Recommendations for the Future

There should be an international database of AHC patients, and that database should be available to any researcher who wants to study this disorder. At present, there are several small databases belonging to various investigators and probable overlap, so that an individual patient may be included in more than one database. A subcommittee was set up to discuss and design the most suitable types of data to be included in the database. Input from investigators interested in AHC, but not present in the workshop (for example, Dr. Vigevano, Dr. Mikati and others) will be sought. The final database should be coded in order to protect the privacy of the patients and families, but should be accessible on the internet. * In addition to the blood cell bank which Dr. Louis Ptacek would like to initiate, there would be the awareness that when patients with AHC expire, the brain and body tissue is a valuable resource for research and should be stored in one of the number of tissue banks in various parts of the USA and other countries. * Genetic studies aimed at searching for a chromosomal abnormality should be given the highest priority for research funding, and the work should begin as soon as possible. A genetics task force including Dr. Ptacek, Dr. Garbern and Dr. Eva Andermann was appointed, and it was emphasized that these investigators should collaborate with each other in the genetic project. The skills required for the genetics studies are not easily available to the other participants of the workshop who should serve as facilitators of this project by making patients and blood specimens available. * There has to be some organized efforts to test the efficacy of new medications in the treatment of AHC. Dr. Mary Zupanc is very interested in drug trials and volunteered to organize the trials. The specific protocols can be followed locally by various participants and the results reported to Dr. Zupanc for analysis. There are many medications which have been tried and found not to be effective in the treatment of AHC, but these ‘failures’ are rarely reported in the neurology journals. The AHC organization should send a questionnaire to all pediatric neurologists asking them which medications they have tried on their AHC patients and which have not been effective or have actually made the children worse. This information is extremely important to obtain so that the children will not have to be subjected to drugs that are not effective for their symptoms and that cause side effects. This will prevent unnecessary suffering and false hopes.

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