Dr Porter’s Natural History Trial in America – the Merits of Attending

Our son, William, was diagnosed with NPC just over 5 years ago at the age of 9 months.  Ever since the diagnosis, we have been strong believers in the merits of developing a database containing relevant information about the progress of the disease in patients with NPC.  Therefore we were very excited to read about the natural history trial by Dr Forbes Porter in America.  (“Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, type C”).  We were keen for William to be included on the trial and flew out to Washington last month.  Dr Porter and his clinical nurse, Nicole, sorted out everything for us in America, all we needed to do was book our flights to Washington.  They were easy to get hold of at all times and quick to respond to any queries or questions we had and to put us all at ease.  One such area was Miglustat, and Dr Porter confirmed that patients are not excluded from the natural history trial if they are on Miglustat.

The history data trial that Dr Porter is conducting is aimed at looking for “markers” that he can use for a future drug trial to prove the drugs effectiveness at delaying the onset of the neurological side effects of NPC.  Obviously any future clinical trial will also benefit from the availability of this data.  William was the 17th patient to have the tests done and was the first from the UK (one other family has travelled from outside of the USA as well).  Some of those 17 have been back twice (he would like us to return every 6-9 months until the trial is completed) and two patients have recently attended for the third time.  He is hoping that in 12-18 months he will have accumulated sufficient data on the evolution of key markers.  Dr Porter is pleased with the response so far, but the more patients he sees the more likely he is to find that elusive marker which will enable him to identify the right drug which will buy us all the time we need.

The trial required us to be there from Sunday night until the following Friday with tests being carried out on the Tuesday, Wednesday and Thursday.  Due to our flight being cancelled on the Sunday, we didn’t arrive there until late afternoon on Monday, but Dr Porter and Nicole were able to work around this with us.  The tests are all carried out at the NIH which is a massive campus about 45 minutes from Dulles Airport.  There is a free shuttle that goes there direct from the airport.  There is a Children’s Inn on campus which is where families normally stay which is really convenient.  On this occasion we were put up in a hotel (the cost of  the accommodation is covered by the trial) just up the road but with shuttle services available throughout the day and if necessary on request this wasn’t a problem.  William also had a room allocated to him for the week on the children’s ward within the main building.

William had a number of tests carried out (the costs of which are all covered by the NIH) covering speech and language, neuropsych testing, swallowing, hearing and eyes, most of which are non-invasive and at times even fun!  However, he did have to spend Tuesday night in hospital in preparation to be sedated on Wednesday morning when he had an MRI scan, lumber puncture and further hearing test.  This was certainly the most stressful part of the week and William took time to recover from the sedation.  However, throughout the week it was obvious that William was their number one priority and they emphasised that they were happy to stop or cancel any test that was beyond him at any time.  We also talked to a number of people concerning neurological impacts and nutrition and he had blood tests done.  All the results were made available to us and to anyone else we specified.

As parents we also benefited from spending a week with Dr Porter and his colleagues, who through the trial have met with and spent time with the other NPC patients. In addition to the valuable data gathered in the trial, Dr Porters team are trying to get as much information as possible on the patients to observe common characteristics, problems etc.

It was a long week but William has certainly not suffered any side effects from the experience and whilst we would recommend avoiding August (it was exceptionally hot!!)  we would encourage everyone to consider joining the trial, not only to take advantage of the opportunity of having extensive tests carried out in one place at one time but more importantly to help Dr Porter prove his theory and hopefully start a drug trial within the next 12-18 months.  We actually chose to travel as a family this time (including taking our three year old) but having been there for a week, it certainly would have been feasible for just one parent to manage the week.  The costs once in America are negligible and hopefully we can come up with some way to reduce the costs of the flights to America.  Please don’t let the cost of getting there put you off going.

We certainly will be going back next year and are more than happy to talk to anyone who has any questions or concerns about attending.  You can contact us at sue@roseofmourne.com.

David and Sue French