Ask the Mito Doc – December 2023; Q&A

Ask the Mito Doc – December 2023 Q&A

Wrapping Up 2023 with the Mito Docs




Dr. Amy Goldstein, MD, Children’s Hospital of Philadelphia

Dr. Austin Larson, MD, Children’s Hospital, Colorado

Dr. Divakar Mithal, MD, Children’s Hospital, Chicago

Dr. Russell Saneto, DO, PhD, Seattle Children’s

Dr. Jennifer Yang, MD, UC San Diego



Q: Are there any trial drugs for MELAS? (Seattle, WA area)

A: Russell Saneto, DO, PhD: We have been sending our patients to Baylor for their trials at present.

A: Austin Larson, MD: Some MELAS patients will qualify for one or more of the ongoing industry sponsored trials as well (as well as some upcoming trials that may start recruiting in the next year or so).


Q: Where does the drug for MELAS with Cyclerion/Tison stand as far as clinical trial? Any hope for the near future?

A: Austin Larson, MD: My understanding is that they are in the design phase for the next clinical trial and that their drug is in active development.

A: UMDF EDU/Kara Strittmatter: We held a Clinical Trial Update webcast this past week and Tisentos was part of it. They provided a nice update – here is the recording link:


Q: Do many mitochondrial disorders turn out to have an immunological dysfunction mechanism?

A: Austin Larson, MD: There are a few mito disorders with overt phenotypes of immunodysregulation or immunodeficiency, but those are quite rare. Dr. Peter McGuire at the NIH is doing research to identify subtler aspects of immunodysregulation in patients with some of the more common mito diseases.


Q: With the amazing recent news about CRISPR being approved and DddA gene editing do you think there could be improvements in treatments for mito?

A: Austin Larson, MD: There is some early preclinical research into gene editing for some mitochondrial disorders (cell or animal models). I do think that there is a significant possibility of these technologies being relevant for mito patients in the future, but this research is currently in the pre-clinical phase.


Q: At what point in the workup will a muscle biopsy be ordered for a new patient?

A: Austin Larson, MD: Speaking for myself, I will typically obtain broad nuclear gene sequencing and mtDNA sequencing as the first tier test. If that test is nondiagnostic and there is still a high clinical suspicion for mito disease then a muscle biopsy is certainly a consideration as a second or third tier test in the diagnostic evaluation.


Q: Why do I need genetic testing? I was diagnosed by muscle biopsy.

A: Austin Larson, MD: There’s a lot of answers to that. Genetic testing helps us to understand the specific mechanism of disease. The most concise way to say that so we know. Muscle biopsies can indicate mitochondrial dysfunction in a wide variety of different conditions and a lot of them aren’t primary mitochondrial diseases. So particularly as we move into the era of having a fair number of clinical trials available in really needing to carefully define the mechanisms of mitochondrial disease. Genetic testing is the best way that we have to identify not just mitochondrial dysfunction in general, but very specific mechanisms of mitochondrial disease that would allow us to group patients together that have similar mechanisms of disease, and might benefit from the same therapy and also who would be expected to have the same natural history or the same progression of that condition so then the clinical trial results might be interpretable. So that’s one really important reason for genetic testing.


Q: 1. When can we get KSS (Kearns-Sayre Syndrome) kids on elamipretide, Probucol, etc, on compassionate use?  2. What is the newest research regarding therapeutics for KSS patients? 3. Is Minovia bringing their trial to the states? What is on the horizon for KSS therapies?

A: Russell Saneto, DO, PhD: Minovia is doing a Pearson syndrome mitochondrial transfer, but the study is a Phase I/II and you have to go to Israel for the study. I would imagine that it will evolve into a KSS study down the road.


Q: How can we get KSS kids on elamipretide, Probucol, etc. on compassionate use?

A: Amy Goldstein, MD: They need to be seen at a center that can offer these specific medications and ask for them; not all centers can offer them and there are specific criteria to be able to access them.


Q: Does CHOP offer these medications?

A: Amy Goldstein, MD: We have a program for elamipretide; trying to start one for Probucol.


Q: Dr. Goldstein, Can you get children who see you on elamipretide?

A: Amy Goldstein, MD: Elamipretide is provided through Stealth Biotherapeutics. When we apply for the medication through them, the application includes the justification of progressive symptoms, so when we have PT measurements or our surveys (quality of life, fatigue scales) that show decline, they take these factors into account. Age is not an issue for compassionate use. We advocate strongly for our patients for this medication.


Q: I didn’t quite get what you said, Dr. G, when do you think elamipretide could be approved?

A: Amy Goldstein, MD: The FDA needs to review elamipretide for Barth syndrome at this time and then the data being collected now in the trial for mitochondrial myopathy.


Q: Dr. Goldstein and anyone else — How many children/adults are you aware of who are on elamipretide on a compassionate use basis? Are those patients followed in terms of gathering info for research?

A: Russell Saneto, DO, PhD: The boys with Barth syndrome would be a disease that patients have been given elamipretide on a compassionate use basis.


Q: What is gene therapy? When will we get it? What are the roadblocks?

A: Divakar Mithal, MD: The first thing to say about Gene therapy is that there is an FDA approved gene therapy for a non mitochondrial disorder and that’s exciting. That means that we are moving into an era where we can deliver a gene to a human being and fix a genetic deficiency that works for spinal muscular atrophy. With Mito diseases it is more complicated. Generally speaking, gene therapy refers to the delivery of a gene that is not currently part of the human being who you’re giving it to. That gene will get taken up by the cells of that human being and begin to get expressed, theoretically replacing some genetic deficiency. You need to know what the genetic deficiency is. First you need a diagnosis, and then you need to have some way of delivering that gene to the human being in a way that will allow it to get expressed in the cells where it has to get expressed. In our case we’re interested in mitochondria and fixing the problem with the mitochondria. Currently there are no gene therapies for mitochondrial disease. There are a number of different groups around the country who are interested in developing gene therapies.  The hope is that more gene therapies come online for all different diseases.


Q: Are you saying that older diagnosed patients cannot be helped?

A: Divakar Mithal, MD: Our current model for gene therapy may not be the best model for helping older mitochondrial patients. That could change. However, other therapies that are non-genetic that may be helpful. Age isn’t the only consideration!


Q: I know of several children with KSS who, as they’ve gotten older, have developed symptoms typically seen with autism spectrum disorders…extreme sensory sensitivities, OCD features, (psychological/behavioral) rigidity. These are kids / young adults who did not have these issues when younger. I don’t see anything written about this and am curious if it is recognized among mito doctors. If this is familiar to you, how do you address these problems?     

A: Jennifer Yang, MD: We see a spectrum of neurodevelopmental abnormalities in mitochondrial disease. In severe cases, I like to involve our neurodevelopmental specialists as well. Both behavioral therapies and pharmacotherapy are used.


Q: I recently had a cardiac arrest. Would a discussion about a pacemaker with my cardiologist be worth exploring? I know a fair amount of KSS patients have pacemakers.

A: Austin Larson, MD: Speaking generally, many patients with KSS do need pacemakers for heart block and other arrhythmias.


Q: Why are recommended treatments not universal across all mito docs and clinics?

A: Russell Saneto, DO, PhD: There are good clinical trials proving the betterment of patients with supplements. Supplement use is also patient/disease specific. So, there are no cookie cutter patients so individual use and combination are needed.


Q: With regard to supplements, what is the difference between one brand and the next? Candidly, I have been buying ‘known’ brands, but based on this week’s pricing.  I have never noticed a difference in the effect of one over another. Am I missing something?

A: Amy Goldstein, MD: Supplements are not regulated; the difference is pricing and branding. Probably not much difference in quality to be honest.


Q: Regarding supplements, which ones should we take? Is this important to the general Mito public to consider? And are there any new supplements out there? I read a lot about methylation.

A: Russell Saneto, DO, PhD: That’s a dicey question because there are a lot of supplements that have been used over the years. I think we kind of rely on, and what we use, is the CHOP data. So we tend to use antioxidants and Vitamin E. And if there’s muscle involvement, acetylcysteine. Other than that it depends if you’re deficient in any of the supplements. So for instance, some people are deficient in carnitine, so we would add carnitine. If you have an iron problem then that becomes a little bit more that we would use more supplements to act as antioxidants, because we want to prevent an oxygen radical damage produced by ferroptosis. In addition to vitamin E, we would make sure that your selenium is at high-normal therapeutic values. We may at that point also add Coenzyme Q10. But it depends on the type of mito disease you have, and who, you see, we all have our favorite cocktails. But whoever you see on this panel, and whoever’s been on this panel in the past, you’ll get their own version of what they think is essential for the mitochondrial cocktail. We do add folic acid to certain types of mitochondrial diseases, routinely like Kearns-Sayres or pulmonary scammer diseases because those have been found to have decreased folic acid within the central nervous system space. And we use a drug called Leucovorin, which crosses the blood vein barrier, so in that case we’re supplementing methylation to the central nervous system. If you have a deficiency in a methylation enzyme then, of course we probably would.


Q: What are the top 5 things I should do for overall health with a Mito condition?

A: Divakar Mithal, MD: I’ll preface this, instead of giving you an exact top 5, which I will also do, that is to just say that, generally speaking, I often find myself counseling people to be healthy, and that sounds really crazy but the truth of the matter is that for mitochondrial patients, paying really close attention to the things that keep people healthy are very important. I’m sure all of us have slightly different things that we’re biased towards.

  1. Maintaining excellent nutrition and hydration. Making sure that you have access, whether it’s by mouth or however you’re getting fed. Really excellent balanced nutrition. There are discussions about what the makeup of the nutrition should be, but I’m talking about at least getting the correct amount of calories and coupling that with really excellent hydration.
  2. Health prevention. There’s a lot of debate as to whether or not vaccines are safe for patients with mitochondrial disease. Without touching too much onto what the data is one way or the other, there’s not a tremendous amount of evidence to say vaccines are dangerous, but we do know that getting sick, especially for preventable illnesses, is something that can derail mitochondrial patients. I like my patients to be up to date with their vaccines as much as possible in order to try to prevent illnesses that are preventable. Look, kids get sick. Adults get sick. Everybody gets sick just from being around. But that’s one of the ways that I try to encourage health prevention. 3. Physical Activity/Muscle health. There’s a fine balance here for patients that fatigue easily, but overall muscle health. So staying active, engaging in physical therapy if needed. For patients that are not ambulatory, I think therapies are really important to keep the joints from contracting or becoming flexed, and also for bone health. Because for patients that are in a wheelchair they can get thin bones over time. So physical activity is important, and if that has to be coupled with therapy.
  3. Sleep Hygiene. I’m a pediatric neurologist, but I think sleep is critical. It’s not specific to mitochondrial patients, but I’ve seen that a lot of my patients just really struggle. If they’re having sleep problems that often get missed, and those sleep problems can be for a variety of things. There might be an actual sleep disorder that needs to be diagnosed. But even before you get to that, just having good sleep hygiene; going to bed around the same time, waking up around the same time, getting appropriate amount of sleep for younger children. That’s more than people realize. Even up to the age of 8, 9, or 10 years old you should be getting 10 to 11 hours of sleep, and that’s really hard to do with schools and things like that. I think for mitochondrial patients, that can contribute to fatigue in ways that we don’t really clearly state. 5. Avoid unnecessary medical interventions and procedures. That’s a tough thing to say, but I think there’s a desire to pursue things that may help and there is often a cost associated with those things. And so not knowing what you’re putting in your body, whether it’s something that doesn’t have any evidence to support it, or something that’s not FDA approved, or going through a procedure that doesn’t have evidence to support.


Q: Hi Dr. Mithal, You mentioned that unnecessary medical procedures should be avoided.  Does this include IVig infusion where the genetic cause is uncertain, and it is not known whether the mutations that have been detected have an immunological mechanism?

A: Divakar Mithal, MD: Hi – this is a very difficult question. I would have to know more details about the specific case to weigh in on this. There may be good reasons to give IVIG, but it has to be followed very closely by a team with a lot of experience using this medication.


Q: Should we update our genetic testing? Almost 25 years ago (I) had it done.

A: Austin Larson, MD: It depends on the result. Some patients have genetic testing from 25 years ago that are still relevant today. Other patients might benefit from updated genetic testing if there was an ambiguous or nondiagnostic result previously.


Q: Hi, any suggestions for someone undiagnosed, with a VUS on genetic testing?

A: Jennifer Yang, MD: It depends on what type of genetic testing. If VUS on a panel, I suggest whole exome or whole genome. Make sure it’s a test with mitochondrial DNA sequencing and deletion as well. If all of those are done, if it has been 2 years since testing, consider re-analysis. There are other ways to evaluate mitochondrial function as well including fibroblast analysis or muscle biopsy.


Q: Testing was through GeneDx Xome Dx Plus test- Exome. It has been 2 years, so physician just submitted for re-analysis.  I don’t believe it includes deletion.

A: Russell Saneto, DO, PhD: GeneDx Xome is a nuclear gene sequencing platform. It does not sequence the mitochondrial genome. You have to do a separate gene sequencing.


Q: What is the best path forward for those that have been unable to get a diagnosis with the genetic test? And then part 2, Is there anything new coming in the genetic testing world that might help these folks?

A: Amy Goldstein, MD: So it really depends on what genetic test we were talking about.  There are a lot of genetic tests that are still available out there. And so the first thing that we need to do is assess what genetic test was done. Some of the patients that come to us have had a genetic test that includes a chromosomal micro or a panel based test. They’ve had a mitochondrial panel which doesn’t include the most comprehensive genetic testing available yet today. So we first have to see what’s been done. Some of our patients have had whole exome sequencing that maybe didn’t include mitochondrial DNA sequencing. So we have to fill in what has been and what hasn’t been done yet. For some patients, whole genome sequencing might be the next appropriate step. For some patients, not all,  muscle biopsy may be the next appropriate step. We really have to think about it. And that might be a team approach. There are still centers that have an undiagnosed disease network. And so for some patients that remain undiagnosed, the next best step may be referring to an undiagnosed disease program or network that may be at another center or back to something like the NIH and so we always have to keep in mind what programs are still open. Sometimes different programs are at different centers.

A: Russell Saneto, DO, PhD: You know, I think the gene testing space is still evolving. I know that we are trying to do gene sequencing, using long read PCR instead of short read exome sequencing. But for those of us who are in that space there are certain genes that you can’t get a good sequence from using long reads. And so you actually have to use short reads like the histocompatibility genes, you have to use short reads to get a good sequence on those. Using long reads and short reads becomes very expensive.


Q: Another question for any of the doctors, my exome testing came back negative and muscle biopsy showed CPT2. I am on Medicare and there is no genome sequencing testing covered. Is it worth getting the genome sequencing if I have to pay out of pocket?

A: Austin Larson, MD: The symptoms of CPT2 deficiency are fairly specific – recurrent rhabdomyolysis – if specifically is not the symptom then you probably need to look elsewhere. Exome sequencing can be obtained for $800 out of pocket, genome is generally about twice that out of pocket cost. Your doctor can advise you about what the expected diagnostic yield might be in your specific scenario and whether the cost is worth it in your scenario or not.


Q: Are the diseases with single large-scale deletions thought of very differently from other types of mito re: treatment and research?

A: Russell Saneto, DO, PhD: In treatment of symptoms, not really. But, I think that as new ideas of treatment will flux into this disease sooner than in some others. But certainly symptom treatments are very similar to other mitochondrial diseases.


Q: When my child was diagnosed ten years ago, I was told that it was an exciting time for mito research and drug development – that there was much hope for what was coming to help patients within the next ten years. Not to be negative, but it’s ten years later and I don’t believe that anything has translated into differences in the way that my son’s KSS is treated. How are things different now than ten years ago — what are newly diagnosed families being told now in the way of hopefulness/research? Will the next ten years be different?

A: Russell Saneto, DO, PhD: Science has a way of moving at a snail pace for a while then the findings accelerate in a short time. For instance, gene therapy for LHON. I do think that treatment for Pearson/KSS/PEO due to single large deletions will have a significant treatment in the near future. The work started at Minovia in Israel, and what has been happening with autologous mitochondria transfer in stroke and cardiomyopathy will move into this treatment space.


Q: For patients that are on TPN, how do you differentiate whether elevated amino acid in a blood test are the result of a metabolic condition or from being on TPN?

A: Austin Larson, MD: In our practice here, we will turn off the protein component of TPN for about 3-4 hours prior to testing in order to have an interpretable result.


Q: Can one patient have multiple forms of mitochondrial diseases? If so how do you manage an individual experiencing multiple mitochondrial diseases?

A: Austin Larson, MD: It’s theoretically possible, but I have not seen any patients in my practice with more than one genetic diagnosis that both impact the mitochondria.


Q: What Doctors should be on my care team? Who should be the lead? Who should be the person that’s the center of the wheel? For all the referrals that go out there. But who do you think are the most important players on a care team for a patient with a mitochondrial disease?

A: Jennifer Yang, MD: Really good question. I think I could probably speak for the rest of the panelists that we end up kind of being the main lead for our care for our patients, depending on the academic center. If there is a mitochondrial specialist, they either come from a genetic space or the neurology space and in some centers you may have both a geneticist and a neurologist. Most mitochondrial diseases have some sort of neurological manifestation. We all routinely do regular cardiac monitoring. I think if it’s normal, I could wait, if depending on the mitochondrial disease you have, if the high risk for cardiac dysfunction. Then, certainly, having a cardiologist is very helpful.  Within the neurology space, if it’s a young child, if they have a lot of neurodevelopmental abnormality, I’ve also called in some of my colleagues who have specific neurodevelopmental specialty to kind of help out with these cases. And then it depends on the type of mito disease.  If you have something like Lhon then you certainly need a neuro-ophthalmologist, or at least an ophthalmologist. If diabetes is involved then an Endocrinologist. Much depends on the predominant symptoms.


Q: Do you have any experience with the drug Aclasta / Zoledronic acid for osteoporosis and mitochondrial patients?  It is given as an annual injection.  Alternative oral medicine isn’t an option due to GI issues. Would this have any impact on complex 1 or complex 4 defects with mitochondrial myopathy?  Is this drug considered safe for a mitochondrial patient?     

A: Russell Saneto, DO, PhD: We usual use a bisphosphonate that is given IV for severe osteopenia patients. At our center, even with really bad Z scores, this is not used unless a patient has had a bone fracture. But, we have not had any problems using this treatment for our mitochondrial patients.


Q: I am a senior mito patient and have been unsuccessful finding a Mito doctor to replace my former, deceased doctor. I live in MN. I’d appreciate any contacts you might be able to give me to try to connect with a doctor in the Minneapolis/St. Paul area or within a few hours’ drive. Thank you.

A: Austin Larson, MD. Mayo clinic in Rochester may be a good option for you.

A: UMDF EDU/Kara Strittmatter: Dr. Scaglia suggested last month that Dr. Anjali Aggarwal would be a good person to contact. I googled and found her info:


Q: Do you think differently about chronic migraines for a mito patient vs a non-mito patient – especially in terms of treatments? Are people with mito more prone to chronic migraine?    

A: Amy Goldstein, MD: Migraine is common in mito but I don’t think differently about treatments; same meds work well including the new ones (CGRPs).


Q: A recent genetic test revealed I have a mutation in the MT-CO1 gene, with 9% heteroplasmic level. A genetic test three years ago revealed homoplasmic ND-1 mutation supporting cx of LHON. Is the new genetic info relevant in any way?

A: Jennifer Yang, MD: It is important that the genetic testing is obtained by a reputable sequencing lab. If these variants were found on blood testing, then consider buccal swab or urine sediment (GeneDx can do specific variant testing from urine) to evaluate heteroplasmy levels. It is helpful to get a family member who does not have symptoms tested for the homoplasmic variant to see if this is a meaningful finding.


Q: Hello, I am 76 yrs. hurting age! I need to know which meds are good for painful stool movements, continuous urine leaks/full blown whatever is in my bladder, pain in general for hurting in all of my joints, bones, shoulders to my feet for the muscles? I have Mito Myopathy & am in constant pain ranging to moderate to severe 7 days & nights a week. I really do not want to be on a medicine that I get addicted to. I wear alot of Salonpas patches also. I wear more than one patch @ a time & no one in the hospital likes that & takes them away from me. Thank you for answering my questions. Continued success with the sweet children~!!~

A: Amy Goldstein, MD: Stool softeners vary but in general Miralax or Lactulose is a good place to start; then senna or Colace. Recommend GI to go further. Once constipation is controlled the bladder can improve, if not then recommend urology consult. For pain, highly recommend good pain doctor from a PMR background.


Q: I have two sons who both have Epilepsy (6 and 5). Two years ago we lost our youngest son due to Epilepsy and severe brain malformation. We were sent to Mito to rule out any mitochondrial diseases. We have done a Whole Exome Sequence on all three of the boys and results have come back inconclusive. My son who passed away, we were approved for Whole Genome Sequence and unfortunately that came back inconclusive as well. What is your recommendation as how to move forward? Thank you!

A: Russell Saneto, DO, PhD: Epilepsy or seizure control in mitochondrial disease is difficult to find the proper medication. Seizure medications are only tested on “generalized” versus “focal” seizures, not to a specific type of mitochondrial disease or specific type of epilepsy syndrome. We are making head way. For instance, at Seattle we are beginning a clinic trial for MEK pathway epilepsy, and we have an ongoing clinical trial for mTOR pathway epilepsy.

A: Divakar Mithal, MD: I am very sorry for your loss. This is a very difficult situation with no clear answers. I think you have done a lot of excellent workup so far and there aren’t many additional things I would do. Having said that, there are some research programs to investigate the genetics further. These can be hard to find.


Q: I am wondering if it is a good idea to be tested if my son has a severe form of Mitochondria disease.  Also if my other son should be tested.  Is there a way to find out if we have a less severe form or need to do preventative care?

A: Austin Larson, MD: If your son has a genetic diagnosis then you can discuss with a physician or genetic counselor what the benefits (and drawbacks) of genetic testing for others in the family would be.


Q: Long COVID symptoms overlap mito, any biological connection?

A: Jennifer Yang, MD: Long COVID symptoms may have secondary mitochondrial dysfunction, but it is not a primary genetic mitochondrial problem. The theory is potentially chronic inflammation leading to energy failure. There are active studies in this arena.


Q: What is the connection and symptoms of mito with dementia?

A: Austin Larson, MD: Dementia is certainly a symptom of several genetic mitochondrial diseases, but most patients with dementia likely do not have monogenic/mendelian (genetic) mitochondrial disease.


Q: What is the most important Blood work a patient with Mito of any age should have each year?

A: Amy Goldstein, MD: This might be different, depending on who you go visit. But I think a lot of us would do some standard labs. Now, keeping in mind that a lot of mitochondrial patients go to see different providers. So if, for example, you see your PCP and they’ve just done blood work. We may not be repeating it. But a lot of us would do things like a complete metabolic profile. So that would be things like your electrolytes, your BUN, and creatine to measure your kidney function. Liver function studies glucose. Many of us would do hemoglobin A1C to check for diabetes. A complete blood count again, making sure there’s no anemia or abnormal white blood count platelets. Also metabolic studies including  for mitochondrial dysfunction. So lactate and pyruvate amino acids, organic acids and urine. At CHOP we do a lot of specialty labs because we have a very active in house laboratory that’s run by Dr. Rebecca Ganetsky. A ketone body panel, that helps us look at complex one function, so we may be doing other labs that other people may not be ordering, you know, on the routine.


Q: You talk about neurology w/mito. Does a regular neurologist understand how this effects a child? My neurologist told me that my sons amino acid issues have nothing to do with his memory loss, even though he’s in lactic acidosis and every amino acid panel spikes very high and lows on every single panel he has, urine and plasma. I’m just at a loss. Our appointment was yesterday. But we are in Oklahoma and I don’t think he quiet has the background in this area.

A: Divakar Mithal, MD: These are very difficult questions and you are correct that most neurologists will not have a solid grasp of how this works. Even those of us who try very hard have limited understanding of these matters. I am not sure we know what to do – as Dr. Goldstein said, we are learning every day, from every patient we meet. I realize this does not help your child, but you are raising important points and I believe it’s okay to keep asking questions, perhaps seek additional answers, and join groups like this one to see if there is anyone out there who understands what is going on with your child.


Q: Explain Expanded Access and Compassionate use of a medication and what steps a person would take if they were interested in entering one of those programs.

A: Austin Larson, MD: When we talk about expanded access or compassionate use we are talking about 2 different things. There are formal, expanded access and compassionate use programs that have pre-specified protocols and the FDA has approved them similarly to clinical trials but generally are much less resource intensive, so they often have fewer lab draws or outcome metrics that are studied, and those types of programs generally exist for drugs in development. But either for patient populations that don’t qualify for an existing clinical trial, or if a company is developing a drug, but they’re between phases of a clinical trial, or they’re planning a trial in the future for a different indication, they may create one of those kind of formal or more structured compassionate use programs. There’s also a scenario where an individual clinician can say there is such a compelling use for this drug that is not approved (but) for this one patient we understand the mechanism of their disease really well, we understand the mechanism of the drug, this is just too compelling. The risk- benefit ratio is such that this is a scenario that justifies even without an existing protocol using this drug in this one case. So those are kind of 2 separate things. In both cases there has to be a company that is supportive of either providing just the drug or potentially providing the drug as well as some additional infrastructure that’s needed around that in order to both provide the treatment and also monitor it if the company is just providing the drug, but not providing the rest of the infrastructure, then that really falls on an individual clinician to figure out a way to identify those resources at their institution. And to be able to support that, it’s really resource intensive. You know, both for companies and for individual clinicians. That process doesn’t scale up to all of the patients that we care for. So there is going to be limited bandwidth for those types of programs. And I know that can be frustrating, but that’s kind of the reality.


Q: WGS for me revealed 2 CPT2 genes and multiple possible pathogenic genes for Leigh Disease.

A: Amy Goldstein, MD: I recommend you receive genetic counseling to see if any of these are possibly contributing to your symptoms.


Q: We have been approved to the Frontier Program by CHOP but want to see if certain testing can be done here in Chicago. Is there a way to work with Dr. Mithal to take next steps to be able to support our child’s search for a diagnosis?

A: Amy Goldstein, MD: Sometimes testing can be done locally; if you want Dr. Mithal to order it, he needs to see your child. If he has already seen your child we can consult with him to discuss further testing.


Q: Can adult patients be seen in CHOP?

A: UMDF EDU/Kara Strittmatter: Here is a link to the CHOP program and they see patients of all ages –


Q: Where can we find the link for the Bench to Bedside from Monday? Bummed I missed it.

A: UMDF EDU/Kara Strittmatter: Here you go – this is the recording link –


Q: Dr. Jennifer Yang, If I am currently seeing Dr. Haas, can I see you and then return back to Dr. Haas?

A: Jennifer Yang, MD: Yes you can. You can make an appointment with either of us. We have a clinic at UCSD Chancellor Park. If you were seen at UCSD, you can call for an appointment 858-657-8540.