Alkaptonuria (AKU) Frequently Asked Questions

Here are some of the most frequently asked questions and their answers:

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Alkaptonuria (AKU) Patient Groups

These are patient organisations that have experience and expertise in Alkaptonuria (AKU) . They are supporters of this website. Contact them for more information on their activities.

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  AKU Society UK

  The AKU Society is a UK registered charity (no. 1101052) dedicated to the support of people diagnosed with a rare genetic disease, Alkaptonuria (AKU). It was set up in 2003 by a patient and his doctor in Liverpool. This initial patient/doctor relationship has become a core principle to the society. Today we retain that through supporting patients with AKU and promoting research into understanding AKU’s progression and treatment.

  Contact AKU Society UK
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  Alcaptonurie France

  L'Association pour la Lutte Contre l'Alcaptonurie est une association caritative qui a pour buts de: * Apporter un soutien aux patients et leur permettre de se rencontrer. * Diffuser l'information sur la maladie et sensibiliser les professionnels de la santé. * Promouvoir la recherche médicale. * Collecter des fonds pour réaliser ces buts. * Mettre en relation les patients avec les médecins, généticiens et biologistes compétents.

  Contact Alcaptonurie France
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  findAKUre

  findAKUre is an international partnership involving patient organisations and research groups. We set up findAKUre to foster ground-breaking scientific research and patient partnership in order to drive forward our quest for a cure to AKU. findAKUre is growing rapidly from its origins in the UK to include scientists and patients from across Europe, North America and the Middle East. Indeed, our team in Jordan has identified 40 patients in a single village, including nine in a single family, which is why we are stepping up our work there. We are also increasingly interacting with industry in order to plan clinical trials of promising new treatments. Our aims are to: * Provide the latest high quality scientific information about AKU. * Support AKU patients and their families. * Recruit scientists and clinicians and to promote their research into the causes, effects and treatments of AKU. * Help medical professionals find the best way to support new AKU patients. * Ultimately, to bring together all the resources needed to find a cure to AKU. If you are an AKU scientist, clinician, industrialist or patient, please do get in touch with Dr Nicolas Sireau, Chairman of the AKU Society, at nick@akusociety.org.

  Contact findAKUre
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  L’aim AKU

  L' Associazione L’aimAKU è un’associazione di volontariato che opera per: * Riunire tutti i malati di alcaptonuria, le loro famiglie, e tutti coloro che intendono contribuire alla lotta contro questa malattia, favorendo incontri fra loro e con esperti. * Promuovere le iniziative volte a migliorare le condizioni di salute dei pazienti e la qualità della vita degli stessi, dei lori familiari e dei caregiver. * Sensibilizzare le autorità sanitarie alla necessità di potenziare l’attività preventiva, curativa e riabilitativa per l’alcaptonuria. * Promuovere iniziative di informazione alla pubblica opinione sulle complicazioni invalidanti dell’alcaptonuria e sulle esigenze dei malati e delle loro famiglie. * Promuovere campagne di raccolta fondi per far acquisire all’associazione i mezzi finanziari utili all’espletamento delle sue funzioni e promuovere ogni iniziativa che valga a potenziare l’attività dell’associazione stessa. * Promuovere la ricerca scientifica nel campo dell’alcaptonuria. * Informare i pazienti sui progressi della ricerca scientifica nel campo dell’alcaptonuria. * Richiedere la collaborazione di società scientifiche che operano nell’interesse dei malati affetti da alcaptonuria. * Promuovere il collegamento con altre associazioni nazionali ed internazionali che perseguono gli stessi scopi. * Promuovere la realizzazione di centri ad alta specialità per la cura dell’alcaptonuria. * Intraprendere tutte le iniziative necessarie per il raggiungimento degli scopi associativi.

  Contact L’aim AKU
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  AKU Society of North America

  The AKU Society of North America is a non-profit organization that focuses on improving the quality of life of AKU patients and their families by providing education, resources, and opportunities for interaction for patients, families, and physicians associated with alkaptonuria (AKU). The Society will raise funds for support of research, education, and meetings to advance knowledge of the disease and possibilities for treatment of AKU. Funds will be raised through solicitation of donations and application for grants.

  Contact AKU Society of North America

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Alkaptonuria (AKU) Documents

Resources, documents and detailed informations on Alkaptonuria (AKU) . In this section you can download brochures, ask for printed documents or find useful links.

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  Rare Disease Reviews – Alkaptonuria

  Summary article on Alkaptonuria in PDF format.

  Author/Foundation: Oliver Timmis

  Year of publication: 2011, English

  Download
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  AKU Study Compilation of Sample Patient Costs

  10 May 2011, .pdf file

  Author/Foundation: Michael Craig, AKU Society Volunteer

  Year of publication: 2011, English

  Download
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  WHAT ALKAPTONURIA PATIENTS NEED TO KNOW ABOUT NITISINONE (ORFADIN®, NTBC)

  Introduction This article is designed to give people suffering from Alkaptonuria (AKU) a patient’s viewpoint on what Nitisinone is, why it is a possible treatment for AKU and what is known about the effects from using it over a long period. I’ve referenced some websites in this article. Please note I have no control over the contents of these sites, neither do I have any connection, either commercial or otherwise, with them and therefore neither endorse nor recommend them (apart from the website for the AKU Society, of which I am a member).

  Author/Foundation: AKU Society UK

  Year of publication: 2011, English

  Download
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  LETTRE D’INFORMATION N° 14 (SEPTEMBRE 2011)

  Cette lettre est diffusée par courrier postal ou internet aux personnes atteintes d’Alcaptonurie-Ochronose, à leurs familles, aux amis et aux membres de l’ALCAP, aux donateurs, aux médecins et chercheurs, et à toute personne qui s’intéresse à l’Alcaptonurie en France, en Belgique et en Suisse.

  Author/Foundation: ALCAP

  Year of publication: 2011, French

  Download
• 

  Degenerative Arthritis of the Knee Secondary to Ochronosis

  Bulletin of the NYU Hospital for Joint Diseases 2011;69(4):331-4

  Author/Foundation: Obafunto Abimbola, B.S., Greg Hall, B.S., and Joseph D. Zuckerman, M.D.

  Year of publication: 2011, English

  Download

Alkaptonuria (AKU) Articles

Most recent articles:

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Alkaptonuria (AKU) Events

Most recent events:

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• May 2012

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  6th European Conference on Rare Diseases & Orphan Products (ECRD 2012)

  From 23 to 25 May 2012

  MCE Conference Centre in Brussels, Belgium

  More info

• June 2012

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  European Human Genetics Conference 2012

  From 23 to 26 June 2012

  Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims, particularly those working in Europe. The Society will encourage and seek to integrate research and its translation into clinical benefits and professional and public education in all areas of human genetics.

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• November 2012

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  62nd Annual Meeting of the American Society of Human Genetics (ASHG)

  From 6 to 9 November 2012

  "We have 24 invited slots available and anticipate receiving over 120 proposals. We encourage you to provide as much information as possible in order to assist the Program Committee in their decision making. The ASHG 2012 Program Committee encourages the submission of debate or panel style sessions on thought-provoking or controversial topics."

  More info