scholarly journals Genetic Testing in Natural History Studies: A Review of the Regulatory and Legal Landscape

2021 ◽  
Vol 24 (3-4) ◽  
pp. 75-88
Author(s):  
Andrew Bevan ◽  
Delphine Saragoussi ◽  
Laura Sayegh ◽  
Moira Ringo ◽  
Fiona Kearney
Keyword(s):  
Genetic Testing ◽  
Natural History ◽  
Pharmaceutical Product ◽  
Supplementary Information ◽  
Molecular Biomarker ◽  
Regulatory Pathways ◽  
Pharmaceutical Product Development ◽  
Natural History Studies ◽  
Biomarker Testing

<b><i>Background:</i></b> Natural history (NH) studies, using observational methods, are common in rare and orphan diseases (80% of which have a genetic component). There is profound interest in identifying genetic mutations driving these diseases in these studies to support the formulation of targeted precision medicines. The global regulatory classification of NH studies with novel molecular biomarker collection has not been clearly delineated, presenting researchers with the challenge of determining how these studies are classified and regulated across multiple geographies. <b><i>Objective:</i></b> The aim of this investigation was to conduct a review of regulations related to NH studies and genetic testing to elucidate regulatory pathways to inform clinical researchers in the field. <b><i>Methods:</i></b> Regulatory provisions for NH studies and genetic testing were obtained from Pharmaceutical Product Development (PPD)’s propriety regulatory intelligence database and by surveying the company’s country-specific regulatory experts. A literature search was conducted in the Google Scholar search engine and PubMed for supplementary information. <b><i>Results:</i></b> Nineteen countries were evaluated; 37% classified NH studies with biomarker collection as noninterventional and 26% required regulatory approval (increasing to 47% when molecular biomarker testing was introduced). No regulatory provisions for genetic testing could be identified in 32% of countries, and 58% did not have binding requirements for genetic counseling. <b><i>Conclusion:</i></b> Lack of harmonization of regulations governing NH studies with molecular biomarker collection contributes to the operational complexity of conducting multinational studies in orphan and rare diseases. A set of harmonized international guidelines for these studies would improve efficiency, and this may be on the horizon with the recent adaption of International Conference on Harmonisation (ICH) guideline E18.

An Imaging Approach to Deep Vein Thrombosis and the Lower Extremity Thrombosis Classification

2012 ◽  
Vol 27 (1_suppl) ◽  
pp. 143-148 ◽  
Author(s):  
C W K P Arnoldussen ◽  
C H A Wittens
Keyword(s):  
Clinical Trials ◽  
Deep Vein Thrombosis ◽  
Natural History ◽  
Lower Extremity ◽  
Systematic Approach ◽  
Vein Thrombosis ◽  
Natural History Studies ◽  
Imaging Approach ◽  
Deep Vein

In this article we want to discuss the potential of lower extremity deep vein thrombosis (DVT) imaging and propose a systematic approach to DVT management based on a DVT classification of the lower extremity; the LET classification. Identifying and reporting DVT more systematically allows for accurate stratification for initial patient care, future clinical trials and appropriate descriptions for natural history studies.

scholarly journals Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Peter Witters ◽  
Andrew C. Edmondson ◽  
Christina Lam ◽  
Christin Johnsen ◽  
Marc C. Patterson ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Natural History ◽  
Randomized Study ◽  
Short Term ◽  
Double Blind ◽  
Natural History Study ◽  
Natural History Studies ◽  
Carbohydrate Deficient Transferrin ◽  
Spontaneous Improvement

AbstractA recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement in PMM2-CDG patients. A lack of efficacy of short-term mannose supplementation in multiple prior reports challenge this study’s conclusions. Additionally, some CDG types have previously been reported to demonstrate spontaneous improvement in glycosylated biomarkers, including transferrin. We have likewise observed improvements in transferrin glycosylation without mannose supplementation. This observation questions the reliability of transferrin as a therapeutic outcome measure in clinical trials for PMM2-CDG. We are concerned that renewed focus on mannose therapy in PMM2-CDG will detract from clinical trials of more promising therapies. Approaches to increase efficiency of clinical trials and ultimately improve patients’ lives requires prospective natural history studies and identification of reliable biomarkers linked to clinical outcomes in CDG. Collaborations with patients and families are essential to identifying meaningful study outcomes.

Keys to the Trematoda. Volume II (ed. Jones, A., Bray, R. A. and Gibson, D. I.), pp. 768. Commonwealth Agricultural Bureau International (CABI Publishing), UK and The Natural History Museum, London, UK, 2005. ISBN 0 85199 587 X. £150.00.

Parasitology ◽  
2006 ◽  
Vol 132 (1) ◽  
pp. 153-154
Author(s):  
TOMÁš SCHOLZ
Keyword(s):  
Natural History ◽  
Wide Spectrum ◽  
Animal Health ◽  
Life Cycles ◽  
Huge Number ◽  
History Museum ◽  
Cabi Publishing ◽  
Vertebrate Hosts ◽  
Commonwealth Agricultural Bureau

Trematodes (flukes or digeneans) are by far the most abundant group of parasitic flatworms (Neodermata), and their importance for human and animal health is indisputable. In addition, they exhibit a variety of unique adaptations to parasitism and, probably most remarkably, possess extraordinarily complicated life-cycles. Classification of trematodes represents a very difficult task due to the huge number of existing species and variety of morphological forms, sites of infection within invertebrate and vertebrate hosts and ability to infect a wide spectrum of animals. Therefore, identification of any trematode may represent a problem even for an experienced specialist. This is the reason why I appreciated so much the publication of the first volume of the Keys to the Trematoda in 2002.

scholarly journals Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure

2014 ◽  
Vol 111 (2) ◽  
pp. S115
Author(s):  
JIll Wood ◽  
Stuart Siedman ◽  
Jennifer Siedman ◽  
Paul Levy ◽  
Kyle Brown ◽  
...  
Keyword(s):  
Natural History ◽  
Sanfilippo Syndrome ◽  
Natural History Studies

scholarly journals VIII.—On the calcification of the vertebral centra in sharks and rays

1921 ◽  
Vol 210 (372-381) ◽  
pp. 311-407 ◽  
Keyword(s):  
Natural History ◽  
Research Laboratory ◽  
British Museum ◽  
Imperial College ◽  
Vertebral Centra ◽  
The Subject ◽  
Elasmobranch Fishes ◽  
Fossil State

In this paper are recorded the results of an investigation undertaken at the instance of Dr. A. Smith Woodward for the purpose of ascertaining to what extent the pattern presented by the calcified laminæ of the centrum is of value as an aid to the classification of Elasmobranch fishes, and to the identification of vertebræ found in the fossil state. The subject was dealt with exhaustively in 1879-1885 by Hasse, who, in his monograph ‘Das natürliche System der Elasmobranchier,’ claimed that the differences in the disposition of the calcified laminæ in the various genera and families of Elasmobranchs occur with such constancy and regularity that they may be accepted with confidence as an important factor in taxonomy. During the years, however, that have passed since the publication of this monograph the thesis has come to be looked upon with suspicion, and vertebrate morphologists at the present time do not, as a whole, regard Hasse’s definitions of the Cyclospondyli, Tectospondyli, and Asterospondyli as consistently applicable to the genera and species included by him within those groups. The material studied in the course of the investigation was to a large extent accumulated several years ago (see p. 313), and it was only the superior attraction of Cephalodiscus as a subject of research that prevented the work from being brought to an earlier conclusion. The examination of this accumulated material, and of that more recently acquired, was carried on in the Huxley Research Laboratory of the Imperial College of Science during the winter of 1917 and from May, 1919, to May, 1920, and I hereby acknowledge my great indebtedness to Prof. E. W. MacBride and the administrative officers of the College for the facilities offered there for the prosecution of the work. I have further to thank Prof. MacBride for frequent advice and for valuable suggestions made during the progress of the research. My thanks are also due, and are hereby tendered, to Dr. A. Smith Woodward and Mr. C. Tate Began, of the British Museum (Natural History), for many helpful hints and suggestions. Acknowledgments and thanks for material kindly furnished by various donors are recorded on p. 313.

Characteristics of the gastric pH profiles of unfed and fed cynomolgus monkeys as pharmaceutical product development subjects

2002 ◽  
Vol 24 (1) ◽  
pp. 45-51 ◽  
Author(s):  
Hiromu Kondo ◽  
Tatsuki Shinoda ◽  
Hiroshi Nakashima ◽  
Takashi Watanabe ◽  
Shigeharu Yokohama
Keyword(s):  
Product Development ◽  
Pharmaceutical Product ◽  
Gastric Ph ◽  
Cynomolgus Monkeys ◽  
Pharmaceutical Product Development ◽  
Ph Profiles
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