Research


Formed in the year 1999 as the clinical research arm of the Duchenne Muscular Dystrophy Research Center (DMDRC) and the Research Center for Genetic Medicine at the Children's National Medical Center (CNMC), the CINRG Coordinating Center is located in the Children's Research Institute on the 5th floor of CNMC in Washington, DC.

Today, the CINRG program seamlessly integrates basic science projects in gene expression profiling, high throughput drug screening in the mdx mouse and drug efficacy and toxicity studies in Golden Retriever Muscular Dystrophy (GRMD) with an international, multi-center human clinical trial network. We as an association is part of the CINRG programme.





Ongoing Research

Ongoing programmes at CINRG site, India

UD0305: Longitudinal Study of the Relationship between Impairment, Activity Limitation, Participation and Quality of Life in Persons with Confirmed Duchenne Muscular Dystrophy (DMD)

Purpose: The purpose of this study is to establish the largest long-term assessment of people with Duchenne Muscular Dystrophy. IN this study, the investigators associated with the Co-operative International Neuromuscular Research Group (CINRG) will take a detailed look over a five-year period at people's physical abilities across all ages, the medical problems they experience, and how they use healthcare services.

They will also look at how families of people with DMD interact with their communities and at their quality of life.

For the family part of our study, they will ask parents questions about their quality of life, and about their attitudes towards different aspects of their children's diagnosis, medical care and other support. One of the first uses o0f this study will be to see how long-term steroid therapy affects these aspects of lives of study volunteers who use the drug.

Status: Enrollment started

Forthcoming project at CINRG site, India

Award under SP Grant and Establishment of Molecular Diagnostic Facility

The basic Wet Lab with facilities for DNA extraction, PCR and Gel Documentation is set under the first phase We are working to establish the MLPA (Multiplex Ligation dependent Probe Amplification) methodology to study all the 79 exons in the dystrophin gene





Completed Research

Ongoing programmes at CINRG site, India

CNMC0601: A randomized study of daily vs. high dose weekly Prednisone therapy in Duchenne muscular dystrophy

Purpose: This study helps to determine whether a high-dose weekly course of prednisone therapy is safer than and at least as effective as daily dose therapy for people with Duchenne Muscular Dystrophy (DMD). Boys who are enrolled in this study should not have taken carnitine, other amino acids, creatine, glutamine, Coenzyme Q10 or any herbal medicines within the last three months. In this study, participants are randomized into groups after being screened to determine eligibility. Participants are then followed for a 12 month period with follow-up visits at month one, three and then every three months.

Status: Completed

Duration: February 2005 - July 2006

Sample Size: 10 subjects

May 2001

We started a drug trial programme at our hospital(KKCTH), using the drugs - Co-enzyme Q and Prednisone on a double blinded randomized manner. 38 children were included in the study and all of them had detailed assessments and investigations performed. After discussions with Vice President of Fourtts India Company, which manufactures co-enzyme q in India, the drugs have been purchased directly from the company. The patients were being assessed on a monthly basis and the study has been completed.

Oct 2002

Letter on "Duchenne Muscular Dystrophy in a Female Child", by Dr. V. Viswanathan, published in Indian Paediatrics, 2002; 39:980

Jan 2002

Paper on the "Profile of Muscular Dystrophy in a Tertiary Care Hospital" presented at the National Conference of Indian Academy of Paediatrics,
by Dr. V. Viswanathan. Results of studies carried at KKCTH.




Other Research

Duchenne Muscular Dystrophy

Exon skipping will change the fast Duchenne into the much slower Becker dystrophy

An interview with Professor Stephen D. Wilton

Professor Wilton is Head of the Experimental Molecular Medicine Group at the Centre for Neuromuscular and Neurological Disorders of the University of Western Australia in Nedlands near Perth. On 16 July 2006, after the Annual Conference of the American Parent Project Muscular Dystrophy in Cincinnati/Ohio, 13 - 16. July 2006, Professor Wilton answered questions of Guenter Scheuerbrandt, PhD (printed in italics) about exon skipping, the most advanced research approach towards a therapy of Duchenne dystrophy. More...

Gene Delivery: Mouse study shows new therapy may reverse muscular dystrophy

Carrie Lock

Courtesy: Science News, Vol. 166, No. 6, Aug. 7, 2004, p. 84.

For people with the most common type of muscular dystrophy, one faulty gene wreaks evastating consequences. Researchers have now found a way to deliver a working copy of the gene to the entire muscular system in mice that suffer from the muscle-wasting ailment. With one injection into the bloodstream, the animals' conditions improved markedly. More...

New gene-therapy techniques show potential

Nathan Seppa

Courtesy: Science News Vol. 157, No. 20, May 13, 2000, p. 309

The promise of gene therapy-the replacement of dysfunctional genes with useful ones- has gone largely unfulfilled because the microbial delivery agents used to insert the desirable genes into needy cells haven't been up to the job. More...

Santhera develops drugs for the treatment of Duchenne muscular dystrophy

An interview with Thomas Meier, PhD,

Chief Scientific Officer at Santhera Pharmaceuticals Ltd.

in Liestal near Basel, Switzerland.

Dr. G√ľnter Scheuerbrandt spoke on 11 January 2006 with Dr. Thomas Meier about the scientific developments at Santhera Pharmaceuticals which could lead to a pharmacological treatment of Duchenne muscular dystrophy (DMD) in the near future. The following text is a shortened version of the recorded interview. It was authorized by Dr. Meier for the information of the affected families and their doctors. More...

PRENATAL DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY

Dr.Balraj Mittal, PhD, Professor, Dept of Medical Genetics, SGPGIMS, Lucknow

Dr Niikhill Moorchung, MD, DNB, MNAMS, Dept of Medical Genetics, SGPGIMS, Lucknow

INTRODUCTION

Muscular Dystrophies(MD) are a group of hetrogenous inherited disorders charactraized by progressive muscle wasting, weakness and degenaration, frequently accompained by cardiomyopathy or mental retardation (1).Clinical course of the disease is highly varaible, ranging from severe congenital forms with rapid progression to milder forms with a later onset and a slower course. At least 30 different forms of muscular dystrophies have been identified to date. The most common muscualr disorder, Duchenne Muscular Dystrophy (DMD) is estimated to affect 1 in 3500 newborn males worldwide. More...