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Thinking About Experimental Therapies

Thinking About Experimental Therapies

As many families within the NNPDF membership are currently involved in clinical trials for both disease types: (ie:  Niemann-Pick Disease Type C = NIH/TRND NPC Cyclodextrin & Niemann-Pick Disease Type B = Acid Sphingomyelinase Deficiency (ASMD) Enzyme Replacement Therapy at Mt. Sinai) and both trials are continuing to recruit/search out more participants for both, the NNPDF Central Office created this page page to provide information for those who are thinking about participating in experimental therapies.

Click here for links of interest.

Compassionate Access to Investigational Drugs

“Single Patient Investigational New Drug (IND) Application” or “Compassionate Use” refers to the treatment of a seriously ill patient using a new, unapproved drug when no other treatments are available. For more information click link below.

“Compassionate Use” Access to Investigational Drugs

 Frequently Asked Questions~ Clinical Trials


What Is a Clinical Trial?

It is important to understand that clinical studies are experiments. It typically involves conducting research on human volunteers/participants with the intent to determine if a specific drug or therapy is effective.  The two main types of clinical trials are: a) interventional studies, and b) observational studies.

In a clinical trial, participants receive specific interventions, such as a drug, according to the protocol created by the investigators that guides the trial. The intent is to determine the safety and efficacy of the intervention/observation by monitoring/measuring certain outcomes in the participants.

Clinical trials are sometimes described by phases as described below:

  • Phase 1: The goal in a phase I trial is to determine whether the drug is safe and to find out the effective dose.
  • Phase 2: In Phase 2, the drug is given to a large group of people to see if it is effective and to further evaluate its safety.
  • Phase 3: The drug is given to larger groups of people to confirm its effectiveness, monitor side effects, compare the effects of newer drugs with current treatments, and collect information that will allow the drug or treatment to be used safely.
  • Phase 4: Studies are done after the drug or treatment has been approved and marketed to gather information on the drug’s effect in various populations and any side effects associated with long-term use.

Who sponsors/conducts the Clinical Trial?

A clinical trial is typically sponsored or funded by a pharmaceutical company (in this case Vtesse and Orphazyme) or an institution such as a medical research institution, the National Institutes of Health (NIH) or the European Commission (EC).

A clinical trial is typically conducted by a Principal Investigator (PI) along with a research team who assists with the study. The research team includes doctors, nurses and other health care professionals.

Who can participate in a clinical trial?

The protocol, which guides the study, lists the eligibility requirements to participate in the study. These are listed under the inclusion criteria and exclusion criteria. Examples of eligibility requirements would typically include age of the participant, stage of disease, previous treatment and other medical conditions.

To get the latest information on the protocol and the eligibility requirements for the current trials in NPC, follow the links below:

What is Informed Consent (IC)?

IC is the process in which researchers provide interested participants with information about the clinical study including the risks and potential benefits of the clinical study. The idea is to provide as much information as needed in order for the participant to decide whether he or she wants to enroll into the clinical trial. Note that providing consent is not a contract. A participant can withdraw from the study at any time.

Additional questions to ask/consider

It is important to learn as much as possible about any clinical trial so that you can make an informed decision on whether to participate or not. Below is a list of questions to consider when doing research or to ask the research team about the study.

  • What is being studied?
  • Why do researchers believe the intervention being tested might be effective? In other words, what are the primary and secondary outcomes?
  • How do the possible risks, side effects, and benefits of this trial compare with those of my current treatment?
  • What will I be required to do if I decide to participate?
  • What tests and procedures are involved?
  • How often will I have to visit the hospital or clinic?
  • Will hospitalization be required?
  • How long will the study last?
  • Who will pay for my participation/treatment?
  • Will I be reimbursed for other expenses?
  • What type of long-term follow-up care is part of this trial?
  • If I benefit from the intervention, will I be allowed to continue receiving it after the trial ends? If so, who will pay for it, what will they pay for just the drug or the delivery as well and for how long?
  • Will results of the study be provided to me?
  • Who will oversee my medical care while I am participating in the trial?
  • What kind of prior research has been done to prove the efficacy of the drug?
  • Has this drug been used previously to treat other diseases?  For example, prior to its approval to treat NPC, Zavesca had been approved for Gaucher disease?
  • What are the expected primary and secondary outcomes? e.g. improved swallowing, better gait, increase in life expectancy?
  • What is the dosage?
  • What are the side effects?
  • How will the drug be administered?
  • Are the risks of using this drug known? Are the potential risks understood?
  • Is the proposed treatment part of a formal study (clinical trial)? (Note: please check to determine if it is a formal clinical trial.)
  • Has a plan for follow-up monitoring been defined for participants after the treatment?
  • At which locations will the study be conducted?
  • What is the current phase of the clinical trial? (Note: The further along the clinical trial, the more information is available about dosage and efficacy.)
  • What assurance will I have that the trial results will be published promptly, regardless of trial outcome?
  • Is the involved pharmaceutical company/medical research institution experienced in running a clinical trial?
  • Has the treatment been studied in several different animal models, and especially in one that is thought to mirror how it will act in humans?

This is an exciting and enviable time for the NPC community with several clinical trials currently being discussed. It can be a confusing time too as families try to decipher all of the available information to understand what the trials are about and whether their loved ones a) are eligible, b) whether they want to be involved and c) whether it will be available in their country/location.

Below is a document that is divided into two sections; the section “Clinical Trials” explains what a clinical trial is and provides a list of potential questions to ask as part of your research into the trials, and the section “Clinical Trials Comparison” provides a table comparing the current trials in Niemann Pick Type C.


The “51 and Done” is a committee composed strictly of parents dedicated to providing information and knowledge to the Niemann Pick Type C community on ALL upcoming and future clinical trials. The intent is to ensure parents have objective and relevant information and knowledge to help them decide on the path to take for their loved ones affected by NPC. Please note that the “51 and Done” committee does not engage in the practice of medicine or claim to have medical knowledge. The main purpose of this committee is to provide information and knowledge from publicly available sources.

All material contained in above is for educational and informative purposes only.  It is not intended to substitute medical or professional services nor replace the relationship that exists between patients, their physicians and other health care providers. No action, treatment, independent entities or persons are endorsed and all information is provided without warranty.  Any questions should be referred to your physicians and in particular, any changes in treatment or care should be made in conjunction with your medical team.

Part II – Current Clinical Trial Comparisons Developed by Parent/Patient NPC Trial Recruitment Team


  • Thinking About Experimental TherapiesThis is a document developed by the NNPDF as a resource for those considering participation in a trial………it provides a litany of questions that you should ask/understand prior to taking part in a clinical trial. To read the full text of “For Your Information:  Thinking about Experimental Therapies,” scroll down lower on this page.  The pdf document above is provided for your convenience, should you wish to print it out.

Also, for more information on each of the current clinical trials taking place ~ follow the links below to read about the latest updates:

11/12/13 blg

For Your Information:  Thinking about Experimental Therapies

Should I consider trying an experimental treatment for my child/family member?

As new experimental treatments are emerging for rare diseases, you may be wondering if or when is the right time to think about trying a potential new therapy. You may have questions about the results of laboratory studies using the therapy in animals, and about whether such studies are relevant to use of the therapy in human patients.

This “FYI” is intended to give you a framework for thinking about these issues and for getting the information you need before making your decision about the experimental treatment. Please be aware that in some cases, there may be formal clinical trials for the experimental therapy in question, while in other cases, animal studies may suggest that the drug could have benefit to humans, but no formal studies have yet been done.

Some questions to ask about how animal research translates to use in humans:

Research Questions:

  1. Has the treatment been studied in different animal models, and especially in one that is thought to mirror how it will act in humans?
  2. Is the timing of administration of the drug developmentally similar in animals and humans? For example, if it is critical to deliver the drug early in the animal’s life in order to get results, is it possible to deliver the drug at a comparable age or time (from a developmental perspective) in humans.
  3. Is it known exactly how the compound acts on the body, or do the researchers only see its effects (for example, changes in blood chemicals or in storage of materials) but not understand fully how these things happen?
  4. Have the researchers determined the best dose of the treatment to use in humans – enough to have potentially beneficial effect, but not so much that it will cause problems like toxicity?
  5. Have results of the research studies appeared in peer-reviewed journals? Has the work been successfully repeated by any other laboratories?

Efficacy/Effectiveness Questions:

  1. Do researchers believe that the experimental treatment being tested may be effective in humans? Has it been tested before for another disease?
  2. Does the drug cross the blood-brain barrier, and thus have a potential effect on the developing brain and central nervous system?
  3. Does the drug in question act on all symptoms of the disease, or is it predicted to improve only some aspects of the disease?
  4. Is the intervention expected to be a “cure,” i.e. is it expected to significantly improve all aspects of the disease, or is it a temporary intervention until another, better treatment can be found?

Risk Questions:

  1. Are the risks of use of this drug known, or at least are the potential risks understood?
  2. How do the possible risks, side effects, and benefits in the study compare with my current treatment?
  3. Do the researchers think that the potential benefits warrant the risks involved in participating in the research? Do other independent experts in the field agree with their assessment of the risks and benefits?

Study Format:

  1.  Is the proposed treatment part of a formal study (clinical trial)? Check to see if it is a formal clinical trial.
  2. Does the effect of the experimental treatment last for a long time or a short time? Will multiple or frequent doses be needed to continue the effect of the drug?
  3. Has a plan of follow up monitoring been defined for after the treatment?

Ethical Questions:

  1. Do you understand that this experimental treatment could make things worse?
  2. Who will pay for the experimental treatment?
  3. Do you understand that using this experimental therapy may exclude you from other new treatments in formal clinical trials in the future?
  4. Has the study been reviewed and approved by an Investigational Review Board charged with protecting human research subjects.
  5. Who will pay for emergency medical care if something goes wrong?

When you or your children have a serious progressive disease for which there is only symptomatic relief but no sure or effective treatment, the temptation is to try almost anything, often on the slenderest of evidence, to prolong active life. It is important to remember that genuine medical discoveries are based on years of research performed at universities and pharmaceutical companies. There is a long process that shows first in laboratory studies and then in clinical research that something is safe and will work well.

There is an excellent publication on a website that originates in the United Kingdom. The site is called “Sense about Science” at, and it has a wealth of information. On the left menu at this site, the first tab is “I’ve Got Nothing to Lose.” If you select that, you will be taken to a page where you can download a booklet about “weighing up claims about cures and treatments for long-term conditions.”  The resources listed in the booklet are in the UK, but if you contact us, we can provide similar resources here in the US. We are also looking for a similar booklet published here. Also on the Sense about Science home page, about half way down on the left, is a link to a booklet called “I Don’t Know What to Believe…” which is about how you can ask questions about the scientific information you read in the papers or hear on TV to help you understand if it is valid science.

There are also a number of US government-sponsored sites that can tell you more about formally approved clinical trials and many issues related to trial participation including questions to ask, what has lead up to the trial, how are participants protected, etc. Look to any of the following sites for additional information; each has many links to much about clinical trials.

  • The Basics
  • Finding a Clinical Trial
  • List of Registries
  • Personal Stories
  • For Parents and Children
  • For Health Care Providers
  • Resources for Trial Sites
  • Educational Resources
  • Glossary of Common Terms
  • If You Have a Question
  • In the News

  • What Is a Clinical Study?
  • Clinical Trials
  • Observational Studies
  • Who Conducts Clinical Studies?
  • Where Are Clinical Studies Conducted?
  • How Long Do Clinical Studies Last?
  • Reasons for Conducting Clinical Studies
  • Participating in Clinical Studies
  • Who Can Participate in a Clinical Study?
  • How Are Participants Protected?
  • Relationship to Usual Health Care
  • Considerations for Participation
  • Questions to Ask

  • Clinical trials: questions and answers
  • What is a clinical trial?
  • Should I take part in a clinical trial?
  • How do I take part in a clinical trial?
  • Participating in a trial: questions to ask your doctor
  • How is a clinical trial planned and carried out?
  • Protecting participants in clinical trials
  • Clinical trials education series
  • Protecting human research participants

  • Why Clinical Trials in Children are Important
  • Potential Benefit
  • Informed Consent
  • Making a Decision
  • Withdrawing From a Clinical Trial
  • FDA Encourages Studies in Children

In addition to the information provided here, please don’t hesitate to contact the NNPDF Family Services Coordinator if you need further assistance. We are always happy to help.  

Developed by the NNPDF July 2015

[July 25th, 2015 ~ blg]

Additional Information:

In addition, please note the UK publication from Sense About Science ( titled, “I’ve Got Nothing to Lose.”   It is a thoughtful consideration of issues related to use of experimental therapies. Many resources listed in the booklet are in the UK, but the NNPDF Central Office can help identify similar resources in the U.S.