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Research & Clinical Trials

Children with Pearson Syndrome
An Open Label Phase 2 Safety and Efficacy Study of EPI-743 (Vincerinone) in Children with Pearson Syndrome-IRB 14-889

Pearson syndrome is an inherited mitochondrial deletion syndrome characterized by infantile sideroblastic anemia and exocrine pancreatic dysfunction. This is an open-label subject controlled study of EPI-743 in subjects with Pearson Syndrome. Data obtained on study drug will be compared with 12-month subject data prior to initiation of therapy. The primary endpoint of the study will be transfusion avoidance which will be determined by calculating the change in blood volume transfused over the 12 months on study drug with the preceding 12 months. Changes in neuromuscular, pancreatic, renal and hepatic function will also be compared prior to and following administration of EPI-743. Given the rarity of disease—fewer than 100 known cases—we will target an enrollment of 10 subjects.

Principal Investigator: Sumit Parikh, MD 216.444.1994

Ask Children
Assess Specific Kinds of Children Challenges in Neurology Devices - 09-555

This study sponsored by the FDA will evaluate scientific and medical issues pertaining to children undergoing treatment with a medical device. The ASK CHILDREN study is intended to aid in future development of various prostheses. The FDA seeks to use the information obtained to identify more efficient strategies in the evaluation and review of these devices regulated by the Agency. This study will focus primarily on children ages 7-15 with neurological devices such as VP shunt, the Cochlear implant, DBS for dystonia, Spinal Cord stimulator post spinal cord injury, VNS for epilepsy.

Primary Investigator: Dr. Neil Friedman 216.444.6772

VIPS Study
Vascular effects of infection in pediatric stroke.

The purpose of the study is to examine the association between infection and arterial ischemic stroke (AIS) in children aged 1 month to the 19th birthday, 480 will be enrolled over three years at 25 sites.

Primary Investigator: Dr. Neil Friedman 216.444.6772

CDKL5 Registry-IRB 14-478

The purpose of this study is to gather medical information from patients seen at CDKL5 Centers of Excellence across the country, each housing a multi-disciplinary clinic. Medical data collected as part of the study will be used to better understand the condition and optimize care for patients with CDKL5-related disease. Such centers can also better ascertain how the condition unfolds, allowing the group to understand the natural history of the disease. At least 15-20 people will take part in this study annually at the Cleveland Clinic.

Principal Investigator: Sumit Parikh, MD 216.444.1994

Mitochondrial Disease Consortium
North American Mitochondrial Disease Consortium (NAMDC)-IRB 10-592

NORTH AMERICAN MITOCHONDRIAL DISEASE CONSORTIUM(NAMDC )is a consortium consisting of several different clinical and research sites that have provided services to patients or have been involved with clinical research patients with mitochondrial disorders. Each of the sites will enroll patients diagnosed mitochondrial diseases into the project, which consists of a patient data registry and a tissue sample biobank. At enrollment, each patient must submit his/her name, diagnosis (proof of diagnosis) and contact information to the registry. Patients who have enrolled in the registry will have the option to join the biobank by submitting one or more samples.

Principal Investigator: Sumit Parikh, MD 216.444.1994

Natural History of Pearson Syndrome
Natural History of Pearson Syndrome IRB 13-988

The purpose of this 3-year, multi-site, non-randomized, prospective, observational study is to characterize the natural history of Pearson Syndrome.Pearson Syndrome is a rare mitochondrial disorder due to a large-scale mitochondrial DNA (mtDNA) deletion. It is not fully understood why single mtDNA deletions lead to primary marrow involvement in some or an evolution to Kearns-Sayre Syndrome (KSS) or Chronic Progressive External Ophthalmoplegia (CPEO)in others. Because of its rarity and phenotypic variability, a natural history study is critically important to characterize the onset, progression, and clinical variability in these patients. These studies are likely to improve care and possibly patient outcomes. Furthermore, proactive characterization of Pearson Syndrome is a prerequisite to identify meaningful and reliable outcome measures necessary for future therapeutic clinical trials.

Principal Investigator: Sumit Parikh, MD 216.444.1994