Ultragenyx Will be Recruiting Patients With HIBM for a Natural History Study

Ultragenyx, the company that is doing the trial with Sialic Acid (SA-ER) will soon be recruiting HIBM patients for their registry.  I have posted the text and link here.  I will post again once they start recruiting.  

A service of the U.S. National Institutes of Health

Hereditary Inclusion Body Myopathy-Disease Monitoring (HIBM-DMP): A Combined Registry and Prospective Observational Natural History Study to Assess HIBM Disease

This study is not yet open for participant recruitment.

Verified February 2013 by Ultragenyx Pharmaceutical Inc

Sponsor:

Ultragenyx Pharmaceutical Inc

Collaborator:

Newcastle University

Information provided by (Responsible Party):

Ultragenyx Pharmaceutical Inc

ClinicalTrials.gov Identifier:

NCT01784679

First received: February 4, 2013

Last updated: February 5, 2013

Last verified: February 2013

History of Change

Purpose

HIBM is a severe progressive myopathy that typically presents in early adulthood as weakness in the distal muscles of the lower extremities and progresses proximally, leading to a loss of muscle strength and function, and ultimately a wheelchair-bound state. The rate of progression is gradual and variable over the course of 10-20 years or longer. There is a need to better understand the disease-specific features of HIBM to heighten disease awareness; facilitate early diagnosis; identify patients; expand knowledge of the clinical presentation, progression and variation of the disease; identify and validate biomarkers and other efficacy measures; inform on the design and interpretation of clinical studies of investigational products; and eventually to optimize patient management.

Condition
Hereditary Inclusion Body Myopathy GNE Myopathy Nonaka Disease Quadriceps Sparing Myopathy (QSM) Distal Myopathy With Rimmed Vacuoles (DMRV)

Study Type:	Observational [Patient Registry]
Study Design:	Time Perspective: Prospective
Target Follow-Up Duration:	15 Years
Official Title:	Hereditary Inclusion Body Myopathy-Patient Monitoring Program (HIBM-PMP): A Registry and Prospective Observational Natural History Study to Assess HIBM Disease

Further study details as provided by Ultragenyx Pharmaceutical Inc:

Primary Outcome Measures:

• Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function. [ Time Frame: 3 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:

• Obtain information to better characterize quality of life and understand the timing of significant life changing events in HIBM patients using patient-reported outcomes. [ Time Frame: 3 years ] [ Designated as safety issue: No ]

Estimated Enrollment:	200
Study Start Date:	March 2013
Estimated Study Completion Date:	February 2028
Estimated Primary Completion Date:	February 2016 (Final data collection date for primary outcome measure)

Groups/Cohorts
Natural History Prospective Observational Group
Online Registry Patient Reported Group

Detailed Description:

The main objective of this program is to better understand HIBM.

The specific HIBM Disease Registry's objectives are to:

• Identify HIBM patients worldwide.
• Promote awareness and facilitate diagnosis of HIBM disease in the neuromuscular field.
• Obtain an assessment of the medical history, clinical presentation and progression of disease in HIBM patients and provide a connection for subjects to the broader HIBM community and associated programs.
• Provide customized information to subjects and their physicians that desire information on their disease status and progression.

The specific HIBM Natural History Study's objectives are to:

• Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function.
• Obtain information to better characterize quality of life and understand the timing of significant life changing events in HIBM patients using patient-reported outcomes.
• Identify biomarkers and efficacy measures for use as endpoints in future clinical studies.

Eligibility

Ages Eligible for Study:	18 Years to 65 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Probability Sample

Study Population

Must have a diagnosis of HIBM, GNE myopathy, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease.

Criteria

Inclusion Criteria:

• • Must be at least 18 years of age.
  • Must be willing and able to provide electronic consent to release access to medical information to the study sponsor or its agents.
  • Must have a diagnosis of HIBM, GNE myopathy, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease.
  • Must be willing and able to comply with all study requirements.

Exclusion Criteria:

• For Natural History Component, Any unrelated, comorbid disease or condition that, in the view of the investigator, would interfere with study participation or would affect safety.
• For Online Registry Component, there are no exclusion criteria

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT01784679

Contacts

Contact: John Ditton

jditton@ultragenyx.com

Sponsors and Collaborators

Ultragenyx Pharmaceutical Inc

Newcastle University

More Information

No publications provided

Responsible Party:	Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier:	NCT01784679 History of Changes
Other Study ID Numbers:	UX001-CL401
Study First Received:	February 4, 2013
Last Updated:	February 5, 2013
Health Authority:	United States: Food and Drug Administration

Keywords provided by Ultragenyx Pharmaceutical Inc:

Hereditary Inclusion Body Myopathy GNE Myopathy Nonaka Disease Quadriceps Sparing Myopathy

distal myopathy with rimmed vacuoles ultragenyx rare disease

Additional relevant MeSH terms:

Muscular Diseases Distal Myopathies Musculoskeletal Diseases Neuromuscular Diseases

Nervous System Diseases Muscular Dystrophies Muscular Disorders, Atrophic Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on February 14, 2013

http://www.clinicaltrials.gov/ct2/show/NCT01784679?term=hibm&rank=2

The National Institutes of Health in Bethedsa Maryland, United States Needs a Few More Patients with HIBM to Complete Phase one Trial of ManNac

Dear Friends from near and far: The National Institutes of Health in the United States of America still needs some more patients who have a diagnosis of Hereditary Inclusion Body Myopathy to complete their phase 1 trial with ManNac, and the natural history study. I have participated in one of their studies and I can attest to the excellent care and state of the art equipment. Their researchers and doctors are beyond comparasion. Because HIBM is rare, we need all the patients with HIBM who are willing to contact NIH and participate in the trials. Here is the description and a link at the bottom of the page. Please feel free to ask me any questions. ClinicalTrials.gov Identifier: NCT01634750 First received: July 3, 2012 Last updated: December 8, 2012 Last verified: September 2012 History of Changes Full Text View Tabular ViewNo Study Results PostedDisclaimerHow to Read a Study Record Purpose Background: - Hereditary inclusion body myopathy (HIBM) is a genetic disorder caused by mutations in a gene called GNE. This gene is responsible for producing a sugar called sialic acid. Low levels of sialic acid may cause muscle problems. Symptoms of HIBM include walking difficulties and muscle weakness, which usually start in a person's 20s or 30s and become worse over time. Researchers are studying a drug called ManNAc. It may be useful for treating HIBM. However, this drug is still being tested. Researchers want to see how ManNAc is absorbed into and removed from the blood. They will not be looking specifically at whether ManNAc can stop or slow the symptoms of HIBM. Objectives: To study how MaNAc is absorbed into and removed from the blood in people with HIBM. To study of safety of ManNAc in people with HIBM. Eligibility: - Individuals between 18 and 70 years of age who have HIBM. Design: Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected. Participants will have a 3 to 4-day inpatient stay for the main part of the study. Participants will be divided into groups of six. In each group, four will take ManNAc and two will take a placebo. Participants will not know which one they will receive. Participants will have a single dose of either ManNAc or placebo. They will be monitored for any possible side effects. Frequent blood samples will be collected during the 4-day stay. No treatment for HIBM will be provided as part of this study. Condition Intervention Phase Hereditary Inclusion Body Myopathy (HIBM) GNE Myopathy Drug: ManNAc Phase 1 Study Type: Interventional Study Design: Allocation: Randomized Endpoint Classification: Safety Study Intervention Model: Parallel Assignment Masking: Double Blind (Subject, Investigator) Primary Purpose: Treatment Official Title: A Phase 1 Randomized, Placebo-Controlled, Double-Blind, Escalating Single-Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Resource links provided by NLM: Genetics Home Reference related topics: inclusion body myopathy 2 MedlinePlus related topics: Muscle Disorders U.S. FDA Resources Further study details as provided by National Institutes of Health Clinical Center (CC): Primary Outcome Measures: To evaluate the safety and tolerability of a single dose of orally administered ManNAc to HIBM subjects. [ Designated as safety issue: Yes ] Secondary Outcome Measures: Pharmacokinetics Estimated Enrollment: 22 Study Start Date: September 2012 Estimated Study Completion Date: February 2013 Estimated Primary Completion Date: February 2013 (Final data collection date for primary outcome measure) Arms Assigned Interventions Experimental: ManNac Drug: ManNAc Single dose Placebo Comparator: Placebo Drug: ManNAc Single dose Detailed Description: Hereditary inclusion body myopathy (HIBM) is an autosomal recessive, neuromuscular disorder characterized by progressive muscle weakness with onset in early adulthood. The causative gene, GNE, codes for the bifunctional enzyme uridine diphospho-N-acetylglucosamine (UDP-GlcNAc)-2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), which catalyzes the first 2 steps in the biosynthesis of sialic acid. The subsequent paucity of sialic acid production is presumed to cause decreased sialylation of HIBM muscle glycoproteins, resulting in muscle deterioration. In this Phase 1, randomized, placebo-controlled, double-blind, escalating single-dose study, we propose to provide ManNAc (N-acetyl-D-mannosamine monohydrate) orally as a liquid solution to 3 cohorts of 6 subjects (Cohorts A, B, C) at doses of 3,000 mg, 6,000 mg, and 10,000 mg ManNAc, respectively, or up to the maximum tolerated dose (MTD). The objectives of this study are to evaluate the safety, tolerability, and pharmacokinetics (PK) of a single dose of orally administered ManNAc to HIBM subjects, to identify the MTD of a single dose of orally administered ManNAc to HIBM subjects, and to explore the effect of a single dose of ManNAc on potential pharmacodynamic (PD) markers of HIBM. All subjects will be randomly assigned in a 2:1 ratio to receive ManNAc (n equals 4) or placebo (n equals 2) and the decision to dose-escalate will be the responsibility of the Safety Review Committee (SRC). Safety will be assessed by adverse events (AEs), clinical laboratory tests, vital signs, physical examinations, and electrocardiograms (ECGs). PK will be assessed for both ManNAc and sialic acid. PD will be assessed by some of the following exploratory biomarkers: serum transferrin sialylation status; plasma glycan profiles; and plasma, white cell, platelet, and urine sialylation status (free and bound sialic acid N-acetylneuraminic acid (Neu5Ac) and cytidine 5-monophosphate CMP-Neu5Ac). Eligibility Ages Eligible for Study: 18 Years to 70 Years Genders Eligible for Study: Both Accepts Healthy Volunteers: No Criteria INCLUSIONI CRITERIA: Subject is 18-70 years, either gender, inclusive. Subject has a diagnosis of HIBM (or IBM2, GNE myopathy, DMRV or Nonaka myopathy) based upon a consistent clinical course and identification of 2 GNE mutations. Molecular confirmation of the diagnosis will be obtained for all subjects in the study. Subject must be willing to stop any treatment with ManNAc, sialic acid, IVIG, and/or other supplements containing sialic acid (eg, St John's wort, sialyllactose) 30 days prior to randomization and remain off such treatment for the duration of the trial. Subject has the ability to travel to the NIH Clinical Center (CC) for admissions. Subject (if a woman of reproductive age) must be willing to use an effective method of contraception for the duration of the trial. Subject provides written informed consent. EXCLUSION CRITERIA: .-.Subject has a severe disease manifestation that would interfere with the ability to comply with the requirements of this protocol. Subject has a psychiatric illness or neurological disease that would interfere with the ability to comply with the requirements of this protocol. This includes, but is not limited to, uncontrolled/untreated psychotic depression, bipolar disorder, schizophrenia, substance abuse or dependence, antisocial personality disorder, or panic disorder. Subject has hepatic laboratory parameters (AST, ALT, GGTP), or renal laboratory parameters (creatinine, BUN) greater than 3 times the upper limit of normal. Subject has a QTcB > 450 msec (males) or QTcB > 470 msec (females). Subject is anemic (defined as two standard deviations below normal for age and gender). Subject shows evidence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease, or has a condition that requires immediate surgical intervention. Subject is pregnant or breastfeeding at any time during the study. Subject has received treatment with another investigational drug, investigational device, or approved therapy for investigational use within 4 weeks of initial screening. Subject has a hypersensitivity to ManNAc or in the judgment of the investigator, has a condition that places the subject at increased risk for adverse effects. Contacts and Locations Please refer to this study by its ClinicalTrials.gov identifier: NCT01634750 Contacts Contact: Lea Latham, CRNP (301) 827-9235 llatham@mail.nih.gov Contact: Nuria Carrillo-Carrasco, M.D. (301) 402-2324 carrilln@mail.nih.gov Locations United States, Maryland National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting Bethesda, Maryland, United States, 20892 Contact: David Draper 301-827-9636 draperd@mail.nih.gov Sponsors and Collaborators National Human Genome Research Institute (NHGRI) National Center for Advancing Translational Science (NCATS) Therapeutics for Rare and Neglected Diseases (TRND) Investigators Principal Investigator: Nuria Carrillo-Carrasco, M.D. National Human Genome Research Institute (NHGRI) More Information Additional Information: NIH Clinical Center Detailed Web Page Publications: Amir SM, Barker SA, Butt WR, Crooke AC, Davies AG. Administration of N-acetyl-D-mannosamine to mammals. Nature. 1966 Aug 27;211(5052):976-7. Argov Z, Mitrani-Rosenbaum S. The hereditary inclusion body myopathy enigma and its future therapy. Neurotherapeutics. 2008 Oct;5(4):633-7. Review. Bork K, Reutter W, Gerardy-Schahn R, Horstkorte R. The intracellular concentration of sialic acid regulates the polysialylation of the neural cell adhesion molecule. FEBS Lett. 2005 Sep 12;579(22):5079-83. Responsible Party: National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) ClinicalTrials.gov Identifier: NCT01634750 History of Changes Other Study ID Numbers: 120207, 12-HG-0207 Study First Received: July 3, 2012 Last Updated: December 8, 2012 Health Authority: United States: Federal Government ClinicalTrials.gov processed this record on January 21, 2013 TO TOP For Patients & Families For Researchers For Study Record Managers HOME RSS FEEDS SITE MAP TERMS AND CONDITIONS DISCLAIMER CONTACT NLM HELP DESK Copyright Privacy Accessibility Viewers & Players Freedom of Information Act USA.gov http://www.clinicaltrials.gov/ct2/show/NCT01634750?term=hibm&rank=1

Keeping Pace With Adaptive Exercises

I would like to wish my readers, family, and friends a peaceful holiday season with your loved ones. For this post I thought it would be helpful and informative to post some of the exercises I have been doing over the years. Since childhood, I have always been involved in athletics, yoga, and dancing. After the diagnosis I was told my condition will get worse,and I should not engage in strenuous activities because it would break down my muscles faster. Knowing myself, I know I would have to find exercises that I can do as my abilities decline. Gradually, I transitioned from "Ashtanga" yoga to the swimming pool, and now I have incorporated the swimming pool exercises with weight training, cardio workout and stretching. I have been quite fortunate to find two community colleges that offer these adaptive exercises for people with disabilities. All of these exercises, except for the cardio, I do many repetitions as many as I can do without exhausting my muscles. I feel had it not been for these exercises, I would have declined faster. Photo by R.W.Swan(Alaska)

These two machines I do my cardio workout on. One is an elliptical and the other is called a Nu Step.

This machine is a leg press. I have to strap my legs to help them stay together. I add some weights to do this exercise. It helps to strengthen the gluteal and quadricepts muscles. I also feel that my hamstrings get some workout.

This equipment is called an abdominal press, it helps me to stregthen my core muscles which I think has helped me to maintain mobility over the years.

With this equipment I add some weights and pull it over my head. I also do bending exercises with this one, bending forward as if to pick something off the floor.

This equipment is a "lateral pull" I also add weights and pull down. I feel a good stretch around my shoulder blades.

I use this walker to assist me in navigating the exercise room.

Rare Disease Connect Globally

http://www.rareconnect.org/en

Ultragenyx Presented The Findings of Phase 1 Sialic Acid Extended Release (SA-ER) Trial in Australia

Ultragenyx, a biopharma company presented their findings on phase 1 Sialic Acid Extended Realease (SA-ER)tablets at 17th. International Congress of the World Muscle Society earlier this month in Perth, Australia. SA-ER is being tested for Hereditary Inclusion Body Myopathy (HIBM). I participated in this clinical trial last year, therefore the findings are quite personal for me. I am currently participating in the phase 2 trial which will be completed late in 2013. Here, I am attempting to provide a narrative/summary of what I understand from their presentation in Perth, Australia. I have posted the links for those interested in charts and technicalities. As a disclosure, please note I am not a doctor, I am patient directly experiencing HIBM. SA-ER were tested on 26 participants with HIBM. Eight were males and eighteen females. The races/ethnicity were 6 Asians, 20 white, (1 Hispanic/Latino 25 Non-Hispanic). No mentioned was made of Persian/Jewish patients. SA-ER was well tolerated at all given doses with minimal side effects. Depending on the dose levels. SA-ER was absorbed and showed steady amount of sialic acid between 8-16 hours after dosing. They tested SA-ER on the patients when they fasted and with food. Sialic Acid seemed to be in higher concentration with the group that took the medicine with their meals. The evening dose was given closer to the night dose because it is stated that at night time there is protein synthesis and muscle repair, therefore the need for Sialic acid is greater. Besides all these explanations, the one statement I am quite encouraged about is "SA-ER should achieve levels of free Sialic Acid that are expected to correct Sialic Acid deficiency and improve sialylation in the muscles of HIBM patients." Please feel free to send me or write your comments. P.S. Ultragenyx is still recruiting patients for phase 2 SA-ER trial in Los Angeles, New York, Missouri and Israel. http://globenewswire.com/Tracker?data=d6QAld4vepVP7jLm-NEJ9Kbhc9rUIVakuLOTfLBZAFBQWdVKFU9oWPygz-Xe6MYU7lR2sMmxIoUktEeY9c1uczF8F3y9N1PAlpg0rBRAAcBCm4Gr3Jebqm5hEQwRnPosqNDEM0K.8gfRAz-dV3zoX4LRDSYvtdfsa90dnfChvbK8uTPDaK0Rjq439Mc8jDUxhxXhAJKWGDA6mn1dWJjfQdcebeW3fMwZ6oeAHOupszvc6Ptu0NFn7AGJbgM%3D http://www.reuters.com/article/2012/10/10/idUS186788+10-Oct-2012+GNW20121010 http://www.wms2012.com/

National Institutes of Health conducting a Webinar today on Rare Diseases

For all who are able to tune in to this webinar today at 2.30 p.m. eastern time. Please refer to the links below for more details. Undiagnosed Diseases Program - Community Input webinar 10/17/12 2:30 pm ET Start Time: 10/17/2012 2:30 PM ET Duration: 90 minutes URL: https://webmeeting.nih.gov/udp-community_input/ Conference Number(s): 1-800-201-2375 Participant Code: 471324 The Office of Rare Diseases Research- NCATS and the National Human Genome Research Institute are hosting a webinar to provide information to the patient community about a new NIH initiative to expand the Undiagnosed Diseases Program (UDP). In addition, significant time will be dedicated to discussing the issues listed below. We will use the information discussed to help in the selection process of clinical sites for the expanded UDP. This webinar is not to solicit new patients nor to answer diagnostic questions. The physical and financial costs of the diagnostic odyssey What are the major barriers to obtaining a diagnosis? Ready access to specialists, including: Inablity to see a specialist necessary to help obtain an accurate diagnosis Number of specialists seen in order to get an accurate diagnosis Issues getting specialists to talk to each other (coordinated care) Travel requirements (restrictions or limitations due to disease), including: Number of times have traveled out of town to be seen by a doctor when trying to get an accurate diagnosis Number of times have traveled out of state to be seen by a doctor when trying to get an accurate diagnosis Distance needed to travel ever prevented seeing a doctor to get an accurate diagnosis Farthest distance have traveled in order to be seen by a doctor when trying to get an accurate diagnosis Ease of Access to Newer Diagnostic tests, including Problems gaining access to newer imaging or genetic sequencing tests necessary to get an accurate diagnosis Insurance reimbursement issues for costs related to getting an accurate diagnosis Amount of time required to get tests approved by insurance companies/3rd party payers. http://rarediseases.info.nih.gov/News.aspx http://rarediseases.info.nih.gov/files/UDP-%20Questions%20for%20patient%20focused%20webinar%20Oct-2012.pdf

Update on the ManNac( DEX-M74) Trial at the National Institutes of Health

NIH launches trial for rare degenerative muscle disease treatment Researchers have launched a clinical trial to evaluate the drug candidate DEX-M74 as a treatment for a rare degenerative muscle disease, hereditary inclusion body myopathy (HIBM). National Institutes of Health scientists from the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI) will conduct the clinical trial at the NIH Clinical Center. HIBM, also known as GNE myopathy, has no available therapy. Disease symptoms emerge in adulthood and slowly lead to progressive muscle weakness. Most patients develop symptoms in their early 20s and eventually require a wheelchair as their arm, hand and leg muscles weaken. Mutations in the GNE gene cause HIBM by producing low sialic acid levels in muscle proteins, which scientists think contributes to the symptoms of muscle weakness. Normally, GNE produces an enzyme that produces sialic acid, a sugar important to muscle development and kidney function. “This study marks an important milestone toward developing a treatment for an underserved patient population, and we would not be this far along had it not been for the teamwork and dedication of the researchers working on this collaboration,” said Christopher P. Austin, M.D., the newly appointed NCATS director. In 2007, Marjan Huizing, Ph.D., an associate investigator in NHGRI's Medical Genetics Branch, led a team of scientists in search of an HIBM treatment. They hypothesized that a compound called ManNAc, now called DEX-M74, might improve the low sialic acid levels that cause HIBM. DEX-M74 is a sugar that the body converts to sialic acid. Huizing and colleagues conducted studies that showed the compound was effective in controlling sialic acid levels in a mouse model with a specific GNE mutation. The researchers published their findings in the June 2007 issue of the Journal of Clinical Investigation. Based on these results, they set out to evaluate the effects of DEX-M74 on progressive muscle weakness in HIBM patients. However, the project required additional funding for pre-clinical studies. In 2009, NIH established its Therapeutics for Rare and Neglected Diseases (TRND) program, now part of NCATS, to facilitate the pre-clinical development of new drugs for these ailments. TRND scientists selected the development of DEX-M74 as a treatment for HIBM as one of its initial pilot projects. The collaboration includes TRND researchers, the laboratories of Marjan Huizing, Ph.D., and of William A. Gahl, M.D, Ph.D., principal investigator of NHGRI’s Medical Genetics Branch, and New Zealand Pharmaceuticals Limited (NZP). NZP is manufacturing DEX-M74, which was developed by Drs. Gahl and Huizing and licensed from the NIH by NZP. "TRND infused life into the HIBM project by supporting pre-clinical studies for the investigational new drug application," said Dr. Gahl, who also serves as NHGRI clinical director. "The program provides the missing link in the evolution of drug treatments. It is a resource that has the potential to develop new therapeutics for rare diseases, often with applicability to common disorders." During the HIBM project, the TRND program has supported toxicology studies to evaluate the safety of DEX-M74. Researchers also generated chemistry manufacturing and controls data, which relate to the formulation and manufacturing process of a drug. Based on the availability of these new data, the collaborators completed an IND application that the U.S. Food and Drug Administration recently allowed to go into effect. "The TRND program was designed to provide the expertise and knowledge needed to advance potential treatments like DEX-M74 to human clinical trials," said John McKew, Ph.D., chief of the NCATS Therapeutic Development Branch and director of TRND. "The results of this project demonstrate what a translational program like TRND can accomplish through collaborations that bring experts together from basic research, pre-clinical drug development, and clinical medicine." The HIBM Phase I clinical trial will test a single dose of DEX-M74 in a small group of patients with a focus on drug safety and how well patients tolerate the drug. Nuria Carrillo, M.D., TRND staff physician and principal investigator of the trial, plans to follow up the initial study with a Phase I/II trial in which patients will receive multiple doses of DEX-M74. Researchers will monitor patients for drug tolerance and indications of drug effectiveness. If DEX-M74 is safe in the Phase I/II trial, researchers will plan a Phase II study to determine the clinical effectiveness of the drug in HIBM patients. "The NIH has achieved a significant milestone in the development of a potential treatment for HIBM, and we are excited about this research reaching the clinical trial stage," said NZP Chief Executive Officer Andy Lewis. "The pre-clinical data are very strong, and we are keen to see DEX-M74 progress through the clinical phases. Once we have proven human efficacy we plan to offer DEX-M74 to patients." The HIBM clinical trial is the third TRND project to advance to human clinical trials. The two other clinical trials are evaluating treatments for sickle cell disease and chronic lymphocytic leukemia. Dr. Carrillo also is overseeing a natural history study of HIBM to collect health information from patients to understand how the disease develops. TRND has developed a portfolio of 14 projects, including HIBM, which focus on rare and neglected tropical diseases. For more information about the HIBM Phase I clinical trial, please visit http://clinicaltrials.gov/ct2/show/NCT01634750?term=HIBM&rank=1. Information about the HIBM natural history study is available at http://www.clinicaltrials.gov/ct2/show/NCT01417533?term=TRND&rank=3. To learn more about TRND clinical trials, please go to http://www.ncats.nih.gov/research/rare-diseases/trnd/trnd-crs.html The National Center for Advancing Translational Sciences (NCATS) aims to catalyze the generation of innovative methods and technologies that will enhance the development, testing and implementation of diagnostics and therapeutics across a wide range of human diseases and conditions. For more information about NCATS, visit http://www.ncats.nih.gov. http://www.nih.gov/news/health/sep2012/ncats-24.htm

A Small Car Specially Designed for Someone in a Wheel Chair

This adds another aspect for independence for people in wheelchairs. I drive a car that has hand control mechanisms and would love to drive this car. Please refer to the link at the bottom of the page for the photos and complete article.

This Awesome Tiny Car Has A Secret: Its Driver Is In A Wheelchai
Retrofitting existing cars for handicapped drivers and to store wheelchairs is a huge expense. The Kenguru lets people in a wheelchair roll themselves right into the driver’s seat.

All Stacy Zoern wanted was a car she could safely drive on her own. Born with a genetic condition called spinal muscular atrophy, the intellectual property lawyer uses a wheelchair to get around her downtown Austin neighborhood and calls friends when she needs a ride. So when Zoern, 32, read an article in the spring of 2010 about a tiny electric car designed from the ground up to be wheelchair accessible, she called the Hungarian company that made it and tried to buy one. But the company had halted production right after it completed the prototype. “Their bank loan had fallen through,” says Zoern.

A year later Zoern had raised $2.5 million, mostly from private investors, and bought the company so she could bring the snappy one-seater to market. To get inside the Kenguru (pronounced kangaroo), the driver presses a remote control, and the back hatch pops up. A short ramp descends, and the wheelchair user can roll right into the driver’s area. Drivers accelerate and turn using motorcycle-style handlebars. The 1,200-pound vehicle, which looks similar to a SmartCar, travels at a maximum speed of 25 mph and has about a 50-mile range before its lead-acid batteries need recharging. Because it’s registered as a neighborhood electric vehicle, owners don’t need a driver’s license, but can travel in regular car lanes where the speed limit is 45mph or less. Zoern just began production on the $25,000 Kenguru, which is currently sold only through dealers in Europe. She says she expects the cars to be available in the U.S. within the next year.

http://www.fastcoexist.com/1680559/this-awesome-tiny-car-has-a-secret-its-driver-is-in-a-wheelchair#1

The National Institutes of Health is Recruiting for Clinical Trial Phase 1 with ManNac

The National Institutes of Health (NIH) are now recruiting for phase 1 the clinical trial using a substrate called ManNac for HIBM. This would be a good trial for those of us not particicipating in the Sialic Acid trial to consider participating in. I have participated in the NIH - Natural History study for HIBM, this study is still ongoing. I would absolutely recommend the NIH team working with HIBM patients. They are the best in the field for our disorder. I copied the important parts of the study and have also attached the link for those who would like to participate.
Hope continues to strive.
Tara


A Phase 1 Study to Evaluate the Safety and Tolerability of ManNAc in Subjects With Hereditary Inclusion Body Myopathy (HIBM)
This study is not yet open for participant recruitment.
Verified June 2012 by National Institutes of Health Clinical Center (CC)
First Received on July 3, 2012. Last Updated on September 12, 2012 History of Changes
Experimental: ManNAc
Drug: ManNAc
Single dose
Placebo Comparator: Placebo
Drug: ManNAc
Single dose

Detailed Description:

Hereditary inclusion body myopathy (HIBM) is an autosomal recessive, neuromuscular disorder characterized by progressive muscle weakness with onset in early adulthood. The causative gene, GNE, codes for the bifunctional enzyme uridine diphospho (UDP) N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE/MNK), which catalyzes the first 2 steps in the biosynthesis of sialic acid. The subsequent paucity of sialic acid production is presumed to cause decreased sialylation of HIBM muscle glycoproteins, resulting in muscle deterioration. In this Phase 1, randomized, placebo-controlled, double-blind, escalating single-dose study, we propose to provide ManNAc (N-acetyl-D-mannosamine monohydrate) orally as a liquid solution to 3 cohorts of 6 subjects (Cohorts A, B, C) at doses of 3,000 mg, 6,000 mg, and 10,000 mg ManNAc, respectively, or up to the maximum tolerated dose (MTD). The objectives of this study are to evaluate the safety, tolerability, and pharmacokinetics (PK) of a single dose of orally administered ManNAc to HIBM subjects, to identify the MTD of a single dose of orally administered ManNAc to HIBM subjects, and to explore the effect of a single dose of ManNAc on potential pharmacodynamic (PD) markers of HIBM. All subjects will be randomly assigned in a 2:1 ratio to receive ManNAc (n=4) or placebo (n=2) and the decision to dose-escalate will be the responsibility of the Safety Review Committee (SRC). Safety will be assessed by adverse events (AEs), clinical laboratory tests, vital signs, physical examinations, and electrocardiograms (ECGs). PK will be assessed for both ManNAc and sialic acid. PD will be assessed by some of the following exploratory biomarkers: serum transferrin sialylation status; plasma glycan profiles; and plasma, white cell, platelet, and urine sialylation status (free and bound sialic acid [N-acetylneuraminic acid] (Neu5Ac)] and cytidine 5'-monophosphate [CMP]-Neu5Ac).
Contacts Contacts and Locations Please refer to this study by its ClinicalTrials.gov identifier: NCT01634750 Contacts Contact: Lea B. Latham, R.N. (301) 827-9235 llatham@mail.nih.gov Contact: Nuria Carrillo-Carrasco, M.D. (301) 402-2324 carrilln@mail.nih.gov http://clinicaltrials.gov/ct2/show/NCT01634750?term=hibm&rank=2

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