Congenital Hyperinsulinism International

You’ve Come a Long Way Baby: Patient Families, Congenital Hyperinsulinism Specialists, and Advocates Meet in Italy

Group Photo Isabel CalderonCongenital Hyperinsulinism International (CHI) held the Fifth Congenital Hyperinsulinism Family Conference at the NH Milano 2 Hotel in Segrate, Italy just outside of Milan on September 17 and 18, 2013. It was an intensive two days of presentations on many aspects of congenital hyperinsulinism, from the experience of living with the condition, to the latest research on potential new treatment options. The meeting was remarkable for showcasing a good number of new research projects, treatment options being pursued, and patient advocates working to support congenital hyperinsulinism families. The take away from this meeting is that so much is happening worldwide to improve the lives of children born with the condition.

The truly international feel of the conference was quite exciting. There were participants from Dubai, Paraguay, Italy, France, Spain, the UK, Germany, Austria, Canada, and the U.S. There were presenters from Germany, the UK, the U.S., Austria, and Canada. To ensure that the meeting was accessible to all, there was simultaneous translation into 4 difference languages: Italian, French, German, and Spanish.

In the session entitled HIstories: Congenital Hyperinsulinism Families, Children and Teenagers Share Their Experiences, family members presented on the struggles and triumphs of life with the disease. While the stories all differed, suffering and worry were a component of each, as was the relief of finally receiving a diagnosis.

Patient advocates from leading congenital hyperinsulinism patient organizations presented on their work, the need to advocate for congenital hyperinsulinism patients so they are supported medically and emotionally, have the accommodations they need at home, school, day care, and work, and have access to the best treatments, medicine, and necessary devices. The work of these groups also involves creating awareness of the disorder for timely diagnosis to reduce cases of brain damage, and supporting research toward a cure. Education for patients and medical personnel is also a major focus. Representing patient organizations at the meeting were Adrienne Burton, Director of the HI Fund in the UK, Irene Promussas, Director of Lobby for Kids and Co-Director of Kongenitaler Hyperinsulinimus.e.V, Isabel Calderón, Vice President of Congenital Hyperinsulinism International, and myself.

Together with Clare Gilbert, nurse specialist at Great Ormond Street Hospital (GOSH) and Oliver Blankenstein, a leading pediatric endocrinologist and congenital hyperinsulinism specialist at Charité Hospital in Berlin, Germany, the three patient advocates spoke on a number of topics very central to the needs of congenital hyperinsulinism families. Burton and Gilbert spoke of the importance of excellent management of congenital hyperinsulinism at school and on the multiple devices that are the most useful to this patient group. They emphasized how important it is for a child with congenital hyperinsulinism to be at a school where the child is fully supported by the adult staff; where learning accommodations are made when necessary and the child’s medical plan is followed. Burton’s presentation on devices including insulin pumps, glucometers and continuous glucose monitors was exhaustive in its thoroughness and is of tremendous value to so many of us in the congenital hyperinsulinism community. Promussas presented on managing the stress of parenting children with complex medical needs. She shared her own journey and the importance of finding emotional support within the local community and connecting with a virtual online community of people who understand the condition.

Calderón, Blankenstein, and Gilbert presented on feeding issues, one of the most complex and vexing concerns for congenital hyperinsulinism parents. Calderón shared moving video of her now grown up child’s struggles with feeding during her early school years. Gilbert spoke about the changes GOSH has made in its practice in an attempt to not interrupt natural feeding development. Blankenstein provided a very comprehensive presentation pointing out just how pervasive feeding problems are for children with congenital hyperinsulinism and he provided a number of explanations for why the food aversions develop. Most compelling was his illustration of how caregivers may inadvertently be conditioning congenital hyperinsulinism patients not to want to eat because the association of feeling bad during a hypoglycemic event is constantly linked to being fed.

The medical presenters hailed from many of the leading world centers where congenital hyperinsulinism is treated and studied. Dr. Paul Thornton, pediatric endocrinologist and Director of the Congenital Hyperinsulinism Center at Cook Children’s in Fort Worth, Texas led off the medical sessions with an extremely comprehensive talk on the history of congenital hyperinsulinism treatment and research. He provided an excellent context and foundation for all the other talks beginning with the history of insulin treatment. Dr. Khalid Hussain, a leading pediatric endocrinologist practicing at GOSH provided the necessary background for the other talks with his presentation on the genetics of the condition, which was done in a brilliantly clear and concise way.

There were a series of talks on new investigational treatments for congenital hyperinsulinism patients, all of which were very interesting and provide hope for the community. From Dr. Oliver Blankenstein of Berlin’s Charité Hospital and Dr. Pratik Shah from GOSH, we learned about long acting octreotide studies (lanreotide). The Charité study involved 6 patients who could not be managed on diazoxide or octreotide. After lanreotide was substituted for octreotide, hypoglycemia was reduced in all six patients. Additionally, the lifestyle was greatly improved for patients in the study because the injection was once every 4-6 weeks instead of multiple injections daily or the need to wear an insulin pump.

Dr. Pratik Shah presented on a study of 13 patients at GOSH. He concluded that lanreotide has been found effective. He gave more in-depth information on one patient. Prior to enrollment in the lanreotide study, one patient on octreotide was described as needing multiple injections of octreotide daily, bolus g-tube feedings three times a day, and g-tube feedings at night. After lanreotide was substituted for octreotide, the patient was able to go off of all g-tube feedings and can now fast for 14 hours. The data shows that blood sugar levels are regulated in patients at both institutions with injections only necessary once per month or less frequently in some cases at Charité. An increase in side effects has not been seen in either study. The syringe used to administer long acting octreotide is reported to be bigger and thicker than an insulin syringe injection and insulin pump inserter kit.

Dr. Senthil Seniappan also from GOSH presented on an oral medication called sirolimus for patients with severe disease who are not responsive to maximum doses of diazoxide and octreotide. These patients would have been candidates for sub-total pancreatectomy surgery. There are four patients currently enrolled in the study of sirolumus for congenital hyperinsulinism patients. Some data on one of the patients was shared. This patient has been weaned of octreotide and is on normal feedings at home. At the age of 9 months this baby is able to fast more than 8 hours with a fasting glucose of 4.8 mmol (86 mg/dl).

From Louise Caine, clinical nurse at the Royal Manchester Hospital for Children, another leading center in the UK, participants learned about a study looking at the therapeutic value of fish oil for patients. 13 patients participated in the study looking at fish oil as an adjunct treatment option to be used along with diazoxide. Less hyperglycemia and hypoglycemia was noted in this preliminary study.

Dr. Klaus Mohnike, a leading pediatric endocrinologist who runs the congenital hyperinsulinism program at Magdeburg University Hospital in Germany and is Co-Director of the COACH Group, presented a study looking at the intellectual development and motor function of patients with congenital hyperinsulinism. 59 patients were included in the study. The study took place at a testing center that simulated the home experience. Unlike some other studies, all of the testing was done as part of the study as opposed to being collected from medical records. Developmental delay was found in 26 of the 59 patients and motor delay was the most common type of delay found in the study. Dr. Mohnike also made the important point that therapeutic treatments beginning early in life are essential to prevent further delay.

Wil Chow, Program Manager at XOMA presented on XMetD, an investigational drug that may be a future treatment for patients with congenital hyperinsulinism and other hyperinsulinemic hypoglycemic conditions. The drug is an insulin receptor antagonist antibody. The principle behind this research is that hypoglycemia would not occur in hyperinsulinism patients because the insulin receptor would be inhibited. The drug has been tested in rodents with congenital hyperinsulinism and normal fasting glucose levels were attained in these animal studies. XOMA hopes to begin clinical trials in adults with congenital hyperinsulinism patients very soon.

Dr. Thomas Meissner, Deputy Director of the Department of Pediatrics at University Children’s Hospital in Dusseldorf, Germany presented data on the conservative method of therapy in diffuse patients, rates of remission in congenital hyperinsulinism patients, and the role of octreotide and lanreotide in the conservative approach to therapy in patients who are not responsive to diazoxide.

Dr. Winfried Barthlen, Chief Surgeon at Griefswald Hospital in Germany and Co-director of the COACH group presented on his pancreatectomy practice for patients with congenital hyperinsulinism. He presented data on outcomes for patients who underwent a pancreatectomy for focal, diffuse, and mosaic disease. Dr. Barthlen performs what he calls restrictive surgery in which he removes less than 50% of the pancreas. Dr. Barthlen prefers to remove less than 50% of the pancreas because sub-total pancreatectomy most often leads to diabetes.

In his practice, patients with focal disease who had restrictive surgery did very well as a group with 19 out of 20 patients requiring no medication after surgery. Of the 4 patients who underwent restrictive therapy for segmental mosaic hyperinsulinism, 1 does not require medication and three require medication (diazoxide in 2 cases and lanreotide in the remaining case) to control hypoglycemia. Of the 10 patients who underwent restrictive surgery for diffuse disease, five do not require medication, 4 require medication and one patient required a sub-total pancreatectomy. The study does not include data on feeding regimes and enteral feeding supplements in these groups of patients. In addition to the data, the presentation was remarkable for the inclusion of extremely high quality photographs and movies of the pancreas.

In addition to the talks on research, members of three centers (Oliver Blankenstein for Charité, Claire Gilbert for GOSH, and Klaus Mohnike for the COACH group) presented on how a PET scan is used at their centers to determine if a focal lesion is present and where it is located. The PET has become the gold standard for localizing the lesions and this great technology has led to a complete cure for many of the babies who receive a diagnosis of focal HI.

There were also “break-out” sessions where smaller groups of patient families who share the same type of hyperinsulinism met in circles with conference presenters. These sessions turned out to be a very successful part of the program. Patient families were able to share and receive support and more targeted guidance in a more intimate setting.

It was really a very full two days and the importance of the informal time, when families and presenters all gathered to dine, cannot be underestimated. A very meaningful and hopefully lasting bond developed between all those who came to Segrate. These connections are central to the wellbeing of patients, their families, and drive research and better care. The slide presentations and photographs from the conference will be added to the Congenital Hyperinsulinism International (CHI) website very soon!

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