to ascertain the exact etiologies, despite the important past classifications of based on diagnosing nystagmus according to eye movements’ nystagmus.
    [Show full text]
  • Leukodystrophies by Raphael Schiffmann MD (Dr
    Leukodystrophies By Raphael Schiffmann MD (Dr. Schiffmann, Director of the Institute of Metabolic Disease at Baylor Research Institute, received research grants from Amicus Therapeutics, Protalix Biotherapeutics, and Shire.) Originally released January 17, 2013; last updated November 25, 2016; expires November 25, 2019 Introduction Overview Leukodystrophies are a heterogeneous group of genetic disorders affecting the white matter of the central nervous system and sometimes with peripheral nervous system involvement. There are over 30 different leukodystrophies, with an overall population incidence of 1 in 7663 live births. They are now most commonly grouped based on the initial pattern of central nervous system white matter abnormalities on neuroimaging. All leukodystrophies have MRI hyperintense white matter on T2-weighted images, whereas T1 signal may be variable. Mildly hypo-, iso-, or hyperintense T1 signal relative to the cortex suggests a hypomyelinating pattern. A significantly hypointense T1 signal is more often associated with demyelination or other pathologies. Recognition of the abnormal MRI pattern in leukodystrophies greatly facilitates its diagnosis. Early diagnosis is important for genetic counseling and appropriate therapy where available. Key points • Leukodystrophies are classically defined as progressive genetic disorders that predominantly affect the white matter of the brain. • The pattern of abnormalities on brain MRI, and sometimes brain CT, is the most useful diagnostic tool. • Radial diffusivity on brain diffusion weighted imaging correlates with motor handicap. • X-linked adrenoleukodystrophy is the most common leukodystrophy and has effective therapy if applied early in the disease course. • Lentiviral hemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy shows promise. Historical note and terminology The first leukodystrophies were identified early last century.
    [Show full text]
  • Adeno-Associated Virus 8-Mediated Gene Therapy for Choroideremia: Preclinical Studies in in Vitro Ind in Vivo Models
    University of Pennsylvania ScholarlyCommons Publicly Accessible Penn Dissertations 2015 Adeno-Associated Virus 8-Mediated Gene Therapy for Choroideremia: Preclinical Studies in in Vitro ind in Vivo Models Aaron Daniel Black University of Pennsylvania, [email protected] Follow this and additional works at: https://repository.upenn.edu/edissertations Part of the Genetics Commons, Ophthalmology Commons, and the Virology Commons Recommended Citation Black, Aaron Daniel, "Adeno-Associated Virus 8-Mediated Gene Therapy for Choroideremia: Preclinical Studies in in Vitro ind in Vivo Models" (2015). Publicly Accessible Penn Dissertations. 1014. https://repository.upenn.edu/edissertations/1014 This paper is posted at ScholarlyCommons. https://repository.upenn.edu/edissertations/1014 For more information, please contact [email protected]. Adeno-Associated Virus 8-Mediated Gene Therapy for Choroideremia: Preclinical Studies in in Vitro ind in Vivo Models Abstract Choroideremia (CHM) is a slowly progressive X-linked retinal degeneration that results ultimately in total blindness due to loss of photoreceptors, retinal pigment epithelium, and choroid. CHM, the gene implicated in choroideremia, encodes Rab escort protein-1 (REP-1), which is involved in the post- translational activation via prenylation of Rab proteins. We evaluated AAV8.CBA.hCHM, a human CHM encoding recombinant adeno-associated virus serotype 8 (rAAV8) vector, which targets retinal cells efficiently, for therapeutic effect and safety in vitro and in vivo in a murine model of CHM. In vitro studies assayed the ability of the vector to produce functional REP-1 protein in established cell lines and in CHM patient derived primary fibroblasts. Assays included Western blots, immunofluorescent labeling, and a REP-1 functional assay which measured the ability of exogenous REP-1 to prenylate Rab proteins.
    [Show full text]
  • Progressive Spastic Paraparesis in a Young Male
    POL ANN MED. 2018;25(1):134–138 Polish Annals of Medicine journal homepage: https://www.paom.pl Case report Progressive spastic paraparesis in a young male Tomasz Matyskieła, Beata Zwiernik, Jacek Zwiernik, Marta Nobis, Agnieszka Rakowska, Tomasz Siwek, Marta Gimeła-Dargiewicz Department of Neurology and Neurosurgery, School of Medicine, Collegium Medicum, University of Warmia and Mazury in Olsztyn, Poland ARTICLE INFO ABSTRACT Article history Introduction: Adrenoleukodystrophy (ALD) is a hereditary genetic disease Received 27 April 2017 linked to the X chromosome. It is caused by mutations in ABCD1, a gene that codes Accepted 26 September 2017 for ALD protein, a peroxisomal membrane protein of unclear function. A very large Available online 5 March 2018 spectrum of symptoms, as well as different degrees of intensity among the members of the same family may be a serious diagnostic challenge. Keywords Adrenoleukodystrophy Aim: To examine current views with respect to ALD pathogenesis and treat- Adrenomyeloneuropathy ment methods and to present the case of its specific variant: adrenomyeloneu- Spastic paraparesis ropathy. Additionally, we wish to direct attention to the possibility of such a diagnosis in each patient (including women) with progressive paraparesis. Doi 10.29089/2017.17.00028 Case study: We present the case of a 29-year-old male patient with progressi- ve paraparesis. The implemented diagnostics procedures (neuroimaging studies User license and levels of very long chain fatty acids) led to a correct diagnosis: adrenomy- This work is licensed under a eloneuropathy. Creative Commons Attribution – NonCommercial – NoDerivatives Results and discussion: Symptomatology as well as diagnostic and thera- 4.0 International License.
    [Show full text]